16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort

Author:

Steinman Kyle J.1,Spence Sarah J.2,Ramocki Melissa B.3,Proud Monica B.4,Kessler Sudha K.5,Marco Elysa J.6,Green Snyder LeeAnne7,D'Angelo Debra8,Chen Qixuan8,Chung Wendy K.9,Sherr Elliott H.6,

Affiliation:

1. University of Washington and Seattle Children's Research Institute; Seattle Washington

2. Boston Children's Hospital; Harvard Medical School; Boston Massachusetts

3. University Otolaryngology; Providence Rhode Island

4. Baylor College of Medicine; Houston Texas

5. Children's Hospital of Philadelphia; University of Pennsylvania; Philadelphia Pennsylvania

6. University of California, San Francisco; San Francisco California

7. Clinical Research Associates; New York New York

8. Mailman School of Public Health; Columbia University; New York New York

9. Columbia University Medical Center; New York New York

Funder

Simons Foundation Autism Research Initiative (SFARI)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference46 articles.

1. FISH-mapping of a 100-kb terminal 22q13 deletion;Anderlid;Hum Genet,2002

2. Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals;Bijlsma;Eur J Med Genet,2009

3. Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder;Christian;Biol Psychiatry,2008

4. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication;Cook;Am J Hum Genet,1997

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