How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism

The Challenge of Genetic Variants of Uncertain Clinical Significance

(2022) Wylie Burke et al.   ANNALS OF INTERNAL MEDICINE

Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel

(2021) Justyne E. Ross et al.   Blood Advances

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

(2021) Mayher J. Patel et al.   GENETICS IN MEDICINE

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

(2021) Joana R. Chora et al.   GENETICS IN MEDICINE

Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease

(2020) Biagio Cangiano et al.   HUMAN GENETICS

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

(2019) Roddy Walsh et al.   Genome Medicine

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification

(2019) Yuan Tian et al.   Scientific Reports

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

(2019) Sarah E. Brnich et al.   Genome Medicine

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

(2019) Hannah Gelman et al.   Genome Medicine

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

(2018) Melissa A Kelly et al.   GENETICS IN MEDICINE

Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism

(2018) A. Kemal Topaloğlu   Journal of Clinical Research in Pediatric Endocrinology

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

(2018) Michael H. Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

(2018) Kristy Lee et al.   HUMAN MUTATION

The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1

(2017) L.A. Lansdon et al.   JOURNAL OF DENTAL RESEARCH

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Family-Specific Variants and the Limits of Human Genetics

(2016) Brian H. Shirts et al.   TRENDS IN MOLECULAR MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

(2014) Carine Villanueva et al.   GENETICS IN MEDICINE

Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests

(2013) Timothy D. O’Connor et al.   PLoS One

Molecular Mechanisms of Fibroblast Growth Factor Signaling in Physiology and Pathology

(2013) A. A. Belov et al.   Cold Spring Harbor Perspectives in Biology

Olfactory Phenotypic Spectrum in Idiopathic Hypogonadotropic Hypogonadism: Pathophysiological and Genetic Implications

(2011) Hilana M. Lewkowitz-Shpuntoff et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Isolated GnRH deficiency: A disease model serving as a unique prism into the systems biology of the GnRH neuronal network

(2011) Ravikumar Balasubramanian et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH