Simon Gray Gregory

Journal Article Cancer Res Commun · June 1, 2026 UNLABELLED: Brain metastases occur in up to 40% of patients with stage IV breast cancer, and the cerebellum is a common site for metastases in HER2-positive breast cancer. We developed a syngeneic, immunocompetent mouse model of breast cancer brain metasta ... Full text Link to item Cite

EBNA2-Dependent T-bet Induction by Epstein-Barr Virus Reveals Mechanistic Insight into MS B Cell Dysregulation

Conference MULTIPLE SCLEROSIS JOURNAL · May 2026 Link to item Cite

Abstract 1997: Integrative single-nuclei spatial transcriptomic profiling of primary and recurrent human glioblastoma reveals cell-specific EGFRvIII expression and ANXA1 signaling axis.

Conference Cancer Research · April 3, 2026 AbstractThe World Health Organization provides clear criteria for diagnosing IDH1-wildtype glioblastoma (GBM), relying on traditional approaches to define pathoetiological features, genomic mutations, cop ... Full text Cite

Serum metabolomic signatures of relapse recovery in early multiple sclerosis.

Journal Article Mult Scler Relat Disord · April 2026 BACKGROUND: Relapses in relapsing-remitting multiple sclerosis (RRMS) are acute neuroinflammatory events that shape long-term disease trajectory. Yet, the molecular events during the early recovery period remain poorly characterized, particularly in early, ... Full text Link to item Cite

Lymphotropic Virotherapy Induces DC and High Endothelial Venule Inflammation, Promoting the Antitumor Efficacy of Intratumor Virus Administration.

Journal Article Cancer Immunol Res · February 3, 2026 Tumor-draining lymph nodes are a pivotal site for antitumor T-cell priming. However, their mechanistic roles in cancer immune surveillance and immunotherapy response remain poorly defined. Intratumor (IT) virotherapy generates antitumor T-cell immunity thr ... Full text Link to item Cite

Supplementary Figure S5 from Lymphotropic Virotherapy Induces DC and High Endothelial Venule Inflammation, Promoting the Antitumor Efficacy of Intratumor Virus Administration

Other · February 3, 2026 Supplementary Figure S5. PVSRIPO is shed in phosphatidyl-serine enriched vesicles from A375 melanoma cells (extended data relating to Figure 4G). ... Full text Cite

Supplementary Table S2 from Lymphotropic Virotherapy Induces DC and High Endothelial Venule Inflammation, Promoting the Antitumor Efficacy of Intratumor Virus Administration

Other · February 3, 2026 Supplementary Table S2. FISH probe sets (extended data relating to Figures 2C, 4). ... Full text Cite

Supplementary Figure S4 from Lymphotropic Virotherapy Induces DC and High Endothelial Venule Inflammation, Promoting the Antitumor Efficacy of Intratumor Virus Administration

Other · February 3, 2026 Supplementary Figure S4. a,b, Extended data relating to Figure 4C-G. MECA-79+ HEV, which harbor (-)strand vRNA in CT2A glioma-bearing mice after dual site (IT+CPLI) PVSRIPO, stain positive for the poliovirus receptor CD155. Full text Cite

Supplementary Figure S2 from Lymphotropic Virotherapy Induces DC and High Endothelial Venule Inflammation, Promoting the Antitumor Efficacy of Intratumor Virus Administration

Other · February 3, 2026 Supplementary Figure S2. Differences in gene expression and hallmark pathways between single-site (IT or CPLI) and dual-site (IT plus CPLI) treatment cohorts compared to mock treatment as shown. ... Full text Cite

Supplementary Figure S3 from Lymphotropic Virotherapy Induces DC and High Endothelial Venule Inflammation, Promoting the Antitumor Efficacy of Intratumor Virus Administration

Other · February 3, 2026 Supplementary Figure S3. Dual-site (IT+CPLI) PVSRIPO in CT2A-bearing mice changes immune cell composition in cLN (extended data relating to Figure 3). ... Full text Cite

Supplementary Table S3 from Lymphotropic Virotherapy Induces DC and High Endothelial Venule Inflammation, Promoting the Antitumor Efficacy of Intratumor Virus Administration

Other · February 3, 2026 Supplementary Table S3. Top-20 differentially expressed genes in tumor-infiltrating T cell subsets (extended data relating to Figure 5D). ... Full text Cite

Supplementary Figure S6 from Lymphotropic Virotherapy Induces DC and High Endothelial Venule Inflammation, Promoting the Antitumor Efficacy of Intratumor Virus Administration

Other · February 3, 2026 Supplementary Figure S6. a-c, Extended data relating to Figure 5. Umap of snRNAseq of combined samples from three intervals (see Figure 5D); individual cell types are labeled (a). Umap of cells identified as T cells in a; individual subset ... Full text Cite

Data from Lymphotropic Virotherapy Induces DC and High Endothelial Venule Inflammation, Promoting the Antitumor Efficacy of Intratumor Virus Administration

Other · February 3, 2026 <div>AbstractTumor-draining lymph nodes are a pivotal site for antitumor T-cell priming. However, their mechanistic roles in cancer immune surveillance and immunotherapy response remain poorly defined. Intratumor (IT) virotherapy gen ... Full text Cite

Supplementary Table 1 from Lymphotropic Virotherapy Induces DC and High Endothelial Venule Inflammation, Promoting the Antitumor Efficacy of Intratumor Virus Administration

Other · February 3, 2026 Antibodies used in flow-cytometry analyses ... Full text Cite

Supplementary Figure S1 from Lymphotropic Virotherapy Induces DC and High Endothelial Venule Inflammation, Promoting the Antitumor Efficacy of Intratumor Virus Administration

Other · February 3, 2026 Supplementary Figure S1. Extended data on cLN phenotypes after IT PVSRIPO infusion in CT2A mouse glioma. ... Full text Cite

VSIG10L is a major determinant of esophageal homeostasis and inherited predisposition to Barrett's esophagus.

Journal Article Nat Commun · January 29, 2026 The molecular underpinnings contributing to the onset of Barrett's esophagus (BE) remain elusive. By studying familial clusters of the disease, here we identify a significant association between genetic variants in the V-set and Immunoglobulin Domain Conta ... Full text Link to item Cite

A platform-agnostic evaluation of non-formalin fixed single cell RNA technologies

Preprint · January 28, 2026 Full text Cite

Evaluating placebo responses to intranasal oxytocin in autism: findings from the placebo lead-in phase of a randomised controlled trial.

Journal Article J Child Psychol Psychiatry · January 19, 2026 BACKGROUND: The placebo effect is established in clinical trials, but for paediatric research, questions remain about how to best manage its influence. Within the autism field, data on these issues is sparse. This is particularly important in the oxytocin ... Full text Link to item Cite

Temporal transcriptomic profiling reveals distinct age-associated gene expression signatures in gonads under reduced insulin/IGF-1 signaling in Caenorhabditis elegans.

Journal Article Cell Commun Signal · December 15, 2025 BACKGROUND: Age-related decline in reproductive function is a hallmark of organismal aging, yet the molecular mechanisms driving this process remain incompletely understood. The insulin/IGF-1 signaling (IIS) pathway is highly conserved and influences both ... Full text Link to item Cite

Multi-region spatial transcriptomics reveals region specific differences in response to amyloid beta (Aβ) plaque induced changes in Alzheimer's disease (AD).

Journal Article Hum Genomics · November 29, 2025 BACKGROUND: Alzheimer's disease (AD) is the leading cause of dementia affecting 55 million people worldwide. The pathological hallmarks of AD, beta-amyloid (Aβ) plaques and neurofibrillary tangles (NFT), follow distinct stereotypical patterns of progressio ... Full text Link to item Cite

BIOM-72. INTEGRATIVE SINGLE-NUCLEI SPATIAL TRANSCRIPTOMIC PROFILING OF PRIMARY AND RECURRENT HUMAN IDH-WILDTYPE GLIOBLASTOMA REVEALS CELL-SPECIFIC EGFRVIII EXPRESSION AND ANXA1 SIGNALING AXIS

Conference Neuro-Oncology · November 11, 2025 AbstractThe World Health Organization provides clear criteria for diagnosing IDH1-wildtype glioblastoma (GBM), relying on traditional approaches to define pathoetiological features, genomic mutations, cop ... Full text Cite

BIOM-89. PI3K PATHWAY ALTERATIONS ARE DRIVERS OF PROGRESSION AND PREDICT WORSE OVERALL SURVIVAL IN NEWLY DIAGNOSED MOLECULARLY-DEFINED OLIGODENDROGLIOMA

Conference Neuro-Oncology · November 11, 2025 AbstractBACKGROUNDIdentification of biomarkers for overall survival (OS) in oligodendroglioma has proven challenging due to 1) ... Full text Cite

A surgical window of opportunity trial evaluating the effect of the PCSK9 inhibitor evolocumab on tumoral MHC-I expression and CD8+ infiltration in glioma.

Journal Article Sci Rep · October 23, 2025 Many cancers evade immunosurveillance by downregulating surface major histocompatibility class (MHC)-I. Proprotein convertase subtilisin/kexin type 9 (PCSK9) promotes MHC-I degradation and is elevated in glioma. Evolocumab is a clinically approved PCSK9 in ... Full text Open Access Link to item Cite

Paired single-cell and spatial transcriptional profiling reveals a central osteopontin macrophage response mediating tuberculous granuloma formation.

Journal Article mBio · September 10, 2025 Granulomas are classic manifestations of tuberculosis pathogenesis. They result from an ensemble of immune responses to Mycobacterium tuberculosis infection, but the identities, arrangement, cellular interactions, and regulation of the cells that comprise ... Full text Link to item Cite

Epstein-Barr Virus Directly Induces Atypical B Cell Formation Through EBNA2-Mediated T-bet Regulation in Multiple Sclerosis

Conference MULTIPLE SCLEROSIS JOURNAL · September 2025 Link to item Cite

Insights into Keratinocyte and Immunologic Landscape in Cutaneous Graft-Versus-Host Disease through Single-Cell Transcriptomics.

Journal Article JID Innov · July 2025 Cutaneous manifestations are the most common presenting sign of chronic graft-versus-host disease (GVHD), and the extent of cutaneous involvement is also highly correlated with prognosis. Very little is understood about the underlying pathogenesis underpin ... Full text Link to item Cite

Early multiple sclerosis activity associated with TBX21+CD21loCXCR3+ B cell expansion resembling EBV-induced phenotypes.

Journal Article JCI Insight · June 23, 2025 Epstein-Barr virus (EBV) infection precedes multiple sclerosis (MS) onset and plays a poorly understood etiologic role. To investigate possible viral pathogenesis, we analyzed single-cell expression in peripheral B cells from people with early MS collected ... Full text Link to item Cite

Disruption of ataxia telangiectasia-mutated kinase enhances radiation therapy efficacy in spatially directed diffuse midline glioma models.

Journal Article J Clin Invest · June 16, 2025 Diffuse midline gliomas (DMGs) are lethal brain tumors characterized by p53-inactivating mutations and oncohistone H3.3K27M mutations that rewire the cellular response to genotoxic stress. We used RCAS/tv-a retroviruses and Cre recombinase to inactivate p5 ... Full text Link to item Cite

Cutaneous dysbiosis characterizes the post-allogeneic hematopoietic stem cell transplantation period.

Journal Article Blood Adv · May 13, 2025 Gut dysbiosis is linked to mortality and the development of graft-versus-host disease after hematopoietic stem cell transplantation (HSCT), but the impact of cutaneous dysbiosis remains unexplored. We performed a pilot observational study, obtained retroau ... Full text Link to item Cite

Author Correction: Targeting senescent hepatocytes for treatment of metabolic dysfunction-associated steatotic liver disease and multi-organ dysfunction.

Journal Article Nat Commun · May 6, 2025 Full text Link to item Cite

Predictors of Placebo Response in the Study of Oxytocin in Autism to Improve Reciprocal Social Behaviors.

Journal Article J Child Adolesc Psychopharmacol · May 2025 Background: Although randomized clinical trials (RCTs) have investigated several treatments for social communication difficulties and repetitive behavior in autism, none has yet shown consistent superiority over placebo. Placebo response in autism RCTs may ... Full text Link to item Cite

Lymphotropic Virotherapy Engages DC and High Endothelial Venule Inflammation to Mediate Cancer In Situ Vaccination.

Journal Article medRxiv · April 25, 2025 Intratumor (IT) inoculation of the rhino:poliovirus chimera, PVSRIPO, yielded objective radiographic responses with long-term survival in 20% of patients with recurrent glioblastoma (rGBM). PVSRIPO infects dendritic cells (DCs) and sets up non-cytopathogen ... Full text Link to item Cite

Epigenetic age acceleration predicts subject-specific white matter degeneration in the human brain.

