Longitudinal report of child with de novo 16p11.2 triplication-Reference-Cited by-同舟云学术

Longitudinal report of child with de novo 16p11.2 triplication

Published:2017-12-06 Issue:1 Volume:6 Page:147-154
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Wallace Arianne S.¹^ORCID,Hudac Caitlin M.¹^ORCID,Steinman Kyle J.²³^ORCID,Peterson Jessica L.¹,DesChamps Trent D.¹,Duyzend Michael H.⁴^ORCID,Nuttle Xander⁴,Eichler Evan E.⁴⁵^ORCID,Bernier Raphael A.¹⁶^ORCID

Affiliation:

1. Department of Psychiatry and Behavioral Sciences; University of Washington; Seattle Washington 98195

2. Department of Neurology; University of Washington School of Medicine; Seattle Washington 98195

3. Center for Integrative Brain Research; Seattle Children's Autism Center; Seattle Washington 98145

4. Department of Genome Sciences; University of Washington School of Medicine; Seattle Washington 98195

5. Howard Hughes Medical Institute; Seattle Washington 98195

6. Center for Child Health, Behavior, and Development; Seattle Children's Autism Center; Seattle Washington 98145

Funder

Simons Foundation Autism Research Initiative

Publisher

Wiley

Subject

General Medicine

Reference28 articles.

1. 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

2. Comparative genomics of autism and schizophrenia;Crespi;Proc. Natl. Acad. Sci. U. S. A.,2010

3. Microduplications of 16p11.2 are associated with schizophrenia;McCarthy;Nat. Genet.,2009

4. Recurrent reciprocal 16p.11.2 rearrangements associated with global developmental delay, behavioral problems, dysmorphism, epilepsy, and abnormal head size;Shinawi;J. Med. Genet.,2010

5. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus;Jacquemont;Nature,2011

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1. The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents;Croatian Medical Journal;2023-10

2. Keeping the balance: Trade-offs between human brain evolution, autism, and schizophrenia;Frontiers in Genetics;2022-11-21

3. Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication;Cytogenetic and Genome Research;2022

4. Genetic etiologies of autism: Unpacking pathogenic mechanisms and characteristics;The Neuroscience of Autism;2022

5. 16p11.2 Copy Number Variations and Neurodevelopmental Disorders;Trends in Neurosciences;2020-11