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

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

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

(2010) Matthew G. Sampson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Obesity is associated with an increased risk of monoclonal gammopathy of undetermined significance among black and white women

(2010) O. Landgren et al.   BLOOD

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

Cognitive and Behavioral Characterization of 16p11.2 Deletion Syndrome

(2010) Ellen Hanson et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

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

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization

(2010) Stefanie Weber et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth 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

A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae

(2009) Keiko Shimojima et al.   European Journal of Medical Genetics

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

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

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

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

(2009) Elena G. Bochukova et al.   NATURE

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Novel microdeletion syndromes detected by chromosome microarrays

(2008) Anne M. Slavotinek   HUMAN GENETICS

Body-mass index and incidence of cancer: a systematic review and meta-analysis of prospective observational studies

(2008) Andrew G Renehan et al.   LANCET

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

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