16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

(2012) Anne-Claude Tabet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Duplication of the STS region in males is a benign copy-number variant

(2011) Aubry Furrow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?

(2011) Daniela Q.C.M. Barge-Schaapveld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Assessment of palindromes as platforms for DNA amplification in breast cancer

(2011) J. Guenthoer et al.   GENOME RESEARCH

Investigation of modifier genes within copy number variations in Rett syndrome

(2011) Rosangela Artuso et al.   JOURNAL OF HUMAN GENETICS

Determination of Beta-Defensin Genomic Copy Number in Different Populations: A Comparison of Three Methods

(2011) Peder Fode et al.   PLoS One

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

(2010) Feng Li et al.   European Journal of Medical Genetics

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

(2010) Ruxandra Bachmann-Gagescu et al.   GENETICS IN MEDICINE

Phenotypic variability and genetic susceptibility to genomic disorders

(2010) S. Girirajan et al.   HUMAN MOLECULAR GENETICS

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

(2010) R. G. Walters et al.   NATURE

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

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

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

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

Further characterization of the new microdeletion syndrome of 16p11.2-p12.2

(2009) Agatino Battaglia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization

(2009) Maja Hempel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Benign copy number changes in clinical cytogenetic diagnostics by array CGH

(2009) H. Whitby et al.   CYTOGENETIC AND GENOME RESEARCH

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

(2009) E.K. Bijlsma et al.   European Journal of Medical Genetics

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism

(2008) Farkhondeh Behjati et al.   European Journal of Medical Genetics

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

First prenatally diagnosed case of 16p11.2p12.1 duplication

(2008) S. Bourthoumieu et al.   PRENATAL DIAGNOSIS