Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

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

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

(2018) Taylor L. Mighell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

(2018) Sean V Tavtigian et al.   GENETICS IN MEDICINE

ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

(2018) Bruce D Gelb et al.   GENETICS IN 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

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

(2018) Natasha T. Strande et al.   GENETICS IN MEDICINE

Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria

(2018) Nastassja Himmelreich et al.   MOLECULAR GENETICS AND METABOLISM

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks

(2018) Sarah E. Brnich et al.   HUMAN MUTATION

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

(2018) Edgar A. Rivera-Muñoz et al.   HUMAN MUTATION

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

(2018) Jessica L. Mester et al.   HUMAN MUTATION

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

(2018) Diane B. Zastrow et al.   HUMAN MUTATION

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

(2018) Kristy Lee et al.   HUMAN MUTATION

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

(2018) Andrea M. Oza et al.   HUMAN MUTATION

ECO, the Evidence & Conclusion Ontology: community standard for evidence information

(2018) Michelle Giglio et al.   NUCLEIC ACIDS RESEARCH

The Gene Ontology Resource: 20 years and still GOing strong

(2018)   NUCLEIC ACIDS RESEARCH

Structural, Functional, and Clinical Characterization of a NovelPTPN11Mutation Cluster Underlying Noonan Syndrome

(2017) Luca Pannone et al.   HUMAN MUTATION

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome

(2017) Hannah Jinlian Chen et al.   HUMAN MUTATION

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU

(2016) Roberta Trunzo et al.   GENE

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

(2016) Christopher J. Mungall et al.   NUCLEIC ACIDS RESEARCH

Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2

(2016) Ying Chen et al.   Scientific Reports

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

Mapping the functional landscape of frequentphenylalanine hydroxylase(PAH) genotypes promotes personalised medicine in phenylketonuria

(2015) Marta K Danecka et al.   JOURNAL OF MEDICAL GENETICS

A Functional Dissection of PTEN N-Terminus: Implications in PTEN Subcellular Targeting and Tumor Suppressor Activity

(2015) Anabel Gil et al.   PLoS One

Identification of Novel Functional Null Allele of SLC26A4 Associated with Enlarged Vestibular Aqueduct and Its Possible Implication

(2014) Jeong Hun Jang et al.   AUDIOLOGY AND NEURO-OTOLOGY

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population

(2014) Ying Liang et al.   JOURNAL OF HUMAN GENETICS

Next-generation sequencing identifies rare variants associated with Noonan syndrome

(2014) P.-C. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evolving BioAssay Ontology (BAO): modularization, integration and applications

(2014) Saminda Abeyruwan et al.   Journal of Biomedical Semantics

Analysis of Trafficking, Stability and Function of Human Connexin 26 Gap Junction Channels with Deafness-Causing Mutations in the Fourth Transmembrane Helix

(2013) Cinzia Ambrosi et al.   PLoS One

NMR-based functional profiling of RASopathies and oncogenic RAS mutations

(2013) M. J. Smith et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Counteracting Effects Operating on Src Homology 2 Domain-containing Protein-tyrosine Phosphatase 2 (SHP2) Function Drive Selection of the Recurrent Y62D and Y63C Substitutions in Noonan Syndrome

(2012) Simone Martinelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Increased BRAF Heterodimerization Is the Common Pathogenic Mechanism for Noonan Syndrome-Associated RAF1 Mutants

(2012) X. Wu et al.   MOLECULAR AND CELLULAR BIOLOGY

Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss

(2012) Valentina Cirello et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China

(2012) Yongyi Yuan et al.   PLoS One

Formalization, Annotation and Analysis of Diverse Drug and Probe Screening Assay Datasets Using the BioAssay Ontology (BAO)

(2012) Uma D. Vempati et al.   PLoS One

Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium

(2011) Monica Cerreto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Analysis of Cellular Localization and Function of Carboxy-Terminal Mutants of Pendrin

(2011) Aigerim Bizhanova et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Pendrin Function and Regulation in Xenopus Oocytes

(2011) Fabian R. Reimold et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Identification of Allelic Variants of Pendrin (SLC26A4) with Loss and Gain of Function

(2011) Silvia Dossena et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Functional Characterization of Pendrin Mutations Found in the Israeli and Palestinian Populations

(2011) Silvia Dossena et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy

(2011) Marina Di Domenico et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes

(2011) Beom Hee Lee et al.   JOURNAL OF PEDIATRICS

Establishment of a Knock-In Mouse Model with the SLC26A4 c.919-2A>G Mutation and Characterization of Its Pathology

(2011) Ying-Chang Lu et al.   PLoS One

A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands

(2010) Min-Han Tan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations

(2010) Katherine A. Rauen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Salicylate restores transport function and anion exchanger activity of missense pendrin mutations

(2010) Kenji Ishihara et al.   HEARING RESEARCH

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders

(2010) Lothar Gremer et al.   HUMAN MUTATION

Hypo-FunctionalSLC26A4variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?

(2009) Byung Yoon Choi et al.   HUMAN MUTATION

Intercellular Junction Assembly, Dynamics, and Homeostasis

(2009) K. J. Green et al.   Cold Spring Harbor Perspectives in Biology

Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions

(2008) Po-yi Ho et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

AmiGO: online access to ontology and annotation data

(2008) Seth Carbon et al.   BIOINFORMATICS

Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss

(2008) Ram Shankar Mani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Homomeric and Heteromeric Assembly of KCNQ (Kv7) K+Channels Assayed by Total Internal Reflection Fluorescence/Fluorescence Resonance Energy Transfer and Patch Clamp Analysis

(2008) Manjot Bal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Connexin Mutations Causing Skin Disease and Deafness Increase Hemichannel Activity and Cell Death when Expressed in Xenopus Oocytes

(2008) Jack R. Lee et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-l-cysteine

(2008) Glyn B. Steventon et al.   MOLECULAR GENETICS AND METABOLISM

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

(2008) A. Pera et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutation analysis in Costello syndrome: functional and structural characterization of theHRASp.Lys117Arg mutation

(2007) Ellen Denayer et al.   HUMAN MUTATION

Pendred Syndrome in Two Galician Families: Insights into Clinical Phenotypes through Cellular, Genetic, and Molecular Studies

(2007) Fernando Palos et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM