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

[1]  W. Foulkes,et al.  The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer , 2020, BMC Cancer.

[2]  M. Tekin,et al.  Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida , 2020, Genes.

[3]  Marina T. DiStefano,et al.  Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion , 2018, Human mutation.

[4]  Sara B. Willett,et al.  DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes , 2018, Genetics in Medicine.

[5]  Joshua S. Paul,et al.  Prevalence and properties of intragenic copy-number variation in Mendelian disease genes , 2018, Genetics in Medicine.

[6]  Amanda S. Lindy,et al.  Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders , 2018, Epilepsia.

[7]  Mitchell W Dillon,et al.  ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation , 2018, Genetics in Medicine.

[8]  Birgit Funke,et al.  Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel , 2018, Genetics in Medicine.

[9]  Soma Das,et al.  Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar , 2017, Genetics in Medicine.

[10]  M. Schmid,et al.  ISCN 2016: An International System for Human Cytogenomic Nomenclature (2016) , 2016 .

[11]  M. Baiget,et al.  DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations , 2015, PloS one.

[12]  Bale,et al.  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, Genetics in Medicine.

[13]  M. K. Rudd,et al.  Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. , 2015, American journal of human genetics.

[14]  N. de Leeuw,et al.  Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome. , 2014, American journal of human genetics.

[15]  Lars Feuk,et al.  The Database of Genomic Variants: a curated collection of structural variation in the human genome , 2013, Nucleic Acids Res..

[16]  E. Rajcan-Separovic,et al.  Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability , 2013, Clinical genetics.

[17]  K. Yamakawa,et al.  Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome , 2010, Human mutation.

[18]  Manuel Corpas,et al.  DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. , 2009, American journal of human genetics.

[19]  J. Haines,et al.  Isolation of a novel gene underlying batten disease, CLN3 , 1995, Cell.

[20]  H Sugita,et al.  Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. , 1991, American journal of human genetics.

[21]  L. Maquat,et al.  Unstable β-globin mRNA in mRNA-deficient β 0 thalassemia , 1981, Cell.

[22]  R. Losson,et al.  Interference of nonsense mutations with eukaryotic messenger RNA stability. , 1979, Proceedings of the National Academy of Sciences of the United States of America.

[23]  E. V. Rensburg,et al.  Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation , 2010, Breast Cancer Research and Treatment.

[24]  Z. Deans,et al.  Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene , 2008, European Journal of Human Genetics.