Journal Article Aging Cell · April 2025 Epigenetic clocks provide powerful tools for estimating health and lifespan but their ability to predict brain degeneration and neuronal damage during the aging process is unknown. In this study, we use GrimAge, an epigenetic clock correlated to several bl ... Full text Link to item Cite

Language of primary medical qualification and differential MRCGP exam attainment: an observational study.

Journal Article Br J Gen Pract · April 2025 BACKGROUND: International medical graduates (IMGs) comprise more than half of GP registrars but are more likely to fail postgraduate assessments than UK graduates. AIM: To assess whether there is an association between the language of the primary medical q ... Full text Link to item Cite

Targeting senescent hepatocytes for treatment of metabolic dysfunction-associated steatotic liver disease and multi-organ dysfunction.

Journal Article Nat Commun · March 28, 2025 Senescent hepatocytes accumulate in metabolic dysfunction-associated steatotic liver disease (MASLD) and are linked to worse clinical outcomes. However, their heterogeneity and lack of specific markers have made them difficult to target therapeutically. He ... Full text Link to item Cite

A surgical window of opportunity trial evaluating the effect of the PCSK9 inhibitor evolocumab on tumoral MHC-I expression and CD8+ infiltration in glioma

Journal Article Research Square · January 22, 2025 Full text Open Access Link to item Cite

A surgical window of opportunity trial evaluating the effect of the PCSK9 inhibitor evolocumab on tumoral MHC-I expression and CD8+ infiltration in glioma

Preprint · 2025 Full text Cite

UBE2N Is Essential for Maintenance of Skin Homeostasis and Suppression of Inflammation.

Journal Article J Invest Dermatol · December 2024 UBE2N, a Lys63 ubiquitin-conjugating enzyme, plays critical roles in embryogenesis and immune system development and function. However, its roles in adult epithelial tissue homeostasis and pathogenesis are unclear. We generated conditional mouse models tha ... Full text Link to item Cite

EPCO-42. SINGLE-CELL MULTIOMIC ANALYSIS OF BRAIN METASTASES ACROSS MULTIPLE PRIMARY TUMOR TYPES

Conference Neuro-Oncology · November 11, 2024 AbstractBrain metastases are the most common form of intracranial tumor in adults, however the prognosis remains dismal due to lack of effective treatments and limited understanding of the underlying physiol ... Full text Cite

BIOM-30. NOVEL HISTOLOGIC AND MOLECULAR BIOMARKERS FOR OLIGODENDROGLIOMA

Conference Neuro-Oncology · November 11, 2024 AbstractOligodendrogliomas are progressive, infiltrative gliomas. While new molecular criteria were introduced in 2016 for diagnosing oligodendroglioma, the grading criteria remains largely unchanged. We eva ... Full text Cite

Recruitment of CXCR4+ type 1 innate lymphoid cells distinguishes sarcoidosis from other skin granulomatous diseases.

Journal Article J Clin Invest · September 3, 2024 Sarcoidosis is a multiorgan granulomatous disease that lacks diagnostic biomarkers and targeted treatments. Using blood and skin from patients with sarcoid and non-sarcoid skin granulomas, we discovered that skin granulomas from different diseases exhibit ... Full text Link to item Cite

IMBALANCED PRO-INFLAMMATORY IMMUNE RESPONSES IN SEROPOSITIVE AND SERONEGATIVE MG

Conference MUSCLE & NERVE · September 2024 Link to item Cite

Specific recruitment of type 1 innate lymphoid cells to mature tertiary lymphoid structures in human sarcoidosis

Conference JOURNAL OF INVESTIGATIVE DERMATOLOGY · August 2024 Link to item Cite

Publisher Correction: Ganglioglioma deep transcriptomics reveals primitive neuroectoderm neural precursor‑like population.

Journal Article Acta Neuropathol Commun · June 27, 2024 Full text Link to item Cite

Transcriptome analysis identifies an ASD-Like phenotype in oligodendrocytes and microglia from C58/J amygdala that is dependent on sex and sociability.

Journal Article Behav Brain Funct · June 19, 2024 BACKGROUND: Autism Spectrum Disorder (ASD) is a group of neurodevelopmental disorders with higher incidence in males and is characterized by atypical verbal/nonverbal communication, restricted interests that can be accompanied by repetitive behavior, and d ... Full text Link to item Cite

Prognostic impact of CDKN2A deletion in oligodendroglioma

Conference JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY · May 10, 2024 Link to item Cite

Accelerated epigenetic age is associated with whole-brain functional connectivity and impaired cognitive performance in older adults.

Journal Article Sci Rep · April 26, 2024 While chronological age is a strong predictor for health-related risk factors, it is an incomplete metric that fails to fully characterize the unique aging process of individuals with different genetic makeup, neurodevelopment, and environmental experience ... Full text Link to item Cite

Spatial transcriptomics reveals segregation of tumor cell states in glioblastoma and marked immunosuppression within the perinecrotic niche.

Journal Article Acta Neuropathol Commun · April 22, 2024 Glioblastoma (GBM) remains an untreatable malignant tumor with poor patient outcomes, characterized by palisading necrosis and microvascular proliferation. While single-cell technology made it possible to characterize different lineage of glioma cells into ... Full text Open Access Link to item Cite

Subventricular zone stem cell niche injury is associated with intestinal perforation in preterm infants and predicts future motor impairment.

Journal Article Cell Stem Cell · April 4, 2024 Brain injury is highly associated with preterm birth. Complications of prematurity, including spontaneous or necrotizing enterocolitis (NEC)-associated intestinal perforations, are linked to lifelong neurologic impairment, yet the mechanisms are poorly und ... Full text Link to item Cite

Abstract 5496: Multi-omic spatial analysis of the tumor microenvironment in gliomas

Conference Cancer Research · March 22, 2024 AbstractIntroduction: The diverse tumor environment of high-grade glioma, which remains refractory to treatment, demands new innovative, multi-omic approaches to characterize tumor heterogeneity and expressi ... Full text Cite

PI3K/mTOR is a therapeutically targetable genetic dependency in diffuse intrinsic pontine glioma.

Journal Article J Clin Invest · February 6, 2024 Diffuse midline glioma (DMG), including tumors diagnosed in the brainstem (diffuse intrinsic pontine glioma; DIPG), are uniformly fatal brain tumors that lack effective treatment. Analysis of CRISPR/Cas9 loss-of-function gene deletion screens identified PI ... Full text Link to item Cite

A neural tract-inspired conduit for facile, on-demand biopsy of glioblastoma.

Journal Article Neurooncol Adv · 2024 BACKGROUND: A major hurdle to effectively treating glioblastoma (GBM) patients is the lack of longitudinal information about tumor progression, evolution, and treatment response. METHODS: In this study, we report the use of a neural tract-inspired conduit ... Full text Link to item Cite

UBE2N is essential for maintenance of skin homeostasis and suppression of inflammation.

Preprint · December 4, 2023 Full text Link to item Cite

NLRP3+TUMOR-ASSOCIATED MYELOID CELLS ARE ENRICHED IN ASTROCYTIC GLIOMAS AND REPRESENT A THERAPEUTIC VULNERABILITY

Conference NEURO-ONCOLOGY · November 2023 Link to item Cite

HYPERCELLULAR NODULES IN OLIGODENDROGLIOMA REPRESENT POCKETS OF PROLIFERATIVE STEM-LIKE TUMOR CELLS

Conference NEURO-ONCOLOGY · November 2023 Link to item Cite

DECIPHERING THE INTRICATE GLIOBLASTOMA TUMOR MICROENVIRONMENT AND EGFRVIII TRANSCRIPT DISTRIBUTION THROUGH SINGLE-CELL SPATIAL PROFILING

Conference NEURO-ONCOLOGY · November 2023 Link to item Cite

Ataxia-telangiectasia mutated ( Atm ) disruption sensitizes spatially-directed H3.3K27M/TP53 diffuse midline gliomas to radiation therapy.

Journal Article bioRxiv · October 20, 2023 Diffuse midline gliomas (DMGs) are lethal brain tumors characterized by p53-inactivating mutations and oncohistone H3.3K27M mutations that rewire the cellular response to genotoxic stress, which presents therapeutic opportunities. We used RCAS/tv-a retrovi ... Full text Link to item Cite

A simple method for testing and controlling inhibition in soil and sediment samples for qPCR.

Journal Article J Microbiol Methods · September 2023 The presence of polymerase-chain-reaction (PCR) inhibitors in many environmental samples can make reliable and repeatable quantitative-polymerase-chain-reaction (qPCR) analysis difficult without sample dilution. To estimate an optimal sample dilution for q ... Full text Link to item Cite

20-αHydroxycholesterol, an oxysterol in human breast milk, reverses mouse neonatal white matter injury through Gli-dependent oligodendrogenesis.

Journal Article Cell Stem Cell · August 3, 2023 White matter injuries (WMIs) are the leading cause of neurologic impairment in infants born premature. There are no treatment options available. The most common forms of WMIs in infants occur prior to the onset of normal myelination, making its pathophysio ... Full text Open Access Link to item Cite

Tackling differential attainment in specialist GP training in England and Scotland.

Journal Article Educ Prim Care · July 2023 In this article NHS England and NHS Education for Scotland describe practical ways we are tackling differences in the attainment of people training as general practitioners (GPs).Trainees from minority ethnic groups and international medical graduates are ... Full text Link to item Cite

LGG-13. GANGLIOGLIOMA DEEP TRANSCRIPTOMICS REVEALS A CD34+ PRIMITIVE NEUROECTODERM NEURAL PRECURSOR-LIKE POPULATION

Conference Neuro-Oncology · June 12, 2023 AbstractGangliogliomas are glioneuronal brain tumors that typically present in childhood or early adulthood. Though most often low-grade, new insights are needed to refine glioneuronal tumor classification a ... Full text Cite

The RNA helicase DDX39B activates FOXP3 RNA splicing to control T regulatory cell fate.

Journal Article Elife · June 1, 2023 Genes associated with increased susceptibility to multiple sclerosis (MS) have been identified, but their functions are incompletely understood. One of these genes codes for the RNA helicase DExD/H-Box Polypeptide 39B (DDX39B), which shows genetic and func ... Full text Link to item Cite

Spatial Transcriptomic Profiling of Hypercellular Nodules Reveals Activation of Cholesterol Biosynthesis and Synaptogenesis Pathways

Conference JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY · May 25, 2023 Link to item Cite

Adolescent peer struggles predict accelerated epigenetic aging in midlife.

Journal Article Dev Psychopathol · May 2023 This study examined struggles to establish autonomy and relatedness with peers in adolescence and early adulthood as predictors of advanced epigenetic aging assessed at age 30. Participants (N = 154; 67 male and 87 female) were observed repeatedly, along w ... Full text Link to item Cite

540. A Precision Medicine Approach to Oxytocin Nasal Spray in Autism: A Randomized Controlled Trial

Conference Biological Psychiatry · May 2023 Full text Cite

An EBV-Associated Atypical B Cell Signature in Clinically Isolated Syndrome is Distinct Among Autoimmune and Chronic Infectious Diseases

Conference MULTIPLE SCLEROSIS JOURNAL · May 2023 Link to item Cite

Single cell transcriptome reveals complex keratinocyte and immune responses in cutaneous chronic graft-versus-host disease

Conference JOURNAL OF INVESTIGATIVE DERMATOLOGY · May 2023 Link to item Cite

CD8 T Cell Immune Signatures in Autoimmune Myasthenia Gravis (N6.001)

Conference Neurology · April 25, 2023 Full text Cite

Ganglioglioma deep transcriptomics reveals primitive neuroectoderm neural precursor-like population.

Journal Article Acta Neuropathol Commun · March 25, 2023 Gangliogliomas are brain tumors composed of neuron-like and macroglia-like components that occur in children and young adults. Gangliogliomas are often characterized by a rare population of immature astrocyte-appearing cells expressing CD34, a marker expre ... Full text Link to item Cite

JAK-STAT activation contributes to cytotoxic T cell-mediated basal cell death in human chronic lung allograft dysfunction.

Journal Article JCI Insight · March 22, 2023 Chronic lung allograft dysfunction (CLAD) is the leading cause of death in lung transplant recipients. CLAD is characterized clinically by a persistent decline in pulmonary function and histologically by the development of airway-centered fibrosis known as ... Full text Link to item Cite

Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder.

Journal Article Autism Res · March 2023 Oxytocin (OT), the brain's most abundant neuropeptide, plays an important role in social salience and motivation. Clinical trials of the efficacy of OT in autism spectrum disorder (ASD) have reported mixed results due in part to ASD's complex etiology. We ... Full text Open Access Link to item Cite

Aging and obesity prime the methylome and transcriptome of adipose stem cells for disease and dysfunction.

Journal Article FASEB J · March 2023 The epigenome of stem cells occupies a critical interface between genes and environment, serving to regulate expression through modification by intrinsic and extrinsic factors. We hypothesized that aging and obesity, which represent major risk factors for ... Full text Link to item Cite

The effect of oxytocin nasal spray on social interaction in young children with autism: a randomized clinical trial.

