Exome

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  Subject Areas on Research

  • A global reference for human genetic variation. 
  • A human laterality disorder caused by a homozygous deleterious mutation in MMP21. 
  • A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS. 
  • Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 
  • 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 of Adenosine Deaminase 2 Causes Antibody Deficiency. 
  • Distribution and medical impact of loss-of-function variants in the Finnish founder population. 
  • 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 genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk. 
  • 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 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 Sequencing Shows Low Mutation Rates and Identifies Novel Mutated Genes in Seminomas. 
  • 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 heterogeneity of diffuse large B-cell lymphoma. 
  • Genic intolerance to functional variation and the interpretation of personal genomes. 
  • 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. 
  • 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. 
  • Integrated genomic characterization of endometrial carcinoma. 
  • Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer. 
  • 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. 
  • 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? 
  • Multiregional Radiogenomic Assessment of Prostate Microenvironments with Multiparametric MR Imaging and DNA Whole-Exome Sequencing of Prostate Glands with Adenocarcinoma. 
  • Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 
  • 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 of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. 
  • New loci and coding variants confer risk for age-related macular degeneration in East Asians. 
  • Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. 
  • Practical considerations in the clinical application of whole-exome sequencing. 
  • RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. 
  • Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish. 
  • 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. 
  • 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. 
  • Survey of variation in human transcription factors reveals prevalent DNA binding changes. 
  • Synaptic, transcriptional and chromatin genes disrupted in autism. 
  • 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 kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. 
  • The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. 
  • 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 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 breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1. 
  • 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. 
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  Keywords of People

  • Berchuck, Andrew, James M. Ingram 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, Molecular Genetics and Microbiology