Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders-Reference-Cited by-同舟云学术

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders

Published:2015-06-25 Issue:11 Volume:167 Page:2548-2554
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Nesbitt Addie¹,Bhoj Elizabeth J.²,McDonald Gibson Kristin¹,Yu Zhenming¹,Denenberg Elizabeth¹,Sarmady Mahdi¹,Tischler Tanya¹,Cao Kajia¹,Dubbs Holly³,Zackai Elaine H.²,Santani Avni⁴¹

Affiliation:

1. Division of Genomic Diagnostics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

2. Division of Genetics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

3. Division of Human Genetics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

4. Department of Pathology and Laboratory Medicine; Molecular Genetics Laboratory; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. An integrated map of genetic variation from 1,092 human genomes;Abecasis;Nature,2012

2. http://exac.broadinstitute.org 2015

3. Mutations in SOX2 cause anophthalmia;Fantes;Nat Genet,2003

4. Distinct roles of Sox5, Sox6, and Sox9 in different stages of chondrogenic differentiation;Ikeda;J Bone Miner Metab,2005

5. Identification and characterization of the human long form of Sox5 (L-SOX5) gene;Ikeda;Gene,2002

Cited by 28 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China;Orphanet Journal of Rare Diseases;2024-07-29

2. SOX5 Attenuates Toxicity in Neural Stem Cells Induced by Sevoflurane Anesthesia via Regulating the PI3K/AKT Pathway;Neurochemical Journal;2024-03

3. Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency;Clinical Genetics;2023-09-13

4. Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program;Clinical Genetics;2023-06-19

5. A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report;Egyptian Journal of Medical Human Genetics;2023-04-21