Journal Article Mol Psychiatry · February 2023 Early supports to enhance social development in children with autism are widely promoted. While oxytocin has a crucial role in mammalian social development, its potential role as a medication to enhance social development in humans remains unclear. We inve ... Full text Link to item Cite

Hepatocyte Smoothened Activity Controls Susceptibility to Insulin Resistance and Nonalcoholic Fatty Liver Disease.

Conference Cell Mol Gastroenterol Hepatol · 2023 BACKGROUND & AIMS: Nonalcoholic steatohepatitis (NASH), a leading cause of cirrhosis, strongly associates with the metabolic syndrome, an insulin-resistant proinflammatory state that disrupts energy balance and promotes progressive liver degeneration. We a ... Full text Link to item Cite

Gene-nutrient interactions that impact magnesium homeostasis increase risk for neural tube defects in mice exposed to dolutegravir.

Journal Article Front Cell Dev Biol · 2023 In 2018, data from a surveillance study in Botswana evaluating adverse birth outcomes raised concerns that women on antiretroviral therapy (ART) containing dolutegravir (DTG) may be at increased risk for neural tube defects (NTDs). The mechanism of action ... Full text Open Access Link to item Cite

Single-cell genome-wide association reveals that a nonsynonymous variant in ERAP1 confers increased susceptibility to influenza virus.

Journal Article Cell Genom · November 9, 2022 During pandemics, individuals exhibit differences in risk and clinical outcomes. Here, we developed single-cell high-throughput human in vitro susceptibility testing (scHi-HOST), a method for rapidly identifying genetic variants that confer resistance and ... Full text Link to item Cite

Characterizing the immunomodulation and remyelination efficacy of 20-aHydroxycholesterol in pre-clinical models of multiple sclerosis

Conference MULTIPLE SCLEROSIS JOURNAL · October 2022 Link to item Cite

Characterization of a castrate-resistant prostate cancer xenograft derived from a patient of West African ancestry.

Conference Prostate Cancer Prostatic Dis · September 2022 BACKGROUND: Prostate cancer is a clinically and molecularly heterogeneous disease, with highest incidence and mortality among men of African ancestry. To date, prostate cancer patient-derived xenograft (PCPDX) models to study this disease have been difficu ... Full text Open Access Link to item Cite

Resistance of mitochondrial DNA to cadmium and Aflatoxin B1 damage-induced germline mutation accumulation in C. elegans.

Journal Article Nucleic Acids Res · August 26, 2022 Mitochondrial DNA (mtDNA) is prone to mutation in aging and over evolutionary time, yet the processes that regulate the accumulation of de novo mtDNA mutations and modulate mtDNA heteroplasmy are not fully elucidated. Mitochondria lack certain DNA repair p ... Full text Link to item Cite

Liquid biopsy transcriptomics identify pathways associated with poor outcomes and immune phenotypes in men with mCRPC

Conference CANCER RESEARCH · June 15, 2022 Link to item Cite

Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder

Preprint · May 30, 2022 Full text Cite

Epigenetic STING silencing is developmentally conserved in gliomas and can be rescued by methyltransferase inhibition.

Journal Article Cancer Cell · May 9, 2022 Full text Link to item Cite

Sex-dimorphic gene effects on survival outcomes in people with coronary artery disease.

Journal Article Am Heart J Plus · May 2022 BACKGROUND: Ischemic coronary heart disease (IHD) is the leading cause of death worldwide. Genetic variation is presumed to be a major factor underlying sex differences for IHD events, including mortality. The purpose of this study was to identify sex-spec ... Full text Link to item Cite

Lifetime marijuana use and epigenetic age acceleration: A 17-year prospective examination.

Journal Article Drug Alcohol Depend · April 1, 2022 AIMS: This study was designed to assess links between lifetime levels of marijuana use and accelerated epigenetic aging. DESIGN: Prospective longitudinal study, following participants annually from age 13 to age 30. SETTING AND PARTICIPANTS: A community sa ... Full text Link to item Cite

Human distal lung maps and lineage hierarchies reveal a bipotent progenitor.

Journal Article Nature · April 2022 Mapping the spatial distribution and molecular identity of constituent cells is essential for understanding tissue dynamics in health and disease. We lack a comprehensive map of human distal airways, including the terminal and respiratory bronchioles (TRBs ... Full text Open Access Link to item Cite

Association of circulating tumor cell RB1 loss RNA signature with outcomes and immune phenotypes in men with mCRPC.

Conference Journal of Clinical Oncology · February 20, 2022 139 Background: Androgen receptor signaling inhibitors (ARSi) are a mainstay for patients with metastatic castration-resistant prostate cancer (mCRPC). However, patient response is heterogeneous and the molecular underpinnings of ... Full text Cite

Single Cell RNA-Seq Analysis of Human Red Cells.

Journal Article Front Physiol · 2022 Human red blood cells (RBCs), or erythrocytes, are the most abundant blood cells responsible for gas exchange. RBC diseases affect hundreds of millions of people and impose enormous financial and personal burdens. One well-recognized, but poorly understood ... Full text Link to item Cite

A phase 0/surgical window-of-opportunity study in progress, evaluating evolocumab in patients with high-grade glioma or glioblastoma

Conference JOURNAL OF CLINICAL ONCOLOGY · 2022 Background: High-grade gliomas (HGGs) are immunologically ‘cold’ tumors. This phenomenon is partly due to reduced expression of major histocompatibility class (MHC) I on the surface of tumor cells, which prevents CD8+ cytotoxic T lymphocyte activity (CTLs) ... Full text Link to item Cite

Correction: Single-cell RNA-seq reveals transcriptomic heterogeneity mediated by host-pathogen dynamics in lymphoblastoid cell lines.

Journal Article Elife · November 11, 2021 Full text Link to item Cite

Intranasal Oxytocin in Children and Adolescents with Autism Spectrum Disorder.

Journal Article N Engl J Med · October 14, 2021 BACKGROUND: Experimental studies and small clinical trials have suggested that treatment with intranasal oxytocin may reduce social impairment in persons with autism spectrum disorder. Oxytocin has been administered in clinical practice to many children wi ... Full text Open Access Link to item Cite

SINGLE CELL RNA SEQUENCING DATA FROM MICE IDENTIFIES INHIBITED HEDGEHOG SIGNALING IN HEPATOCYTES AS A CRITICAL EARLY EVENT IN HUMAN NAFLD

Conference HEPATOLOGY · October 2021 Link to item Cite

Circulating Tumor Cell Chromosomal Instability and Neuroendocrine Phenotype by Immunomorphology and Poor Outcomes in Men with mCRPC Treated with Abiraterone or Enzalutamide.

Journal Article Clin Cancer Res · July 15, 2021 PURPOSE: While the detection of AR-V7 in circulating tumor cells (CTC) is associated with resistance to abiraterone or enzalutamide in men with metastatic castration-resistant prostate cancer (mCRPC), it only accounts for a minority of this resistance. Neu ... Full text Link to item Cite

Circulating Tumor Cell Genomic Evolution and Hormone Therapy Outcomes in Men with Metastatic Castration-Resistant Prostate Cancer.

Conference Mol Cancer Res · June 2021 Men with circulating tumor cell (CTC) AR-V7-positive metastatic castration-resistant prostate cancer (mCRPC) have worse outcomes when treated with enzalutamide/abiraterone. However, most men lack CTC AR-V7 detection, and additional predictive biomarkers ar ... Full text Link to item Cite

Profiling serum neurofilament light chain and glial fibrillary acidic protein in primary progressive multiple sclerosis.

Journal Article J Neuroimmunol · May 15, 2021 This study examined the utility of serum neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) as biomarkers in primary progressive multiple sclerosis in context with clinical severity, progression, and treatment. Using a single-mole ... Full text Link to item Cite

U2AF2 binds IL7R exon 6 ectopically and represses its inclusion.

Journal Article RNA · April 16, 2021 Interleukin 7 receptor α-chain is crucial for the development and maintenance of T cells and genetically associated with autoimmune disorders including multiple sclerosis (MS). Exon 6 of IL7R encodes for its transmembrane domain and regulated by alternativ ... Full text Link to item Cite

A non-canonical type 2 immune response coordinates tuberculous granuloma formation and epithelialization.

Journal Article Cell · April 1, 2021 The central pathogen-immune interface in tuberculosis is the granuloma, a complex host immune structure that dictates infection trajectory and physiology. Granuloma macrophages undergo a dramatic transition in which entire epithelial modules are induced an ... Full text Link to item Cite

Genetic, epigenetic, and environmental factors controlling oxytocin receptor gene expression.

Journal Article Clin Epigenetics · January 30, 2021 BACKGROUND: The neuropeptide oxytocin regulates mammalian social behavior. Disruptions in oxytocin signaling are a feature of many psychopathologies. One commonly studied biomarker for oxytocin involvement in psychiatric diseases is DNA methylation at the ... Full text Link to item Cite

Single-cell RNA-seq reveals transcriptomic heterogeneity mediated by host-pathogen dynamics in lymphoblastoid cell lines.

Journal Article Elife · January 27, 2021 Lymphoblastoid cell lines (LCLs) are generated by transforming primary B cells with Epstein-Barr virus (EBV) and are used extensively as model systems in viral oncology, immunology, and human genetics research. In this study, we characterized single-cell t ... Full text Link to item Cite

Single-Cell RNA Sequencing Reveals Cellular and Transcriptional Changes Associated With M1 Macrophage Polarization in Hidradenitis Suppurativa.

Journal Article Front Med (Lausanne) · 2021 Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease characterized by recurrent abscesses, nodules, and sinus tracts in areas of high hair follicle and sweat gland density. These sinus tracts can present with purulent drainage and scar form ... Full text Open Access Link to item Cite

Immune cell profiles associated with cis progression and stability using rna-seq single-cell analysis

Conference MULTIPLE SCLEROSIS JOURNAL · December 2020 Link to item Cite

The power of personal care: the value of the patient-GP consultation.

Journal Article Br J Gen Pract · December 2020 Full text Link to item Cite

Single-cell omics analysis reveals functional diversification of hepatocytes during liver regeneration.

Journal Article JCI Insight · November 19, 2020 Adult liver has enormous regenerative capacity; it can regenerate after losing two-thirds of its mass while sustaining essential metabolic functions. How the liver balances dual demands for increased proliferative activity with maintenance of organ functio ... Full text Link to item Cite

Rationale, design, and methods of the Autism Centers of Excellence (ACE) network Study of Oxytocin in Autism to improve Reciprocal Social Behaviors (SOARS-B).

Journal Article Contemp Clin Trials · November 2020 OBJECTIVE: To describe the rationale, design, and methods of the Autism Centers of Excellence (ACE) network Study of Oxytocin in Autism to improve Reciprocal Social Behaviors (SOARS-B). METHOD: This phase 2 clinical trial was designed to evaluate the use o ... Full text Link to item Cite

DYNAMIC EPIGENETIC REPROGRAMMING ENABLES FUNCTIONAL DIVERSIFICATION OF HEPATOCYTES DURING LIVER REGENERATION

Conference HEPATOLOGY · November 2020 Link to item Cite

Author Correction: Meteorin-like facilitates skeletal muscle repair through a Stat3/IGF-1 mechanism.

Journal Article Nat Metab · August 2020 An amendment to this paper has been published and can be accessed via a link at the top of the paper. ... Full text Link to item Cite

I don't want to be a call centre GP!

Journal Article Br J Gen Pract · August 2020 Full text Link to item Cite

Synovial cell cross-talk with cartilage plays a major role in the pathogenesis of osteoarthritis.

Journal Article Sci Rep · July 2, 2020 We elucidated the molecular cross-talk between cartilage and synovium in osteoarthritis, the most widespread arthritis in the world, using the powerful tool of single-cell RNA-sequencing. Multiple cell types were identified based on profiling of 10,640 syn ... Full text Link to item Cite

251 Skin epidermal keratinocyte differentiation-associated processes regulate homeostatic antiviral protein expression

Conference Journal of Investigative Dermatology · July 2020 Full text Cite

Circulating MicroRNA Profiling in Non-ST Elevated Coronary Artery Syndrome Highlights Genomic Associations with Serial Platelet Reactivity Measurements.

Journal Article Sci Rep · April 10, 2020 Changes in platelet physiology are associated with simultaneous changes in microRNA concentrations, suggesting a role for microRNA in platelet regulation. Here we investigated potential associations between microRNA and platelet reactivity (PR), a marker o ... Full text Open Access Link to item Cite

Discordant and heterogeneous clinically relevant genomic alterations in circulating tumor cells vs plasma DNA from men with metastatic castration resistant prostate cancer.

