Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

(2018) Amanda S. Lindy et al.   EPILEPSIA

ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

(2018) Bruce D Gelb et al.   GENETICS IN MEDICINE

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

(2018) Rebecca Truty 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

DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes

(2018) Marcy E. Richardson et al.   GENETICS IN MEDICINE

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

(2018) Ahmad N. Abou Tayoun et al.   HUMAN MUTATION

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

(2017) Steven M. Harrison et al.   GENETICS IN MEDICINE

Next-Generation Sequencing of Duplication CNVs Reveals that Most Are Tandem and Some Create Fusion Genes at Breakpoints

(2015) Scott Newman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

(2015) Jonas Juan-Mateu et al.   PLoS One

Loss of PRDM16 Is Unlikely to Cause Cardiomyopathy in 1p36 Deletion Syndrome

(2014) Nicole de Leeuw et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability

(2012) Y Qiao et al.   CLINICAL GENETICS

Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

(2010) Michelle D. Sluiter et al.   BREAST CANCER RESEARCH AND TREATMENT

Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome

(2010) Tojo Nakayama et al.   HUMAN MUTATION

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS