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

[1]  Lisa T. Emrick,et al.  Identification of novel candidate disease genes from de novo exonic copy number variants , 2017, Genome Medicine.

[2]  J. Clayton-Smith,et al.  CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing , 2017, Journal of Medical Genetics.

[3]  Keith Nykamp,et al.  Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria , 2017, Genetics in Medicine.

[4]  Li Zhao,et al.  SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data , 2017, BMC Bioinformatics.

[5]  W. Chung,et al.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics , 2016, Genetics in Medicine.

[6]  Joshua L. Deignan,et al.  A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories , 2016, Genetics in Medicine.

[7]  L. Vissers,et al.  Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders , 2016, Genetics in Medicine.

[8]  T. Pal,et al.  BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer , 2016 .

[9]  M. Swertz,et al.  CoNVaDING: Single Exon Variation Detection in Targeted NGS Data , 2016, Human mutation.

[10]  Matthew S. Lebo,et al.  Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies , 2015, Molecular genetics & genomic medicine.

[11]  Ricardo Villamarín-Salomón,et al.  ClinVar: public archive of interpretations of clinically relevant variants , 2015, Nucleic Acids Res..

[12]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[13]  Gabor T. Marth,et al.  An integrated map of structural variation in 2,504 human genomes , 2015, Nature.

[14]  Sarah M. Hartz,et al.  Identification of Medically Actionable Secondary Findings in the 1000 Genomes , 2015, PloS one.

[15]  Yuya Kobayashi,et al.  A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and 77 78 79 80 81 82 Ovarian Cancer Genes in More Than 1000 Patients , 2015 .

[16]  S. Bale,et al.  Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort , 2014, Genetics in Medicine.

[17]  R. Pfundt,et al.  Exome sequencing and whole genome sequencing for the detection of copy number variation , 2015, Expert review of molecular diagnostics.

[18]  D. Ledbetter,et al.  Copy number variants, aneuploidies, and human disease. , 2015, Clinics in perinatology.

[19]  H. Rehm,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.

[20]  J. R. MacDonald,et al.  A copy number variation map of the human genome , 2015, Nature Reviews Genetics.

[21]  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.

[22]  Yuya Kobayashi,et al.  Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. , 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[23]  Marc S. Williams,et al.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.

[24]  Bradley P. Coe,et al.  Estimates of penetrance for recurrent pathogenic copy-number variations , 2012, Genetics in Medicine.

[25]  E. Rosenthal,et al.  Clinical significance of large rearrangements in BRCA1 and BRCA2 , 2012, Cancer.

[26]  S. Aradhya,et al.  Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders , 2012, Genetics in Medicine.

[27]  L. Vissers,et al.  Microdeletion and microduplication syndromes. , 2012, Methods in molecular biology.

[28]  Kenny Q. Ye,et al.  Mapping copy number variation by population scale genome sequencing , 2010, Nature.

[29]  G. Tomlinson,et al.  Evidence for Common Ancestral Origin of a Recurring BRCA1 Genomic Rearrangement Identified in High-Risk Hispanic Families , 2007, Cancer Epidemiology Biomarkers & Prevention.

[30]  R. Andrews,et al.  Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. , 2005, American journal of human genetics.

[31]  M. Beckmann,et al.  The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group. , 2000, American journal of human genetics.

[32]  Charles E. Kahn,et al.  von Hippel-Lindau syndrome , 1995 .