Journal Article Genes Chromosomes Cancer · April 2020 Circulating tumor cell (CTC) and cell-free (cf) DNA-based genomic alterations are increasingly being used for clinical decision-making in oncology. However, the concordance and discordance between paired CTC and cfDNA genomic profiles remain largely unknow ... Full text Link to item Cite

Meteorin-like facilitates skeletal muscle repair through a Stat3/IGF-1 mechanism.

Journal Article Nat Metab · March 2020 The immune system plays a multifunctional role throughout the regenerative process, regulating both pro-/anti-inflammatory phases and progenitor cell function. In the present study, we identify the myokine/cytokine Meteorin-like (Metrnl) as a critical regu ... Full text Link to item Cite

Single-Cell RNA Sequencing Identifies Yes-Associated Protein 1-Dependent Hepatic Mesothelial Progenitors in Fibrolamellar Carcinoma.

Journal Article Am J Pathol · January 2020 Fibrolamellar carcinoma (FLC) is characterized by in-frame fusion of DnaJ heat shock protein family (Hsp40) member B1 (DNAJB1) with protein kinase cAMP-activated catalytic subunit α (PRKACA) and by dense desmoplasia. Surgery is the only effective treatment ... Full text Link to item Cite

Erythromyeloid progenitors give rise to a population of osteoclasts that contribute to bone homeostasis and repair.

Journal Article Nat Cell Biol · January 2020 Osteoclasts are multinucleated cells of the monocyte/macrophage lineage that degrade bone. Here, we used lineage tracing studies-labelling cells expressing Cx3cr1, Csf1r or Flt3-to identify the precursors of osteoclasts in mice. We identified an erythromye ... Full text Link to item Cite

Genetics of the chiari I and II malformations

Chapter · January 1, 2020 Chiari malformations are considered to have a multifactorial etiology, likely influenced by environmental and genetic factors. This chapter will detail the evidence that supports a genetic contribution to the disorder, including discussions of twin studies ... Full text Cite

Epigenome-Wide Association Study for All-Cause Mortality in a Cardiovascular Cohort Identifies Differential Methylation in Castor Zinc Finger 1 (CASZ1).

Journal Article J Am Heart Assoc · November 5, 2019 Background DNA methylation is implicated in many chronic diseases and may contribute to mortality. Therefore, we conducted an epigenome-wide association study (EWAS) for all-cause mortality with whole-transcriptome data in a cardiovascular cohort (CATHGEN ... Full text Link to item Cite

Associations of osteopontin and NT-proBNP with circulating miRNA levels in acute coronary syndrome.

Journal Article Physiol Genomics · October 1, 2019 The genomic regulatory networks underlying the pathogenesis of non-ST-segment elevation acute coronary syndrome (NSTE-ACS) are incompletely understood. As intermediate traits, protein biomarkers report on underlying disease severity and prognosis in NSTE-A ... Full text Link to item Cite

Yap1 AS A THERAPEUTIC TARGET IN FIBROLAMELLAR CARCINOMA

Conference HEPATOLOGY · October 1, 2019 Link to item Cite

Metabolome-based signature of disease pathology in MS.

Journal Article Mult Scler Relat Disord · June 2019 BACKGROUND: Diagnostic delays are common for multiple sclerosis (MS) since diagnosis typically depends on the presentation of nonspecific clinical symptoms together with radiologically-determined central nervous system (CNS) lesions. It is important to red ... Full text Link to item Cite

The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.

Journal Article Hum Mol Genet · May 15, 2019 Mutations in IRF6, TFAP2A and GRHL3 cause orofacial clefting syndromes in humans. However, Tfap2a and Grhl3 are also required for neurulation in mice. Here, we found that homeostasis of Irf6 is also required for development of the neural tube and associate ... Full text Link to item Cite

Prospective Multicenter Validation of Androgen Receptor Splice Variant 7 and Hormone Therapy Resistance in High-Risk Castration-Resistant Prostate Cancer: The PROPHECY Study.

Journal Article J Clin Oncol · May 1, 2019 PURPOSE: Androgen receptor splice variant 7 (AR-V7) results in a truncated receptor, which leads to ligand-independent constitutive activation that is not inhibited by anti-androgen therapies, including abiraterone or enzalutamide. Given that previous repo ... Full text Link to item Cite

Early nurture epigenetically tunes the oxytocin receptor.

Journal Article Psychoneuroendocrinology · January 2019 Mammalian sociality is regulated in part by the neuropeptide oxytocin. In prairie voles, subtle variation in early life experience changes oxytocin receptor-mediated social behaviors. We report that low levels of early care in voles leads to de novo DNA me ... Full text Link to item Cite

Evaluating DNA methylation age on the Illumina MethylationEPIC Bead Chip.

Journal Article PLoS One · 2019 DNA methylation age (DNAm age) has become a widely utilized epigenetic biomarker for the aging process. The Horvath method for determining DNAm age is perhaps the most widely utilized and validated DNA methylation age assessment measure. Horvath DNAm age i ... Full text Link to item Cite

Whole Exome Sequencing of Cell-Free DNA for Early Lung Cancer: A Pilot Study to Differentiate Benign From Malignant CT-Detected Pulmonary Lesions.

Journal Article Front Oncol · 2019 Introduction: Indeterminate pulmonary lesions (IPL) detected by CT pose a significant clinical challenge, frequently necessitating long-term surveillance or biopsy for diagnosis. In this pilot investigation, we performed whole exome sequencing (WES) of pla ... Full text Link to item Cite

Pharmacodynamic study of radium-223 in men with bone metastatic castration resistant prostate cancer.

Journal Article PLoS One · 2019 BACKGROUND: Radium-223 is a targeted alpha-particle therapy that improves survival in men with metastatic castration resistant prostate cancer (mCRPC), particularly in men with elevated serum levels of bone alkaline phosphatase (B-ALP). We hypothesized tha ... Full text Link to item Cite

Epigenetic dysregulation of Oxtr in Tet1-deficient mice has implications for neuropsychiatric disorders.

Journal Article JCI Insight · December 6, 2018 OXTR modulates a variety of behaviors in mammals, including social memory and recognition. Genetic and epigenetic dysregulation of OXTR has been suggested to be implicated in neuropsychiatric disorders, including autism spectrum disorder (ASD). While the i ... Full text Link to item Cite

Yap1 As a Therapeutic Target in Fibrolamellar Carcinoma

Conference HEPATOLOGY · October 1, 2018 Link to item Cite

Shared decision making: a need for honesty?

Journal Article Br J Gen Pract · June 2018 Full text Link to item Cite

The PROPHECY trial: Multicenter prospective trial of circulating tumor cell (CTC) AR-V7 detection in men with mCRPC receiving abiraterone (A) or enzalutamide (E).

Conference Journal of Clinical Oncology · May 20, 2018 Full text Cite

Genomic and phenotypic evidence for prostate cancer osteomimicry in circulating tumor cells from men with metastatic castration resistant prostate cancer (mCRPC) treated with radium-223.

Conference Journal of Clinical Oncology · May 20, 2018 Full text Cite

Analysis of genomic alterations in matched circulating tumor cell DNA (CTC DNA) and plasma tumor DNA (ctDNA) in men with metastatic castration resistant prostate cancer (mCRPC).

Conference Journal of Clinical Oncology · May 20, 2018 Full text Cite

Fumonisin B1 (FB1) and Fingolimod (FTY720): Tortilla Toxin and Oral Therapeutic Target Sphingolipid Pathways during Neural Tube Closure

Conference BIRTH DEFECTS RESEARCH · May 15, 2018 Link to item Cite

Genomic and phenotypic evidence for prostate cancer osteomimicry in circulating tumor cells from men with metastatic castration resistant prostate cancer (mCRPC) treated with radium-223.

Conference Journal of Clinical Oncology · February 20, 2018 160 Background: Radium-223 is a targeted alpha therapy that improves survival in men with mCRPC. The biologic basis for radium-223 efficacy is not completely understood. We hypothesized that PC osteomimicry, a form of epithelial ... Full text Cite

Associations Between Residential Proximity to Traffic and Vascular Disease in a Cardiac Catheterization Cohort.

Journal Article Arterioscler Thromb Vasc Biol · January 2018 OBJECTIVE: Exposure to mobile source emissions is nearly ubiquitous in developed nations and is associated with multiple adverse health outcomes. There is an ongoing need to understand the specificity of traffic exposure associations with vascular outcomes ... Full text Link to item Cite

Satisfaction of doctors with their training: evidence from UK.

Journal Article BMC Health Serv Res · December 29, 2017 BACKGROUND: This study considers the primary training environment factors affecting the satisfaction of doctors in training with their training. METHODS: An OLS multiple regression analysis was performed on responses given by doctors in training (trainees) ... Full text Link to item Cite

Skewing the population balance between lymphoid and myeloid cells by osteopontin isoforms

Conference CYTOKINE · December 1, 2017 Link to item Cite

Genome-wide Analysis Identifies Genetic Variants Associated With a Novel Inflammatory Cardiovascular Biomarker, GlycA

Conference CIRCULATION · November 14, 2017 Link to item Cite

Skewing of the population balance of lymphoid and myeloid cells by secreted and intracellular osteopontin.

Journal Article Nat Immunol · September 2017 The balance of myeloid populations and lymphoid populations must be well controlled. Here we found that osteopontin (OPN) skewed this balance during pathogenic conditions such as infection and autoimmunity. Notably, two isoforms of OPN exerted distinct eff ... Full text Open Access Link to item Cite

Whole blood sequencing reveals circulating microRNA associations with high-risk traits in non-ST-segment elevation acute coronary syndrome.

Journal Article Atherosclerosis · June 2017 BACKGROUND AND AIMS: Although circulating microRNA (miRNAs) have emerged as biomarkers predicting mortality in acute coronary syndrome (ACS), more data are needed to understand these mechanisms. Mapping miRNAs to high-risk traits may identify miRNAs involv ... Full text Link to item Cite

Not 'just' a GP: a call for action.

Journal Article Br J Gen Pract · April 2017 Full text Link to item Cite

General practice: the heart of the NHS.

Journal Article Br J Gen Pract · April 2017 Full text Link to item Cite

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.

Journal Article Nat Commun · March 30, 2017 The structure of the cornea is vital to its transparency, and dystrophies that disrupt corneal organization are highly heritable. To understand the genetic aetiology of Fuchs endothelial corneal dystrophy (FECD), the most prevalent corneal disorder requiri ... Full text Link to item Cite

Human Epistatic Interaction Controls IL7R Splicing and Increases Multiple Sclerosis Risk.

Journal Article Cell · March 23, 2017 Multiple sclerosis (MS) is an autoimmune disorder where T cells attack neurons in the central nervous system (CNS) leading to demyelination and neurological deficits. A driver of increased MS risk is the soluble form of the interleukin-7 receptor alpha cha ... Full text Link to item Cite

Whole Genomic Copy Number Alterations in Circulating Tumor Cells from Men with Abiraterone or Enzalutamide-Resistant Metastatic Castration-Resistant Prostate Cancer.

Journal Article Clin Cancer Res · March 1, 2017 Purpose: Beyond enumeration, circulating tumor cells (CTCs) can provide genetic information from metastatic cancer that may facilitate a greater understanding of tumor biology and enable a precision medicine approach.Experimental Design: CTCs and paired le ... Full text Link to item Cite

A genome-wide trans-ethnic interaction study links the PIGR-FCAMR locus to coronary atherosclerosis via interactions between genetic variants and residential exposure to traffic.

Journal Article PLoS One · 2017 Air pollution is a worldwide contributor to cardiovascular disease mortality and morbidity. Traffic-related air pollution is a widespread environmental exposure and is associated with multiple cardiovascular outcomes such as coronary atherosclerosis, perip ... Full text Link to item Cite

Human centromere repositioning within euchromatin after partial chromosome deletion.

Journal Article Chromosome Res · December 2016 Centromeres are defined by a specialized chromatin organization that includes nucleosomes that contain the centromeric histone variant centromere protein A (CENP-A) instead of canonical histone H3. Studies in various organisms have shown that centromeric c ... Full text Link to item Cite

An interferon-β-resistant and NLRP3 inflammasome-independent subtype of EAE with neuronal damage.

Journal Article Nat Neurosci · December 2016 Inflammation induced by innate immunity influences the development of T cell-mediated autoimmunity in multiple sclerosis and its animal model, experimental autoimmune encephalomyelitis (EAE). We found that strong activation of innate immunity induced Nod-l ... Full text Link to item Cite

Genetic Modifiers of Renal Dysfunction in African-American APOL1 Carriers Identified Through a Genome-Wide Screen

Conference CIRCULATION · November 11, 2016 Link to item Cite

Interaction Between the FOXO1A-209 Genotype and Tea Drinking Is Significantly Associated with Reduced Mortality at Advanced Ages.

Journal Article Rejuvenation Res · June 2016 On the basis of the genotypic/phenotypic data from Chinese Longitudinal Healthy Longevity Survey (CLHLS) and Cox proportional hazard model, the present study demonstrates that interactions between carrying FOXO1A-209 genotypes and tea drinking are signific ... Full text Open Access Link to item Cite

Novel loci and pathways significantly associated with longevity.

