A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2

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

(2012) John C K Barber et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

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

(2010) Santhosh Girirajan et al.   NATURE 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

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

(2009) B. A. Fernandez et al.   JOURNAL OF MEDICAL GENETICS

Large, rare chromosomal deletions associated with severe early-onset obesity

(2009) Elena G. Bochukova et al.   NATURE

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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