Mutations in WDR4 as a new cause of Galloway-Mowat syndrome-Reference-Cited by-同舟云学术

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Mutations in WDR4 as a new cause of Galloway-Mowat syndrome

Published:2018-08-06 Issue:11 Volume:176 Page:2460-2465
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Braun Daniela A.¹,Shril Shirlee¹,Sinha Aditi²,Schneider Ronen¹,Tan Weizhen¹,Ashraf Shazia¹,Hermle Tobias¹,Jobst-Schwan Tilman¹,Widmeier Eugen¹,Majmundar Amar J.¹,Daga Ankana¹,Warejko Jillian K.¹,Nakayama Makiko¹,Schapiro David¹,Chen Jing¹,Airik Merlin¹,Rao Jia¹,Schmidt Johanna Magdalena¹,Hoogstraten Charlotte A.¹,Hugo Hannah¹,Meena Jitendra²,Lek Monkol³,Laricchia Kristen M.³,Bagga Arvind²,Hildebrandt Friedhelm¹^ORCID

Affiliation:

1. Department of Medicine, Boston Children's Hospital; Harvard Medical School; Boston Massachusetts

2. Division of Nephrology, Department of Pediatrics; All India Institute of Medical Sciences; New Delhi India

3. Program in Medical and Population Genetics; Broad Institute of MIT and Harvard; Cambridge Massachusetts

Funder

NIDDK

German National Academy of Sciences Leopoldina

German Research Foundation

ASN Benjamin J. Lipps Research Fellowship Award

Harvard Stem Cell Institute

Indian Council of Medical Research

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40489/fullpdf

Reference30 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

2. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families;Alazami;Cell Reports,2015

3. Two proteins that form a complex are required for 7-methylguanosine modification of yeast tRNA;Alexandrov;RNA,2002

4. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly;Braun;Nature Genetics,2017

5. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome;Colin;American Journal of Human Genetics,2014

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