Journal Article Sci Rep · February 25, 2016 Only two genome-wide significant loci associated with longevity have been identified so far, probably because of insufficient sample sizes of centenarians, whose genomes may harbor genetic variants associated with health and longevity. Here we report a gen ... Full text Open Access Link to item Cite

Integrated metabolomic and transcriptomic profiles of males with multiple sclerosis

Conference MULTIPLE SCLEROSIS JOURNAL · February 1, 2016 Link to item Cite

Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease.

Journal Article PLoS One · 2016 There is a growing literature indicating that genetic variants modify many of the associations between environmental exposures and clinical outcomes, potentially by increasing susceptibility to these exposures. However, genome-scale investigations of these ... Full text Link to item Cite

Case-Only Survival Analysis Reveals Unique Effects of Genotype, Sex, and Coronary Disease Severity on Survivorship.

Journal Article PLoS One · 2016 Survival bias may unduly impact genetic association with complex diseases; gene-specific survival effects may further complicate such investigations. Coronary artery disease (CAD) is a complex phenotype for which little is understood about gene-specific su ... Full text Link to item Cite

Evidence for fumonisin inhibition of ceramide synthase in humans consuming maize-based foods and living in high exposure communities in Guatemala.

Journal Article Mol Nutr Food Res · November 2015 SCOPE: Fumonisin (FB) occurs in maize and is an inhibitor of ceramide synthase (CerS). We determined the urinary FB1 (UFB1 ) and sphingoid base 1-phosphate levels in blood from women consuming maize in high and low FB exposure communities in Guatemala. MET ... Full text Link to item Cite

Metabolomic Quantitative Trait Loci (mQTL) Mapping Implicates the Ubiquitin Proteasome System in Cardiovascular Disease Pathogenesis.

Journal Article PLoS Genet · November 2015 Levels of certain circulating short-chain dicarboxylacylcarnitine (SCDA), long-chain dicarboxylacylcarnitine (LCDA) and medium chain acylcarnitine (MCA) metabolites are heritable and predict cardiovascular disease (CVD) events. Little is known about the bi ... Full text Open Access Link to item Cite

Association of Roadway Proximity with Fasting Plasma Glucose and Metabolic Risk Factors for Cardiovascular Disease in a Cross-Sectional Study of Cardiac Catheterization Patients.

Journal Article Environ Health Perspect · October 2015 BACKGROUND: The relationship between traffic-related air pollution (TRAP) and risk factors for cardiovascular disease needs to be better understood in order to address the adverse impact of air pollution on human health. OBJECTIVE: We examined associations ... Full text Link to item Cite

Epigenetic profiling identifies novel genes for ascending aortic aneurysm formation with bicuspid aortic valves.

Journal Article Heart Surg Forum · August 30, 2015 BACKGROUND: Bicuspid aortic valves predispose to ascending aortic aneurysms, but the mechanisms underlying this aortopathy remain incompletely characterized. We sought to identify epigenetic pathways predisposing to aneurysm formation in bicuspid patien ... Full text Link to item Cite

Pregnancy continuation and organizational religious activity following prenatal diagnosis of a lethal fetal defect are associated with improved psychological outcome.

Journal Article Prenat Diagn · August 2015 OBJECTIVE: The aim of the article is to examine the psychological impact, specifically symptoms of grief, post-traumatic stress and depression, in women and men who either terminated or continued a pregnancy following prenatal diagnosis of a lethal fetal d ... Full text Link to item Cite

Genomic analysis of circulating tumor cells (CTCs) from men with metastatic castration resistant prostate cancer (mCRPC) in the context of enzalutamide therapy.

Conference Journal of Clinical Oncology · May 20, 2015 Full text Cite

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Journal Article J Cell Biol · April 13, 2015 The Meckel syndrome (MKS) complex functions at the transition zone, located between the basal body and axoneme, to regulate the localization of ciliary membrane proteins. We investigated the role of Tmem231, a two-pass transmembrane protein, in MKS complex ... Full text Link to item Cite

Comparison of GC-MS and GC×GC-MS in the analysis of human serum samples for biomarker discovery.

Journal Article J Proteome Res · April 3, 2015 We compared the performance of gas chromatography time-of-flight mass spectrometry (GC-MS) and comprehensive two-dimensional gas chromatography mass spectrometry (GC×GC-MS) for metabolite biomarker discovery. Metabolite extracts from 109 human serum sample ... Full text Link to item Cite

Genetic variants associated with vein graft stenosis after coronary artery bypass grafting.

Journal Article Heart Surg Forum · February 27, 2015 BACKGROUND: Vein graft stenosis after coronary artery bypass grafting (CABG) is common. Identifying genes associated with vein graft stenosis after CABG could reveal novel mechanisms of disease and discriminate patients at risk for graft failure. We hypoth ... Full text Link to item Cite

Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation.

Journal Article BMC Genomics · January 22, 2015 BACKGROUND: Expression quantitative trait loci (eQTL) play an important role in the regulation of gene expression. Gene expression levels and eQTLs are expected to vary from tissue to tissue, and therefore multi-tissue analyses are necessary to fully under ... Full text Open Access Link to item Cite

Human health implications from co-exposure to aflatoxins and fumonisins in maize-based foods in Latin America: Guatemala as a case study

Journal Article World Mycotoxin Journal · January 1, 2015 Co-occurrence of fumonisin B1 (FB1) and aflatoxin B1 (AFB1) in maize has been demonstrated in many surveys. Combined-exposure to FB1 and AFB1 was of concern to the Joint FAO/WHO Expert Commi ... Full text Cite

A blood spot method for detecting fumonisin-induced changes in putative sphingolipid biomarkers in LM/Bc mice and humans.

Journal Article Food Addit Contam Part A Chem Anal Control Expo Risk Assess · 2015 Fumonisins (FB) are mycotoxins found in maize. They are hypothesised risk factors for neural tube defects (NTDs) in humans living where maize is a dietary staple. In LM/Bc mice, FB1-treatment of pregnant dams induces NTDs and results in increased levels of ... Full text Link to item Cite

Using circulating tumor cells to inform on prostate cancer biology and clinical utility.

Journal Article Crit Rev Clin Lab Sci · 2015 Substantial advances in the molecular biology of prostate cancer have led to the approval of multiple new systemic agents to treat men with metastatic castration-resistant prostate cancer (mCRPC). These treatments encompass androgen receptor directed thera ... Full text Link to item Cite

DNA Methylation Profiling Identifies Novel Epigenetic Markers of Cardiovascular Events

Conference CIRCULATION · November 25, 2014 Link to item Cite

Missing genetic risk in neural tube defects: can exome sequencing yield an insight?

Journal Article Birth Defects Res A Clin Mol Teratol · August 2014 BACKGROUND: Neural tube defects (NTD) have a strong genetic component, with up to 70% of variance in human prevalence determined by heritable factors. Although the identification of causal DNA variants by sequencing candidate genes from functionally releva ... Full text Link to item Cite

Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics.

Journal Article BMC Med Genomics · June 25, 2014 BACKGROUND: Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum at the base of the skull, resulting in significant neurologic morbidity. As CMI patients display a high degree of clinical vari ... Full text Open Access Link to item Cite

Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy.

Journal Article Invest Ophthalmol Vis Sci · June 10, 2014 PURPOSE: We investigated whether mitochondrial DNA (mtDNA) variants affect the susceptibility of Fuchs endothelial corneal dystrophy (FECD). METHODS: Ten mtDNA variants defining European haplogroups were genotyped in a discovery dataset consisting of 530 c ... Full text Link to item Cite

Genomic analysis of circulating tumor cells (CTCs) from men with metastatic castration resistant prostate cancer (mCRPC) in the context of enzalutamide therapy.

Conference Journal of Clinical Oncology · May 20, 2014 Full text Cite

Urinary fumonisin B1 and estimated fumonisin intake in women from high- and low-exposure communities in Guatemala.

Journal Article Mol Nutr Food Res · May 2014 SCOPE: Fumonisin (FB) intake can be high when maize is a dietary staple. We determined (i) urinary FB (UFB) in women consuming maize in high- and low-exposure communities in Guatemala, (ii) the FB levels in maize, (iii) the relationship between UFB and FB ... Full text Link to item Cite

Association of autism with induced or augmented childbirth.

Journal Article Am J Obstet Gynecol · May 2014 Full text Link to item Cite

OMICS PROFILING HIGHLIGHTS ENDOPLASMIC RETICULUM-ASSOCIATED DEGRADATION AND UBIQUITIN PROTEASOME PATHWAYS IN INSULIN RESISTANCE AND GLYCEMIC CONTROL

Journal Article Journal of the American College of Cardiology · April 2014 Full text Cite

Genetic predisposition of behavioral response.

Journal Article Proc Natl Acad Sci U S A · February 4, 2014 Full text Link to item Cite

Induction or augmentation of labor and autism--reply.

Journal Article JAMA Pediatr · February 2014 Full text Link to item Cite

Genomic analysis of circulating tumor cells (CTCs) from men with metastatic castration resistant prostate cancer (mCRPC) in the context of enzalutamide therapy.

Conference Journal of Clinical Oncology · February 1, 2014 65 Background: Given the evolving treatments available in metastatic castration resistant prostate cancer (mCRPC), predictive biomarkers are desirable that maximize benefit and minimize harms and costs.The goal of this study was ... Full text Cite

Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari type I malformation.

Journal Article Ann Hum Genet · January 2014 Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the base of the skull. Although cerebellar tonsillar herniation (CTH) is hypothesized to result from an underdeveloped posterior cranial fossa (PF), patients ... Full text Link to item Cite

Association of Autism With Induced or Augmented Childbirth in North Carolina Birth Record (1990–1998) and Education Research (1997–2007) Databases

Journal Article Obstetrical & Gynecological Survey · January 2014 Full text Cite

The epigenetics of Autism-Running beyond the bases

Chapter · January 1, 2014 Previous studies have established that there is a strong genetic component to the development of ASD, but these genetic risks do not account for all of the heritability of the disorder. This raises the prospect that alternative, epigenetic mechanisms may p ... Full text Cite

Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis.

Journal Article Hum Mol Genet · December 20, 2013 Smooth muscle cell (SMC) proliferation is a hallmark of vascular injury and disease. Global hypomethylation occurs during SMC proliferation in culture and in vivo during neointimal formation. Regardless of the programmed or stochastic nature of hypomethyla ... Full text Link to item Cite

Gene-smoking interactions in multiple Rho-GTPase pathway genes in an early-onset coronary artery disease cohort.

Journal Article Hum Genet · December 2013 We performed a gene-smoking interaction analysis using families from an early-onset coronary artery disease cohort (GENECARD). This analysis was focused on validating and expanding results from previous studies implicating single nucleotide polymorphisms ( ... Full text Link to item Cite

Rare Variants Identified With Whole Exome Chip Genotyping Are Associated With Insulin Resistance and Glycemic Control

Conference CIRCULATION · November 26, 2013 Link to item Cite

Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype.

Journal Article Birth Defects Res B Dev Reprod Toxicol · October 2013 Neural tube defects (NTDs) are caused by improper neural tube closure during the early stages of embryonic development. NTDs are hypothesized to have a complex genetic origin and numerous candidate genes have been proposed. The nitric oxide synthase 3 (NOS ... Full text Link to item Cite

Association of autism with induced or augmented childbirth in North Carolina Birth Record (1990-1998) and Education Research (1997-2007) databases.

Journal Article JAMA Pediatr · October 2013 IMPORTANCE: One in 88 children in the United States is diagnosed as having autism spectrum disorder. Significant interest centers on understanding the environmental factors that may contribute to autism risk. OBJECTIVE: To examine whether induced (stimulat ... Full text Link to item Cite

Interactions between social/ behavioral factors and ADRB2 genotypes may be associated with health at advanced ages in China.

Journal Article BMC Geriatr · September 9, 2013 BACKGROUND: Existing literature indicates that ADRB2 gene is associated with health and longevity, but none of previous studies investigated associations of carrying the ADRB2 minor alleles and interactions between ADRB2 genotypes and social/behavioral fac ... Full text Open Access Link to item Cite

Outcome and life satisfaction of adults with myelomeningocele.

Journal Article Disabil Health J · July 2013 BACKGROUND: Myelomeningocele (MMC) commonly causes impairments in body structure and functions as well as cognitive disabilities that can have an adverse effect on adult life. Improved medical care has resulted in increased numbers of individuals with MMC ... Full text Link to item Cite

Pilot Study of Sustained Oxytocin Treatment in Children and Adolescents with Autistic Disorder

Conference BIOLOGICAL PSYCHIATRY · May 1, 2013 Link to item Cite

Association of Gene Expression Signatures with Small Molecule Metabolic Intermediates that Predict Cardiovascular Mortality in CATHGEN

Conference CIRCULATION · March 26, 2013 Link to item Cite

Genetics of the Chiari i and II malformations

Chapter · March 1, 2013 Chiari malformations are considered to have a multifactorial etiology, likely influenced by environmental and genetic factors. This chapter will detail the evidence that supports a genetic contribution to the disorder, including discussions of twin studies ... Full text Cite

Genetic screen of African Americans with Fuchs endothelial corneal dystrophy.

