Novel loss-of-function variants inDIAPH1associated with syndromic microcephaly, blindness, and early onset seizures-Reference-Cited by-同舟云学术

Novel loss-of-function variants inDIAPH1associated with syndromic microcephaly, blindness, and early onset seizures

Published:2015-10-13 Issue:2 Volume:170 Page:435-440
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Al-Maawali Almundher¹²³⁴,Barry Brenda J.¹²³,Rajab Anna⁵,El-Quessny Malak¹²,Seman Ann¹,Coury Stephanie Newton¹,Barkovich A. James⁶,Yang Edward⁷⁸,Walsh Christopher A.¹²³⁹¹⁰,Mochida Ganeshwaran H.¹²⁹¹¹,Stoler Joan M.¹⁹

Affiliation:

1. Division of Genetics and Genomics; Department of Medicine; Boston Children's Hospital; Boston Massachusetts

2. Manton Center for Orphan Disease Research; Boston Children's Hospital; Boston Massachusetts

3. Howard Hughes Medical Institute; Boston Children's Hospital; Boston Massachusetts

4. Department of Genetics; College of Medicine and Health Sciences; Sultan Qaboos University; Muscat Oman

5. National Genetics Center; Directorate General of Health Affairs; Ministry of Health; Muscat Oman

6. Department of Radiology and Biomedical Imaging; University of California; San Francisco California

7. Department of Radiology; Boston Children's Hospital; Boston Massachusetts

8. Department of Radiology; Harvard Medical School; Boston Massachusetts

9. Department of Pediatrics; Harvard Medical School; Boston Massachusetts

10. Department of Neurology; Harvard Medical School; Boston Massachusetts. Program in Biological and Biomedical Sciences; Harvard Medical School; Boston Massachusetts

11. Pediatric Neurology Unit; Department of Neurology; Massachusetts General Hospital; Boston Massachusetts

Funder

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37422/fullpdf

Reference7 articles.

1. Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration;Bai;BMC Biol,2011

2. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans;Ercan-Sencicek;Eur Journal Hum Genet,2015