Exome

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  Subject Areas on Research

  • A Genocentric Approach to Discovery of Mendelian Disorders. 
  • A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. 
  • A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence. 
  • A global reference for human genetic variation. 
  • A human laterality disorder caused by a homozygous deleterious mutation in MMP21. 
  • A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features. 
  • A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS. 
  • A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. 
  • ADA2 deficiency: Clonal lymphoproliferation in a subset of patients. 
  • ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 
  • ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 
  • Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy. 
  • 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. 
  • An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. 
  • An evaluation of copy number variation detection tools from whole-exome sequencing data. 
  • Analysis of Genetic and Non-Genetic Factors Influencing Timing and Time Perception. 
  • Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. 
  • Annotating pathogenic non-coding variants in genic regions. 
  • Are results of targeted gene sequencing ready to be used for clinical decision making for patients with acute myelogenous leukemia? 
  • Association of exome sequences with plasma C-reactive protein levels in >9000 participants. 
  • Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. 
  • BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. 
  • Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium. 
  • Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. 
  • CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 
  • CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. 
  • Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer. 
  • Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. 
  • Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing. 
  • Clinical application of exome sequencing in undiagnosed genetic conditions. 
  • Clonality analysis of multifocal papillary thyroid carcinoma by using genetic profiles. 
  • Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. 
  • Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 
  • Comprehensive molecular portraits of human breast tumours. 
  • De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 
  • De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. 
  • De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. 
  • De novo mutations in epileptic encephalopathies. 
  • De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 
  • Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. 
  • Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency. 
  • Diagnostic exome sequencing: a new paradigm in neurology. 
  • Distribution and medical impact of loss-of-function variants in the Finnish founder population. 
  • Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. 
  • EvoTol: a protein-sequence based evolutionary intolerance framework for disease-gene prioritization. 
  • Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. 
  • Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 
  • Exome Sequence Analysis of 14 Families With High Myopia. 
  • Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered. 
  • Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 
  • Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease. 
  • Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk. 
  • Exome sequence analysis of Finnish patients with clozapine-induced agranulocytosis. 
  • Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. 
  • Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia. 
  • Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. 
  • Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. 
  • Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers. 
  • Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma. 
  • Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 
  • Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. 
  • Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas. 
  • Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. 
  • Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. 
  • Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes. 
  • Exome sequencing of liver fluke-associated cholangiocarcinoma. 
  • Exome sequencing reveals recurrent REV3L mutations in cisplatin-resistant squamous cell carcinoma of head and neck. 
  • Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. 
  • Exome-wide Sequencing Shows Low Mutation Rates and Identifies Novel Mutated Genes in Seminomas. 
  • Exomes, Proteins, and Cardiovascular Disease: Making Sense of the Signals. 
  • Exomic sequencing of four rare central nervous system tumor types. 
  • First somatic mutation of E2F1 in a critical DNA binding residue discovered in well-differentiated papillary mesothelioma of the peritoneum. 
  • Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. 
  • Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. 
  • Genetic heterogeneity of diffuse large B-cell lymphoma. 
  • Genic intolerance to functional variation and the interpretation of personal genomes. 
  • Genomic Hallmarks and Structural Variation in Metastatic Prostate Cancer. 
  • Genomic landscapes of breast fibroepithelial tumors. 
  • Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 
  • Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 
  • Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. 
  • Germline mutations in shelterin complex genes are associated with familial glioma. 
  • Germline-Activating RRAS2 Mutations Cause Noonan Syndrome. 
  • Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. 
  • Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. 
  • Identification of driver genes in hepatocellular carcinoma by exome sequencing. 
  • Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation. 
  • Integrated genomic characterization of endometrial carcinoma. 
  • Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. 
  • Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer. 
  • Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 
  • Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. 
  • Leveraging prior information to detect causal variants via multi-variant regression. 
  • Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. 
  • Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. 
  • Loss of δ-catenin function in severe autism. 
  • Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. 
  • Managing incidental genomic findings: legal obligations of clinicians. 
  • Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 
  • Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits. 
  • Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. 
  • Missing genetic risk in neural tube defects: can exome sequencing yield an insight? 
  • Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. 
  • Multiregional Radiogenomic Assessment of Prostate Microenvironments with Multiparametric MR Imaging and DNA Whole-Exome Sequencing of Prostate Glands with Adenocarcinoma. 
  • Mutational landscape of candidate genes in familial prostate cancer. 
  • Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 
  • Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". 
  • Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. 
  • Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. 
  • Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 
  • Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. 
  • Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. 
  • Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. 
  • Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. 
  • Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. 
  • Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. 
  • N-Myc Drives Neuroendocrine Prostate Cancer Initiated from Human Prostate Epithelial Cells. 
  • New loci and coding variants confer risk for age-related macular degeneration in East Asians. 
  • Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders. 
  • Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. 
  • Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. 
  • Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders. 
  • Practical considerations in the clinical application of whole-exome sequencing. 
  • Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy. 
  • RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. 
  • REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. 
  • Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish. 
  • Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. 
  • Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. 
  • Reading frame correction by targeted genome editing restores dystrophin expression in cells from Duchenne muscular dystrophy patients. 
  • Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 
  • Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. 
  • Resistance mechanisms for the Bruton's tyrosine kinase inhibitor ibrutinib. 
  • SETD2 histone modifier loss in aggressive GI stromal tumours. 
  • SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. 
  • SLC25A22 is a novel gene for migrating partial seizures in infancy. 
  • SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. 
  • SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. 
  • SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. 
  • Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines. 
  • Small Cell Lung Cancer Exhibits Frequent Inactivating Mutations in the Histone Methyltransferase KMT2D/MLL2: CALGB 151111 (Alliance). 
  • Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. 
  • Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. 
  • Survey of variation in human transcription factors reveals prevalent DNA binding changes. 
  • Synaptic, transcriptional and chromatin genes disrupted in autism. 
  • Systematic reconstruction of autism biology from massive genetic mutation profiles. 
  • TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. 
  • The Genetic Basis of Hepatosplenic T-cell Lymphoma. 
  • The Increasing Importance of Gene-Based Analyses. 
  • The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome. 
  • The genetic architecture of type 2 diabetes. 
  • The genetic landscape of anaplastic astrocytoma. 
  • The genetics of neuropsychiatric diseases: looking in and beyond the exome. 
  • The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells. 
  • The importance of dynamic re-analysis in diagnostic whole exome sequencing. 
  • The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. 
  • The repertoire of mutational signatures in human cancer. 
  • The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. 
  • Trio-based exome sequencing arrests de novo mutations in early-onset high myopia. 
  • Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. 
  • Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma. 
  • Whole Exome Sequencing Reveals Severe Thrombophilia in Acute Unprovoked Idiopathic Fatal Pulmonary Embolism. 
  • Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. 
  • Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. 
  • Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. 
  • Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations. 
  • Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 
  • Whole-exome sequencing of a pedigree segregating asthma. 
  • Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1. 
  • Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways. 
  • 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. 
  • Whole-genome analysis informs breast cancer response to aromatase inhibition. 
  • Whole-genome reconstruction and mutational signatures in gastric cancer. 
  • ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 
  • ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. 
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  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • Luftig, Micah Alan, Associate Professor of Molecular Genetics and Microbiology, Immunology