Journal Article Mol Vis · 2013 PURPOSE: Fuchs endothelial corneal dystrophy (FECD) is a genetically heterogeneous disorder that has been primarily studied in patients of European or Asian ancestry. Given the sparse literature on African Americans with FECD, we sought to characterize the ... Link to item Cite

Cleavage and polyadenylation specificity factor 1 (CPSF1) regulates alternative splicing of interleukin 7 receptor (IL7R) exon 6.

Journal Article RNA · January 2013 Interleukin 7 receptor, IL7R, is expressed exclusively on cells of the lymphoid lineage, and its expression is crucial for the development and maintenance of T cells. Alternative splicing of IL7R exon 6 results in membrane-bound (exon 6 included) and solub ... Full text Link to item Cite

Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.

Journal Article PLoS One · 2013 Chiari Type I Malformation (CMI) is characterized by displacement of the cerebellar tonsils below the base of the skull, resulting in significant neurologic morbidity. Although multiple lines of evidence support a genetic contribution to disease, no genes ... Full text Open Access Link to item Cite

Genome-wide linkage analysis of cardiovascular disease biomarkers in a large, multigenerational family.

Journal Article PLoS One · 2013 Given the importance of cardiovascular disease (CVD) to public health and the demonstrated heritability of both disease status and its related risk factors, identifying the genetic variation underlying these susceptibilities is a critical step in understan ... Full text Open Access Link to item Cite

Integration of Whole Genome Methylation with Metabolomics Identifies Novel Cardiovascular Disease Genes

Journal Article CIRCULATION · November 20, 2012 Link to item Cite

Genetic Variants in the Bone Morphogenic Protein (BMP) Family of Genes Interact with Mobile Source Air Pollution to Increase Risk of Peripheral Arterial Disease

Journal Article CIRCULATION · November 20, 2012 Link to item Cite

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).

Journal Article Birth Defects Res A Clin Mol Teratol · September 2012 BACKGROUND: Neural tube defects (NTDs) are common human birth defects with a complex etiology. To develop a comprehensive knowledge of the genes expressed during normal neurulation, we established transcriptomes from human neural tube fragments during and ... Full text Link to item Cite

The kinetics of urinary fumonisin B1 excretion in humans consuming maize-based diets.

Journal Article Mol Nutr Food Res · September 2012 SCOPE: Fumonisins (FB) are mycotoxins found in maize. The purpose of this study was to (i) determine the relationship between FB(1) , FB(2) , and FB(3) intake and urinary excretion in humans, (ii) validate a method to isolate urinary FB on C(18) -SPE cartr ... Full text Link to item Cite

Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations.

Journal Article J Neurosurg Pediatr · April 2012 OBJECT: Although Chiari Type I (CM-I) and Type 0 (CM-0) malformations have been previously characterized clinically and radiologically, there have been no studies focusing on the possible genetic link between these disorders. The goal of this study was to ... Full text Link to item Cite

Fine mapping of a linkage peak with integration of lipid traits identifies novel coronary artery disease genes on chromosome 5.

Journal Article BMC Genet · February 27, 2012 BACKGROUND: Coronary artery disease (CAD), and one of its intermediate risk factors, dyslipidemia, possess a demonstrable genetic component, although the genetic architecture is incompletely defined. We previously reported a linkage peak on chromosome 5q31 ... Full text Link to item Cite

Deletion or epigenetic silencing of AJAP1 on 1p36 in glioblastoma.

Journal Article Mol Cancer Res · February 2012 Glioblastoma is universally fatal because of its propensity for rapid recurrence due to highly migratory tumor cells. Unraveling the genomic complexity that underlies this migratory characteristic could provide therapeutic targets that would greatly comple ... Full text Link to item Cite

Association of mtDNA haplogroup F with healthy longevity in the female Chuang population, China.

Journal Article Exp Gerontol · December 2011 Human longevity is a complex heritable genetic trait. Based on substantial evidence from model organisms, it is clear that mitochondria play a pivotal role in aging and lifespan. However, the effects that mitochondrial genome variations have upon longevity ... Full text Link to item Cite

Genome-Wide Association Identifies Genetic Variants Associated With Vein Graft Stenosis After Coronary Artery Bypass Grafting

Conference CIRCULATION · November 22, 2011 Link to item Cite

Genomic Rearrangements in Autism: The Contribution of Copy Number Loss and Gain to the Etiology of Autism Spectrum Disorders.

Chapter · October 1, 2011 Link to item Cite

A stress response pathway regulates DNA damage through β2-adrenoreceptors and β-arrestin-1.

Journal Article Nature · August 21, 2011 The human mind and body respond to stress, a state of perceived threat to homeostasis, by activating the sympathetic nervous system and secreting the catecholamines adrenaline and noradrenaline in the 'fight-or-flight' response. The stress response is gene ... Full text Link to item Cite

Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease.

Journal Article Hum Genet · June 2011 Featured Publication Tenascin-C (TNC) is an extracellular matrix protein implicated in biological processes important for atherosclerotic plaque development and progression, including smooth muscle cell migration and proliferation. Previously, we observed differential expressi ... Full text Link to item Cite

Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.

Journal Article PLoS One · April 20, 2011 Fuchs endothelial corneal dystrophy (FECD) is a common, late-onset disorder of the corneal endothelium. Although progress has been made in understanding the genetic basis of FECD by studying large families in which the phenotype is transmitted in an autoso ... Full text Link to item Cite

The S1103Y cardiac sodium channel variant is associated with implantable cardioverter-defibrillator events in blacks with heart failure and reduced ejection fraction.

Journal Article Circ Cardiovasc Genet · April 2011 BACKGROUND: Risk-stratifying heart failure patients for primary prevention implantable cardioverter-defibrillators (ICDs) remains a challenge, especially for blacks, who have an increased incidence of sudden cardiac death but have been underrepresented in ... Full text Link to item Cite

HDMX regulates p53 activity and confers chemoresistance to 3-bis(2-chloroethyl)-1-nitrosourea.

Journal Article Neuro Oncol · September 2010 Glioblastoma multiforme (GBM) is one of the deadliest tumors afflicting humans, and the mechanisms of its onset and progression remain largely undefined. Our attempts to elucidate its molecular pathogenesis through DNA copy-number analysis by genome-wide d ... Full text Link to item Cite

Integrated genomic analyses identify ERRFI1 and TACC3 as glioblastoma-targeted genes.

Journal Article Oncotarget · August 2010 The glioblastoma genome displays remarkable chromosomal aberrations, which harbor critical glioblastoma-specific genes contributing to several oncogenetic pathways. To identify glioblastoma-targeted genes, we completed a multifaceted genome-wide analysis t ... Full text Link to item Cite

Aging-related atherosclerosis is exacerbated by arterial expression of tumor necrosis factor receptor-1: evidence from mouse models and human association studies.

Journal Article Hum Mol Genet · July 15, 2010 Aging is believed to be among the most important contributors to atherosclerosis, through mechanisms that remain largely obscure. Serum levels of tumor necrosis factor (TNF) rise with aging and have been correlated with the incidence of myocardial infarcti ... Full text Open Access Link to item Cite

Distinct patterns of 1p and 19q alterations identify subtypes of human gliomas that have different prognoses.

Journal Article Neuro Oncol · July 2010 We studied the status of chromosomes 1 and 19 in 363 astrocytic and oligodendroglial tumors. Whereas the predominant pattern of copy number abnormality was a concurrent loss of the entire 1p and 19q regions (total 1p/19q loss) among oligodendroglial tumors ... Full text Link to item Cite

Nonobese diabetic congenic strain analysis of autoimmune diabetes reveals genetic complexity of the Idd18 locus and identifies Vav3 as a candidate gene.

Journal Article J Immunol · May 1, 2010 We have used the public sequencing and annotation of the mouse genome to delimit the previously resolved type 1 diabetes (T1D) insulin-dependent diabetes (Idd)18 interval to a region on chromosome 3 that includes the immunologically relevant candidate gene ... Full text Link to item Cite

Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended family.

Journal Article Arthritis Rheum · March 2010 OBJECTIVE: The genetic contributions to the multifactorial disorder osteoarthritis (OA) have been increasingly recognized. The goal of the current study was to use OA-related biomarkers of severity and disease burden as quantitative traits to identify gene ... Full text Link to item Cite

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

Journal Article Am J Hum Genet · January 2010 Fuchs corneal dystrophy (FCD) is a degenerative genetic disorder of the corneal endothelium that represents one of the most common causes of corneal transplantation in the United States. Despite its high prevalence (4% over the age of 40), the underlying g ... Full text Link to item Cite

Alternative splicing in multiple sclerosis and other autoimmune diseases.

Journal Article RNA Biol · 2010 Featured Publication Alternative splicing is a general mechanism for regulating gene expression that affects the RNA products of more than 90% of human genes. Not surprisingly, alternative splicing is observed among gene products of metazoan immune systems, which have evolved ... Full text Open Access Link to item Cite

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.

Journal Article BMC Med · October 22, 2009 Featured Publication BACKGROUND: Autism comprises a spectrum of behavioral and cognitive disturbances of childhood development and is known to be highly heritable. Although numerous approaches have been used to identify genes implicated in the development of autism, less than ... Full text Link to item Cite

New machine-marked tests for selection into core medical training: evidence from two validation studies.

Journal Article Clin Med (Lond) · October 2009 This study examined whether two machine-marked tests (MMTs; a clinical problem-solving test and situational judgement test), previously validated for selection into U.K. general practice (GP) training, could provide a valid methodology for shortlisting int ... Full text Link to item Cite

Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis.

Journal Article Genes Immun · October 2009 Multiple sclerosis (MS) is a debilitating neuroimmunological and neurodegenerative disease affecting >4,00,000 individuals in the United States. Population and family-based studies have suggested that there is a strong genetic component. Numerous genomic l ... Full text Link to item Cite

A general integrative genomic feature transcription factor binding site prediction method applied to analysis of USF1 binding in cardiovascular disease.

Journal Article Hum Genomics · April 2009 Transcription factors are key mediators of human complex disease processes. Identifying the target genes of transcription factors will increase our understanding of the biological network leading to disease risk. The prediction of transcription factor bind ... Full text Link to item Cite

Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis.

Journal Article Hum Genet · March 2009 Leukotrienes are arachidonic acid derivatives long known for their inflammatory properties and their involvement with a number of human diseases, most particularly asthma. Recently, leukotriene-based inflammation has also been shown to play an important ro ... Full text Link to item Cite

Genome-wide linkage scan in fuchs endothelial corneal dystrophy.

Journal Article Invest Ophthalmol Vis Sci · March 2009 PURPOSE: To perform a genome-wide linkage screen with a single-nucleotide polymorphism (SNP) linkage panel to identify regions of genetic linkage in Fuchs endothelial corneal dystrophy (FECD) and to analyze affected individuals for mutations in the COL8A2 ... Full text Link to item Cite

Learning specialist skills for a generalist discipline.

Journal Article Br J Gen Pract · February 2009 Full text Link to item Cite

Neuropeptide Y gene polymorphisms confer risk of early-onset atherosclerosis.

Journal Article PLoS Genet · January 2009 Neuropeptide Y (NPY) is a strong candidate gene for coronary artery disease (CAD). We have previously identified genetic linkage to familial CAD in the genomic region of NPY. We performed follow-up genetic, biostatistical, and functional analysis of NPY in ... Full text Open Access Link to item Cite

IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production.

Journal Article PLoS Genet · January 2009 Multiple sclerosis (MS) and type 1 diabetes (T1D) are organ-specific autoimmune disorders with significant heritability, part of which is conferred by shared alleles. For decades, the Human Leukocyte Antigen (HLA) complex was the only known susceptibility ... Full text Link to item Cite

Mapping techniques

Journal Article · December 1, 2008 In 1920, German botanist Hans Winkler first used the term genome, reputedly by the fusion of GENe and chromosOME, in order to describe the complex notion of the entire set of chromosomes and all of the genes contained within an organism. A great deal of pr ... Full text Cite

ALOX5AP variants are associated with in-stent restenosis after percutaneous coronary intervention.

Journal Article Atherosclerosis · November 2008 BACKGROUND: Use of drug-eluting stents (DES) has reduced in-stent restenosis after percutaneous coronary intervention (PCI); however, DES are associated with late stent thrombosis. There is no accurate way to predict in-stent restenosis, although risk fact ... Full text Link to item Cite

Biliverdin Reductase Genetic Polymorphisms are Associated with Early-Onset Coronary Artery Disease In Two Datasets

Journal Article CIRCULATION · October 28, 2008 Link to item Cite

Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects.

