Pathogenic or not? Assessing the clinical relevance of copy number variants

Deletion 16p13.11 uncoversNDE1mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

(2013) Alex R. Paciorkowski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

X-Inactivation, Imprinting, and Long Noncoding RNAs in Health and Disease

(2013) Jeannie T. Lee et al.   CELL

CNVs of noncoding cis-regulatory elements in human disease

(2013) Malte Spielmann et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

263.4 kb deletion within the TCF4 gene consistent with Pitt–Hopkins syndrome, inherited from a mosaic parent with normal phenotype

(2013) Ludmila Kousoulidou et al.   European Journal of Medical Genetics

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

(2013) P. Dittwald et al.   GENOME RESEARCH

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

(2013) P. M. Boone et al.   GENOME RESEARCH

Global increases in both common and rare copy number load associated with autism

(2013) Santhosh Girirajan et al.   HUMAN MOLECULAR GENETICS

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

(2012) Marjolijn C.J. Jongmans et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

(2012) David A Koolen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants

(2012) M. Isrie et al.   European Journal of Medical Genetics

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies

(2012) Marjolein H. Willemsen et al.   European Journal of Medical Genetics

Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis

(2012) Piotr Dittwald et al.   HUMAN MUTATION

Diagnostic interpretation of array data using public databases and internet sources

(2012) Nicole de Leeuw et al.   HUMAN MUTATION

Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime

(2012) Lars Anders Forsberg et al.   JOURNAL OF MEDICAL GENETICS

Characterisation of two deletions involving NPC1 and flanking genes in Niemann–Pick Type C disease patients

(2012) Laura Rodríguez-Pascau et al.   MOLECULAR GENETICS AND METABOLISM

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

(2012) Cornelis A Albers et al.   NATURE GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Common structural features characterize interstitial intrachromosomal Xp and 18q triplications

(2011) Roberto Giorda et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pitfalls in the use of DGV for CNV interpretation

(2011) Aude Duclos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes

(2011) J Demars et al.   CLINICAL GENETICS

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

(2011) Nicolien M Hanemaaijer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The causality of de novo copy number variants is overestimated

(2011) Joris R Vermeesch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

(2011) Beata A Nowakowska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH

(2011) N. J. Neill et al.   GENOME RESEARCH

Retracted: Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ ofGRIA3is associated withGRIA3silencing and X-linked intellectual disability

(2011) Céline Bonnet et al.   HUMAN MUTATION

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Ensembl 2012

(2011) P. Flicek et al.   NUCLEIC ACIDS RESEARCH

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

(2011) Julia Hoefele et al.   PEDIATRIC NEPHROLOGY

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

(2011) Santhosh Girirajan et al.   PLoS Genetics

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis

(2010) Eva Klopocki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication

(2010) Juliette Piard et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prader-Willi syndrome and Angelman syndrome

(2010) Karin Buiting   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

(2010) Laura K. Conlin et al.   HUMAN MOLECULAR GENETICS

Public data archives for genomic structural variation

(2010) Deanna M Church et al.   NATURE GENETICS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

(2010) Jayne Y. Hehir-Kwa et al.   PLoS Computational Biology

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

The Role of DNA Copy Number Variation in Schizophrenia

(2009) Gloria W.C. Tam et al.   BIOLOGICAL PSYCHIATRY

Duplication hotspots, rare genomic disorders, and common disease

(2009) Heather C Mefford et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

(2009) Antoinet CJ Gijsbers et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience

(2009) Karen Buysse et al.   European Journal of Medical Genetics

Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

(2009) Ron Hochstenbach et al.   European Journal of Medical Genetics

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

(2009) Gurdeep S Sagoo et al.   GENETICS IN MEDICINE

A novel heterozygous deletion within the 3’ region of the PAX6 gene causing isolated aniridia in a large family group

(2009) Fatih Bayrakli et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

(2009) L. E. L. M. Vissers et al.   JOURNAL OF MEDICAL GENETICS

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

(2009) J Knijnenburg et al.   JOURNAL OF MEDICAL GENETICS

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

(2009) Jill A. Rosenfeld et al.   Journal of Neurodevelopmental Disorders

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

(2008) David A. Koolen et al.   HUMAN MUTATION

Hereditary Spastic Paraplegia-Associated Mutations in the NIPA1 Gene and Its Caenorhabditis elegans Homolog Trigger Neural Degeneration In Vitro and In Vivo through a Gain-of-Function Mechanism

(2008) J. Zhao et al.   JOURNAL OF NEUROSCIENCE

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE