Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

(2009) BC Ballif et al.   CLINICAL GENETICS

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Contemplating effects of genomic structural variation

(2008) Janet A Buchanan et al.   GENETICS IN MEDICINE

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

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

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

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

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

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