Journal Article Birth Defects Res A Clin Mol Teratol · October 2008 BACKGROUND: Neural tube defects (NTDs), including spina bifida and anencephaly, are the second most common birth defect with an incidence of 1/1000. Genetic factors are believed to contribute to NTD risk and family-based studies can be useful for identifyi ... Full text Link to item Cite

Polymorphisms of the tumor suppressor gene LSAMP are associated with left main coronary artery disease.

Journal Article Ann Hum Genet · July 2008 Previous association mapping on chromosome 3q13-21 detected evidence for association at the limbic system-associated membrane protein (LSAMP) gene in individuals with late-onset coronary artery disease (CAD). LSAMP has never been implicated in the pathogen ... Full text Link to item Cite

Refinement of 2q and 7p loci in a large multiplex NTD family.

Journal Article Birth Defects Res A Clin Mol Teratol · June 2008 BACKGROUND: NTDs are considered complex disorders that arise from an interaction between genetic and environmental factors. NTD family 8776 is a large multigenerational Caucasian family that provides a unique resource for the genetic analysis of NTDs. Prev ... Full text Link to item Cite

A gene expression signature of confinement in peripheral blood of red wolves (Canis rufus).

Journal Article Mol Ecol · June 2008 The stresses that animals experience as a result of modification of their ecological circumstances induce physiological changes that leave a signature in profiles of gene expression. We illustrate this concept in a comparison of free range and confined Nor ... Full text Link to item Cite

Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets.

Journal Article Hum Mol Genet · May 1, 2008 Platelet-activating factor acetylhydrolase (PLA2G7) is a potent pro- and anti-inflammatory molecule that has been implicated in multiple inflammatory disease processes, including cardiovascular disease. The goal of this study was to investigate the genetic ... Full text Link to item Cite

Genetic and functional association of FAM5C with myocardial infarction.

Journal Article BMC Med Genet · April 22, 2008 Featured Publication BACKGROUND: We previously identified a 40 Mb region of linkage on chromosome 1q in our early onset coronary artery disease (CAD) genome-wide linkage scan (GENECARD) with modest evidence for linkage (n = 420, LOD 0.95). When the data are stratified by acute ... Full text Link to item Cite

1p36 is a preferential target of chromosome 1 deletions in astrocytic tumours and homozygously deleted in a subset of glioblastomas.

Journal Article Oncogene · March 27, 2008 Astrocytic, oligodendroglial and mixed gliomas are the commonest gliomas in adults. They have distinct phenotypes and clinical courses, but as they exist as a continuous histological spectrum, differentiating them can be difficult. Co-deletions of total 1p ... Full text Link to item Cite

A multi-stage evaluation of genetic association with early-onset coronary artery disease in MYLK gene

Conference CIRCULATION · October 16, 2007 Link to item Cite

Genomic convergence identified CAPG and VAMP8 as candidate genes for CAD

Conference CIRCULATION · October 16, 2007 Link to item Cite

Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis.

Journal Article Nat Genet · September 2007 Featured Publication Multiple sclerosis is a demyelinating neurodegenerative disease with a strong genetic component. Previous genetic risk studies have failed to identify consistently linked regions or genes outside of the major histocompatibility complex on chromosome 6p. We ... Full text Link to item Cite

Risk alleles for multiple sclerosis identified by a genomewide study.

Journal Article N Engl J Med · August 30, 2007 BACKGROUND: Multiple sclerosis has a clinically significant heritable component. We conducted a genomewide association study to identify alleles associated with the risk of multiple sclerosis. METHODS: We used DNA microarray technology to identify common D ... Full text Link to item Cite

SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approach.

Journal Article BMC Genomics · August 6, 2007 BACKGROUND: Although genes play a key role in many complex diseases, the specific genes involved in most complex diseases remain largely unidentified. Their discovery will hinge on the identification of key sequence variants that are conclusively associate ... Full text Link to item Cite

Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease.

Journal Article Am J Hum Genet · April 2007 A susceptibility locus for coronary artery disease (CAD) has been mapped to chromosome 3q13-21 in a linkage study of early-onset CAD. We completed an association-mapping study across the 1-LOD-unit-down supporting interval, using two independent white case ... Full text Link to item Cite

Variants in genes associated with inflammation and vascular cell function are associated with vulnerable plaque

Conference JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY · March 6, 2007 Link to item Cite

ALOX5AP genetic variants are associated with in-stent restenosis after percutaneous coronary intervention

Conference JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY · March 6, 2007 Link to item Cite

A second major histocompatibility complex susceptibility locus for multiple sclerosis.

Journal Article Ann Neurol · March 2007 OBJECTIVE: Variation in the major histocompatibility complex (MHC) on chromosome 6p21 is known to influence susceptibility to multiple sclerosis with the strongest effect originating from the HLA-DRB1 gene in the class II region. The possibility that other ... Full text Link to item Cite

Complex gene-gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genes.

Journal Article Neurogenetics · January 2007 The complex inheritance involved in multiple sclerosis (MS) risk has been extensively investigated, but our understanding of MS genetics remains rudimentary. In this study, we explore 51 single nucleotide polymorphisms (SNPs) in 36 candidate genes from the ... Full text Link to item Cite

Identification of kalirin gene as a novel coronary artery disease gene through peak-wide association mapping on chromosome 3q13-21

Conference CIRCULATION · October 31, 2006 Link to item Cite

Erratum: The DNA sequence and biological annotation of human chromosome 1 (Nature (2006) 441 (315-321))

Journal Article Nature · October 26, 2006 Full text Cite

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.

Journal Article Nat Genet · October 2006 The proteins encoded by the classical HLA class I and class II genes in the major histocompatibility complex (MHC) are highly polymorphic and are essential in self versus non-self immune recognition. HLA variation is a crucial determinant of transplant rej ... Full text Link to item Cite

Characterizing genomic rearrangements in oligodendroglioma using whole genome tilepath hrCGH arrays

Conference NEURO-ONCOLOGY · October 1, 2006 Link to item Cite

Array CGH profiling of favourable histology Wilms tumours reveals novel gains and losses associated with relapse.

Journal Article J Pathol · September 2006 Despite the excellent survival of Wilms tumour patients treated with multimodality therapy, approximately 15% will suffer from tumour relapse, where response rates are markedly reduced. We have carried out microarray-based comparative genomic hybridisation ... Full text Link to item Cite

GATA2 is associated with familial early-onset coronary artery disease.

Journal Article PLoS Genet · August 25, 2006 Featured Publication The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the aortic vasculature, namely aortic endothelial cells and s ... Full text Link to item Cite

GATA2 is associated with familial early-onset coronary artery disease.

Journal Article PLoS genetics · August 25, 2006 The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the aortic vasculature, namely aortic endothelial cells and s ... Full text Cite

Allelic association of sequence variants in the herpes virus entry mediator-B gene (PVRL2) with the severity of multiple sclerosis.

Journal Article Genes Immun · July 2006 Featured Publication Discrepant findings have been reported regarding an association of the apolipoprotein E (APOE) gene with the clinical course of multiple sclerosis (MS). To resolve these discrepancies, we examined common sequence variation in six candidate genes residing i ... Full text Link to item Cite

Multifactor dimensionality reduction reveals gene-gene interactions associated with multiple sclerosis susceptibility in African Americans.

Journal Article Genes Immun · June 2006 Multiple sclerosis (MS) is a common disease of the central nervous system characterized by inflammation, myelin loss, gliosis, varying degrees of axonal pathology, and progressive neurological dysfunction. Multiple sclerosis exhibits many of the characteri ... Full text Link to item Cite

The DNA sequence and biological annotation of human chromosome 1.

Journal Article Nature · May 18, 2006 Featured Publication The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 ... Full text Link to item Cite

Characterizing oligodendroglioma rearrangements using whole genome hrCGH arrays

Conference CANCER RESEARCH · April 1, 2006 Link to item Cite

Profiling of DNA copy number changes in sarcomas by array comparative genomic hybridization

Conference CANCER RESEARCH · April 1, 2006 Link to item Cite

Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH.

Journal Article Int J Cancer · March 1, 2006 Pheochromocytoma is a predominantly sporadic neuroendocrine tumor derived from the adrenal medulla. Previous low resolution LOH and metaphase-CGH studies reported the loss of chromosomes 1p, 3q, 17p and 22q at various frequencies. However, the molecular me ... Full text Link to item Cite

Synteny mapping

Chapter · January 1, 2006 The level of sequence homology between distantly related species facilitates the construction of a sequence-ready physical map. The map is rapidly constructed using a highly redundant restriction digest database and alignment of BAC end sequence to a refer ... Full text Cite

Examination of seven candidate regions for multiple sclerosis: strong evidence of linkage to chromosome 1q44.

Journal Article Genes Immun · January 2006 Multiple sclerosis (MS) is a debilitating neuroimmunological and neurodegenerative disease with a strong genetic component. Numerous studies have failed to consistently identify genes that confer disease susceptibility except for association with HLA-DR. S ... Full text Link to item Cite

SNPselector: a web tool for selecting SNPs for genetic association studies.

Journal Article Bioinformatics · November 15, 2005 SUMMARY: Single nucleotide polymorphisms (SNPs) are commonly used for association studies to find genes responsible for complex genetic diseases. With the recent advance of SNP technology, researchers are able to assay thousands of SNPs in a single experim ... Full text Link to item Cite

Mapping and characterization of the amplicon near APOA2 in 1q23 in human sarcomas by FISH and array CGH.

Journal Article Mol Cancer · November 7, 2005 BACKGROUND: Amplification of the q21-q23 region on chromosome 1 is frequently found in sarcomas and a variety of other solid tumours. Previous analyses of sarcomas have indicated the presence of at least two separate amplicons within this region, one locat ... Full text Link to item Cite

Strategies for genotype generation.

Chapter · November 2005 The identification of genomic loci linked to human disease has been greatly facilitated by the evolution of genotyping strategies and techniques. The success of these strategies continues to be based upon clear clinical assessment, accurate sample handling ... Full text Link to item Cite

Identification of a novel locus for left main coronary artery disease

Conference CIRCULATION · October 25, 2005 Link to item Cite

Genomics and Bioinformatics

Chapter · October 7, 2005 Full text Cite

A high-density screen for linkage in multiple sclerosis.

Journal Article Am J Hum Genet · September 2005 To provide a definitive linkage map for multiple sclerosis, we have genotyped the Illumina BeadArray linkage mapping panel (version 4) in a data set of 730 multiplex families of Northern European descent. After the application of stringent quality threshol ... Full text Link to item Cite

Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma.

Journal Article Oncogene · April 14, 2005 Substantial genomic and functional evidence from primary tumors and cell lines indicates that a consistent region of distal chromosome 1p is deleted in a sizable proportion of human neuroblastomas, suggesting that this region contains one or more tumor sup ... Full text Link to item Cite

Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci.

Journal Article Cancer Res · April 1, 2005 Meningiomas are common neoplasms of the meninges lining of the central nervous system. Deletions of 1p have been established as important for the initiation and/or progression of meningioma. The rationale of this array-CGH study was to characterize copy nu ... Full text Link to item Cite

The DNA sequence of the human X chromosome.

Journal Article Nature · March 17, 2005 The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X chromosome. Our analysis illustrates the autosomal origin of the m ... Full text Link to item Cite

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

Journal Article J Med Genet · February 2005 Full text Link to item Cite

Natural genetic variants influencing type 1 diabetes in humans and in the NOD mouse.

Journal Article Novartis Found Symp · 2005 The understanding of the genetic basis of type 1 diabetes and other autoimmune diseases and the application of that knowledge to their treatment, cure and eventual prevention has been a difficult goal to reach. Cumulative progress in both mouse and human a ... Full text Link to item Cite

Organization of the MASP2 locus and its expression profile in mouse and rat.

Journal Article Mamm Genome · November 2004 The mouse, rat, and human MASP2 loci are situated on syntenic chromosome regions and are highly conserved. They comprise the genes for MASP-2/ MAp19, TAR DNA binding protein of 43 kDa, FRAP kinase, CDT6, Polymyositis-Scleroderma 100-kDa autoantigen, spermi ... Full text Link to item Cite

Organization and evolution of a gene-rich region of the mouse genome: a 12.7-Mb region deleted in the Del(13)Svea36H mouse.

Journal Article Genome Res · October 2004 Del(13)Svea36H (Del36H) is a deletion of approximately 20% of mouse chromosome 13 showing conserved synteny with human chromosome 6p22.1-6p22.3/6p25. The human region is lost in some deletion syndromes and is the site of several disease loci. Heterozygous ... Full text Link to item Cite

Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping.

