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Title
The causality of de novo copy number variants is overestimated
Authors
Keywords
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Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 19, Issue 11, Pages 1112-1113
Publisher
Springer Nature
Online
2011-05-18
DOI
10.1038/ejhg.2011.83
References
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Note: Only part of the references are listed.- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
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- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
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- A de novo paradigm for mental retardation
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- Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice
- (2010) Arthur L Beaudet Genome Medicine
- Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation
- (2010) Jayne Y. Hehir-Kwa et al. PLoS Computational Biology
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- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings
- (2009) M Tyreman et al. JOURNAL OF MEDICAL GENETICS
- Origins and functional impact of copy number variation in the human genome
- (2009) Donald F. Conrad et al. NATURE
- A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications
- (2008) Bernard Thienpont et al. European Journal of Medical Genetics
- Genomic microarrays in mental retardation: A practical workflow for diagnostic applications
- (2008) David A. Koolen et al. HUMAN MUTATION
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- (2008) Ignatia B. Van den Veyver et al. PRENATAL DIAGNOSIS
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