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

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

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis

(2010) Anne-Claude Tabet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

(2010) Catalina Betancur   BRAIN RESEARCH

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

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

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

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

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

(2009) Jill A. Rosenfeld et al.   Journal of Neurodevelopmental Disorders

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

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE 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