Journal Article Hum Mol Genet · September 1, 2004 To explore the potential value of recently developed high-density linkage mapping methods in the analysis of complex disease we have regenotyped five nuclear families first studied in the 1996 UK multiple sclerosis linkage genome screen, using Applied Bios ... Full text Link to item Cite

Fine mapping, gene content, comparative sequencing, and expression analyses support Ctla4 and Nramp1 as candidates for Idd5.1 and Idd5.2 in the nonobese diabetic mouse.

Journal Article J Immunol · July 1, 2004 At least two loci that determine susceptibility to type 1 diabetes in the NOD mouse have been mapped to chromosome 1, Idd5.1 (insulin-dependent diabetes 5.1) and Idd5.2. In this study, using a series of novel NOD.B10 congenic strains, Idd5.1 has been defin ... Full text Link to item Cite

Comprehensive analysis of candidate modifier genes for multiple sclerosis (MS) on chromosome 19q13

Conference AMERICAN JOURNAL OF HUMAN GENETICS · November 1, 2003 Link to item Cite

Identification of a structurally distinct CD101 molecule encoded in the 950-kb Idd10 region of NOD mice.

Journal Article Diabetes · June 2003 Genes affecting autoimmune type 1 diabetes susceptibility in the nonobese diabetic (NOD) mouse (Idd loci) have been mapped using a congenic strain breeding strategy. In the present study, we used a combination of BAC clone contig construction, polymorphism ... Full text Link to item Cite

Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease.

Journal Article Nature · May 29, 2003 Genes and mechanisms involved in common complex diseases, such as the autoimmune disorders that affect approximately 5% of the population, remain obscure. Here we identify polymorphisms of the cytotoxic T lymphocyte antigen 4 gene (CTLA4)--which encodes a ... Full text Link to item Cite

Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.

Journal Article Hum Genet · February 2003 Familial cold autoinflammatory syndrome (FCAS) is an autosomal dominant inflammatory disease with a high degree of penetrance that is characterized by episodes of rash, arthralgia, fever, conjunctivitis, and leukocytosis after generalized exposure to cold. ... Full text Link to item Cite

Initial sequencing and comparative analysis of the mouse genome.

Journal Article Nature · December 5, 2002 The sequence of the mouse genome is a key informational tool for understanding the contents of the human genome and a key experimental tool for biomedical research. Here, we report the results of an international collaboration to produce a high-quality dra ... Full text Link to item Cite

Linkage and association with type 1 diabetes on chromosome 1q42.

Journal Article Diabetes · November 2002 Type 1 diabetes is a complex disorder with multiple genetic loci and environmental factors contributing to disease etiology. In the current study, a human type 1 diabetes candidate region on chromosome 1q42 was mapped at high marker density in a panel of 6 ... Full text Link to item Cite

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

Journal Article Nat Genet · November 2002 The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations. A si ... Full text Link to item Cite

A physical map of the mouse genome.

Journal Article Nature · August 15, 2002 Featured Publication A physical map of a genome is an essential guide for navigation, allowing the location of any gene or other landmark in the chromosomal DNA. We have constructed a physical map of the mouse genome that contains 296 contigs of overlapping bacterial clones an ... Full text Link to item Cite

A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation.

Journal Article Hum Genet · March 2002 Ptosis is defined as drooping of the upper eyelid and can impair full visual acuity. It occurs in a number of forms including congenital bilateral isolated ptosis, which may be familial and for which two linkage groups are known on chromosomes 1p32-34.1 an ... Full text Link to item Cite

Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41.

Journal Article Hum Mutat · November 2001 Van der Woude syndrome (VWS) is an orofacial clefting disorder with an autosomal dominant pattern of inheritance. In our efforts to clone the VWS gene, 900 kb of genomic sequence from the VWS candidate region at chromosome 1q32-q41 was analyzed for new DNA ... Full text Link to item Cite

An SSLP marker-anchored BAC framework map of the mouse genome.

Journal Article Nat Genet · October 2001 We have constructed a BAC framework map of the mouse genome consisting of 2,808 PCR-confirmed BAC clusters, using a previously described method. Fingerprints of BACs from selected clusters confirm the accuracy of the map. Combined with BAC fingerprint data ... Full text Link to item Cite

Erratum: Initial sequencing and analysis of the human genome: International Human Genome Sequencing Consortium (Nature (2001) 409 (860-921))

Journal Article Nature · August 2, 2001 Full text Cite

The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3.

Journal Article Genes Immun · May 2001 The proteases of the lectin pathway of complement activation, MASP-1 and MASP-2, are encoded by two separate genes. The MASP1 gene is located on chromosome 3q27, the MASP2 gene on chromosome 1p36.23-31. The genes for the classical complement activation pat ... Full text Link to item Cite

Comparative physical and transcript maps of approximately 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23.

Journal Article Genomics · March 1, 2001 The homozygous loop-tail (Lp) mouse has a severe neural tube closure defect, analogous to the craniorachischisis phenotype seen in humans. Linkage analysis and physical mapping have previously localized the Lp locus to a region on mouse chromosome 1 define ... Full text Link to item Cite

A physical map of the human genome.

Journal Article Nature · February 15, 2001 The human genome is by far the largest genome to be sequenced, and its size and complexity present many challenges for sequence assembly. The International Human Genome Sequencing Consortium constructed a map of the whole genome to enable the selection of ... Full text Link to item Cite

The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X.

Journal Article Nature · February 15, 2001 We constructed maps for eight chromosomes (1, 6, 9, 10, 13, 20, X and (previously) 22), representing one-third of the genome, by building landmark maps, isolating bacterial clones and assembling contigs. By this approach, we could establish the long-range ... Full text Link to item Cite

Initial sequencing and analysis of the human genome.

Journal Article Nature · February 15, 2001 The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome ... Full text Link to item Cite

Comprehensive analysis of chromosome 1p deletions in neuroblastoma.

Conference Med Pediatr Oncol · January 2001 BACKGROUND: Chromosome 1p deletions are common in advanced neuroblastomas, but the biological and clinical implications of this clonal rearrangement remain controversial. Previous studies of chromosome 1p loss of heterozygosity (LOH) have been limited by a ... Full text Link to item Cite

Report of the sixth international workshop on human chromosome 1 mapping 2000

Journal Article CYTOGENETICS AND CELL GENETICS · 2001 Link to item Cite

Construction of a human chromosome 1 physical and transcription map

Conference CYTOGENETICS AND CELL GENETICS · 2001 Link to item Cite

A BAC/PAC contig of a region of chromosome 1q42 → q43 containing a putative susceptibility gene for type 1 diabetes

Conference CYTOGENETICS AND CELL GENETICS · 2001 Link to item Cite

Characterization of 41 genes identified through the analysis of 1 Mb of sequence surrounding the Van der Woude syndrome (VWS) critical region at 1q32-q41

Conference CYTOGENETICS AND CELL GENETICS · 2001 Link to item Cite

Report and abstracts of the sixth international workshop on human chromosome 1 mapping 2000. Iowa City, Iowa, USA. 30 September-3 October 2000.

Report · 2001 Full text Link to item Cite

Detailed molecular analysis of 1p36 in neuroblastoma.

Journal Article Med Pediatr Oncol · January 2001 BACKGROUND: Several lines of evidence es tablish that chromosome band 1p36 is frequently deleted in neuroblastoma primary tumors and cell lines, suggesting that a tumor suppressor gene within this region is involved in the development of this tumor. PROCED ... Full text Link to item Cite

A 6-Mb high-resolution physical and transcription map encompassing the hereditary prostate cancer 1 (HPC1) region.

Journal Article Genomics · February 15, 2000 Several hereditary disease loci have been genetically mapped to the chromosome 1q24-q31 interval, including the hereditary prostate cancer 1 (HPC1) locus. Here, we report the construction of a 20-Mb yeast artificial chromosome contig and a high-resolution ... Full text Link to item Cite

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

Journal Article Nat Genet · February 2000 The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a regional (trunk and limbs) loss of fat occurs during the per ... Full text Link to item Cite

A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41.

Journal Article Genome Res · January 2000 Van der Woude syndrome (VWS) is a common form of syndromic cleft lip and palate and accounts for approximately 2% of all cleft lip and palate cases. Distinguishing characteristics include cleft lip with or without cleft palate, isolated cleft palate, bilat ... Link to item Cite

Fifth International Workshop on Human Chromosome 1 Mapping 1999, the Sanger Centre, Cambridge, UK, August 5-7 1999: Report

Journal Article Cytogenetics and Cell Genetics · December 1, 1999 Cite

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.

Journal Article Nat Genet · July 1999 Thiamine-responsive megaloblastic anaemia (TRMA), also known as Rogers syndrome, is an early onset, autosomal recessive disorder defined by the occurrence of megaloblastic anaemia, diabetes mellitus and sensorineural deafness, responding in varying degrees ... Full text Link to item Cite

Report of the fifth international workshop on human chromosome 1 mapping 1999.

Report · 1999 Full text Link to item Cite

Fourth International Workshop on Human Chromosome 1 Mapping 1998, Sanger Centre, Cambridge, United Kingdom, June 25-27 1998: Report

Journal Article Cytogenetics and Cell Genetics · December 1, 1998 Cite

Report of the fourth international workshop on human chromosome 1 mapping 1998.

Report · 1998 Full text Link to item Cite

Report of the fourth international workshop on human chromosome 1 mapping 1998

Journal Article CYTOGENETICS AND CELL GENETICS · January 1, 1998 Link to item Cite

Genome mapping by fluorescent fingerprinting.

Journal Article Genome Res · December 1997 The construction of sequence-ready maps of overlapping genomic clones is central to large-scale genome sequencing. We have implemented a method for fluorescent fingerprinting of bacterial clones to assemble contig maps. The method utilizes three spectrally ... Full text Link to item Cite

Third International Chromosome 1 Maping Workshop, Duke University, Durham, NC, USA, 25-27 April 1997: Report of the third international workshop on human chromosome 1 mapping 1997

Report · December 1, 1997 Cite

Mapping and sequence analysis of human chromosome 1

Conference CYTOGENETICS AND CELL GENETICS · 1997 Link to item Cite

Report and abstracts of the third international workshop on human chromosome 1 mapping 1997.

Report · 1997 Link to item Cite

An integrated YAC map of the human X chromosome.

Journal Article Genome Res · October 1996 The human X chromosome is associated with a large number of disease phenotypes, principally because of its unique mode of inheritance that tends to reveal all recessive disorders in males. With the longer term goal of identifying and characterizing most of ... Full text Link to item Cite

Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3.

Journal Article Genomics · January 1, 1996 The gene for X-linked cleft palate (CPX) has previously been mapped in an Icelandic kindred between the unordered proximal markers DXS1002/DXS349/DXS95 and the distal marker DXYS1X, which maps to the proximal end of the X-Y homology region in Xq21.3. Using ... Full text Link to item Cite

An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS.

Journal Article Eur J Hum Genet · 1996 To facilitate the positional cloning of the genes involved in retinoschisis (RS), keratosis follicularis spinulosa decalvans (KFSD), Coffin-Lowry syndrome (CLS), X-linked hypophosphatemic rickets (XLH, locus name HYP) and X-linked dominant cone-rod degener ... Full text Link to item Cite

Alu-PCR fingerprinting of YACs.

Chapter · 1996 Full text Link to item Cite

Addendum: Identification of the breast cancer susceptibility gene BRCA2 (Nature (1995) 378 (789-792))

Journal Article Nature · January 1, 1996 Full text Cite

Identification of the breast cancer susceptibility gene BRCA2.

Journal Article Nature · December 21, 1995 In Western Europe and the United States approximately 1 in 12 women develop breast cancer. A small proportion of breast cancer cases, in particular those arising at a young age, are attributable to a highly penetrant, autosomal dominant predisposition to t ... Full text Link to item Cite

A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1.

Journal Article Genomics · January 20, 1995 We describe a detailed physical map of human chromosome 11, extending from the distal part of p13 through the entirety of p14 to proximal p15.1. The primary level of mapping is based on chromosome breakpoints that divide the region into 20 intervals. At hi ... Full text Link to item Cite

An integrated physical map of 210 markers assigned to the short arm of human chromosome 11.

Journal Article Genomics · June 1994 Using a panel of patient cell lines with chromosomal breakpoints, we constructed a physical map for the short arm of human chromosome 11. We focused on 11p15, a chromosome band harboring at least 25 known genes and associated with the Beckwith-Wiedemann sy ... Full text Link to item Cite

The generation of ordered sets of cosmid DNA clones from human chromosome region 11p.

Journal Article Genomics · May 1992 We describe progress in a continuing project aimed at the generation of an overlapping cosmid DNA clone map of the short arm of human chromosome 11. The automated procedures used to prepare DNA samples and the computerized data collection and recording sys ... Full text Link to item Cite

Epigenetic Analysis of Adipose Stem Cells in Obesity Identifies Dysregulation of Critical Pathways in Musculoskeletal Regeneration and Disease.

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