A5063212101- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Genetic factors in colorectal cancer
- RNA Research and Splicing
- Biomedical Text Mining and Ontologies
- RNA modifications and cancer
- Immunodeficiency and Autoimmune Disorders
- Cancer Genomics and Diagnostics
- Genomics and Chromatin Dynamics
- Genetics and Neurodevelopmental Disorders
- Cancer-related molecular mechanisms research
- CRISPR and Genetic Engineering
- Microtubule and mitosis dynamics
- Muscle Physiology and Disorders
- BRCA gene mutations in cancer
- Advanced biosensing and bioanalysis techniques
- Genetic Neurodegenerative Diseases
- Blood disorders and treatments
- Cardiomyopathy and Myosin Studies
- Genetic Associations and Epidemiology
- interferon and immune responses
- Cystic Fibrosis Research Advances
- DNA Repair Mechanisms
- DNA and Biological Computing
- Telomeres, Telomerase, and Senescence
University of North Carolina at Chapel Hill
2019-2024
Glasgow Caledonian University
2021
Duke Medical Center
2017-2020
Duke University Hospital
2017-2020
Duke University
2017-2018
Abstract Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria different types evidence. This includes the strong evidence codes PS3 BS3 “well-established” functional assays demonstrating a has abnormal or normal gene/protein function, respectively. However, they did not provide detailed guidance on how should be evaluated, differences in application PS3/BS3 are...
Heterochromatin formed by the SUV39 histone methyltransferases represses transcription from repetitive DNA sequences and ensures genomic stability. How enzymes localize to their target loci remains unclear. Here, we demonstrate that chromatin-associated RNA contributes stable association of SUV39H1 with constitutive heterochromatin in human cells. We find associated mitotic chromosomes is concentrated at pericentric heterochromatin, encoded, part, α-satellite sequences, which are retained...
ABSTRACT Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria (PS3/BS3) functional assays that specified a “strong” level evidence. However, they did not provide detailed guidance on how evidence should be evaluated, differences in the application PS3/BS3 codes is contributor to discordance between laboratories. This recommendation seeks more structured approach...
Abstract Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 ( CXCR4 ) gene. We characterize unique international cohort of 66 patients, including 57 (86%) cases previously unreported, with variable clinical phenotypes. Of 17 distinct genetic variants within our cohort, 11 were novel pathogenic affecting 15 individuals (23%). All affect same region impair...
This collaborative study, led by the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (ClinGen SCID-VCEP), implemented and adapted American College of Medical Genetics Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines interpreting germline variants in genes with established relationships to SCID. The effort focused on 7 most common SCID-related identified SCID newborn screening North America: ADA , DCLRE1C IL2RG IL7R JAK3 RAG1...
Article18 September 2020Open Access Source DataTransparent process A genetic memory initiates the epigenetic loop necessary to preserve centromere position Sebastian Hoffmann Institut Curie, CNRS, UMR 144, PSL Research University, Paris, France Search for more papers by this author Helena M Izquierdo INSERM U932, Riccardo Gamba Florian Chardon Marie Dumont Veer Keizer Solène Hervé Shannon McNulty Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC,...
The ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer (HBOP) Variant Curation Expert Panel (VCEP) is composed of internationally recognized experts in clinical genetics, molecular biology variant interpretation. This VCEP made specifications for ACMG/AMP guidelines the ataxia telangiectasia mutated (
Abstract Objective Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree phenotypic homogeneity. LGMD is defined as having onset >2 years age progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to surge genes linked LGMD. Methods The ClinGen Muscular Dystrophies Myopathies gene curation expert panel (MDM GCEP,...
Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree phenotypic homogeneity. LGMD is defined as having onset >2 years age progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to surge genes linked LGMD.
Genetic diagnosis of motile ciliopathies is conducted by healthcare, commercial and private laboratories. 88 genes have been implicated in (PCD, male infertility associated disorders). Gene-disease relationships are uncertain where evidence limited, risking inaccurate reporting diagnosis. The ClinGen Motile Ciliopathy Gene Curation Expert Panel (GCEP) was set up collaboratively with BEAT-PCD ERS CRC 2021. GCEP comprises geneticists, pulmonologists biocurators (Canada, France, Germany,...