KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Narrowing the critical deletion region for autism spectrum disorders on 16p11.2

(2011) An Crepel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Neuron Number and Size in Prefrontal Cortex of Children With Autism

(2011) Eric Courchesne et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Progressive Myoclonic Epilepsy-Associated Gene KCTD7 is a Regulator of Potassium Conductance in Neurons

(2011) Régis Azizieh et al.   MOLECULAR NEUROBIOLOGY

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

(2011) Sébastien Jacquemont et al.   NATURE

The histone methyltransferase SETDB1 is recurrently amplified in melanoma and accelerates its onset

(2011) Craig J. Ceol et al.   NATURE

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism

(2011) G. Horev et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

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

(2010) R. G. Walters et al.   NATURE

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

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

Comparative genomics of autism and schizophrenia

(2009) B. Crespi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

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

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

(2008) Cristen J Willer 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