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Subject Areas on Research
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A Genocentric Approach to Discovery of Mendelian Disorders.
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A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
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A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence.
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A global reference for human genetic variation.
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A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.
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A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
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ADA2 deficiency: Clonal lymphoproliferation in a subset of patients.
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ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
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Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.
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Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise.
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An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.
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An evaluation of copy number variation detection tools from whole-exome sequencing data.
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Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
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Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load.
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Association of exome sequences with plasma C-reactive protein levels in >9000 participants.
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Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium.
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CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
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CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.
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Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer.
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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.
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Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.
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Clinical application of exome sequencing in undiagnosed genetic conditions.
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Clonality analysis of multifocal papillary thyroid carcinoma by using genetic profiles.
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Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.
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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
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Comprehensive molecular portraits of human breast tumours.
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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
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De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
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De novo mutations in epileptic encephalopathies.
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De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
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Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
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Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency.
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Distribution and medical impact of loss-of-function variants in the Finnish founder population.
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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
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Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.
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Exome Sequence Analysis of 14 Families With High Myopia.
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Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.
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Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
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Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.
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Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.
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Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.
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Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.
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Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers.
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Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.
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Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
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Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.
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Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas.
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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
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Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes.
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Exome sequencing of liver fluke-associated cholangiocarcinoma.
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Exome sequencing reveals recurrent REV3L mutations in cisplatin-resistant squamous cell carcinoma of head and neck.
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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
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Exome-wide Sequencing Shows Low Mutation Rates and Identifies Novel Mutated Genes in Seminomas.
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Exomes, Proteins, and Cardiovascular Disease: Making Sense of the Signals.
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Exomic sequencing of four rare central nervous system tumor types.
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First somatic mutation of E2F1 in a critical DNA binding residue discovered in well-differentiated papillary mesothelioma of the peritoneum.
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Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma.
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Genetic heterogeneity of diffuse large B-cell lymphoma.
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Genic intolerance to functional variation and the interpretation of personal genomes.
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Genomic Hallmarks and Structural Variation in Metastatic Prostate Cancer.
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Genomic landscapes of breast fibroepithelial tumors.
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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
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Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
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Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study.
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Germline mutations in shelterin complex genes are associated with familial glioma.
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Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
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Identification of driver genes in hepatocellular carcinoma by exome sequencing.
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Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.
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Incorporating external information to improve sparse signal detection in rare-variant gene-set-based analyses.
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Integrated genomic characterization of endometrial carcinoma.
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Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.
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Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer.
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Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases.
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Leveraging prior information to detect causal variants via multi-variant regression.
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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
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Low-Dose Irradiation Enhances Gene Targeting in Human Pluripotent Stem Cells.
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Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.
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Managing incidental genomic findings: legal obligations of clinicians.
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Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.
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Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.
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Missing genetic risk in neural tube defects: can exome sequencing yield an insight?
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Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.
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Multiregional Radiogenomic Assessment of Prostate Microenvironments with Multiparametric MR Imaging and DNA Whole-Exome Sequencing of Prostate Glands with Adenocarcinoma.
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Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
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Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
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Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS.
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Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.
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N-Myc Drives Neuroendocrine Prostate Cancer Initiated from Human Prostate Epithelial Cells.
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New loci and coding variants confer risk for age-related macular degeneration in East Asians.
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Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.
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Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
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Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals.
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Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.
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Practical considerations in the clinical application of whole-exome sequencing.
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Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish.
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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
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Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.
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Reading frame correction by targeted genome editing restores dystrophin expression in cells from Duchenne muscular dystrophy patients.
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Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.
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Resistance mechanisms for the Bruton's tyrosine kinase inhibitor ibrutinib.
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SETD2 histone modifier loss in aggressive GI stromal tumours.
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SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.
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SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
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Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines.
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Small Cell Lung Cancer Exhibits Frequent Inactivating Mutations in the Histone Methyltransferase KMT2D/MLL2: CALGB 151111 (Alliance).
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Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
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Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.
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Survey of variation in human transcription factors reveals prevalent DNA binding changes.
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Synaptic, transcriptional and chromatin genes disrupted in autism.
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The Genetic Basis of Hepatosplenic T-cell Lymphoma.
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The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome.
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The genetic architecture of type 2 diabetes.
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The genetic landscape of anaplastic astrocytoma.
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The genetics of neuropsychiatric diseases: looking in and beyond the exome.
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The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells.
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The importance of dynamic re-analysis in diagnostic whole exome sequencing.
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The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.
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Trio-based exome sequencing arrests de novo mutations in early-onset high myopia.
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Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
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Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.
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Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.
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Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations.
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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
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Whole-exome sequencing of a pedigree segregating asthma.
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Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1.
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Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways.
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Whole-exome sequencing studies of parathyroid carcinomas reveal novel PRUNE2 mutations, distinctive mutational spectra related to APOBEC-catalyzed DNA mutagenesis and mutational enrichment in kinases associated with cell migration and invasion.
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Whole-genome analysis informs breast cancer response to aromatase inhibition.
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Whole-genome reconstruction and mutational signatures in gastric cancer.
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Keywords of People
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Berchuck, Andrew,
James M. Ingram Distinguished Professor of Gynecologic Oncology,
Obstetrics and Gynecology, Gynecologic Oncology
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Liu, Yutao,
Adjunct Assistant Professor in the Department of Medicine,
Medicine, Medical Genetics
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Luftig, Micah Alan,
Associate Professor of Molecular Genetics and Microbiology,
Immunology