Literature DB >> 31491411

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Oguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, Chirag Patel, Stephen R Braddock, Anne M Slavotinek, Julie S Cohen, Cynthia S Gubbels, Kimberly A Aldinger, Judy Williams, Maanasa Indaram, Ali Fatemi, Timothy W Yu, Pankaj B Agrawal, Gilbert Vezina, Cas Simons, Joanna Crawford, C Christopher Lau, Wendy K Chung, Thomas C Markello, William B Dobyns, David R Adams, William A Gahl, Michael F Wangler, Shinya Yamamoto, Hugo J Bellen, May Christine V Malicdan.   

Abstract

Entities:  

Year:  2019        PMID： 31491411      PMCID： PMC6732524          DOI： 10.1016/j.ajhg.2019.07.017

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  4 in total

1.  An expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR-mediated homologous recombination.

Authors:  Oguz Kanca; Jonathan Zirin; Yanhui Hu; Burak Tepe; Debdeep Dutta; Wen-Wen Lin; Liwen Ma; Ming Ge; Zhongyuan Zuo; Lu-Ping Liu; Robert W Levis; Norbert Perrimon; Hugo J Bellen
Journal:  Elife       Date:  2022-06-20       Impact factor: 8.713

2.  In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila.

Authors:  J Michael Harnish; Samantha L Deal; Hsiao-Tuan Chao; Michael F Wangler; Shinya Yamamoto
Journal:  J Vis Exp       Date:  2019-08-20       Impact factor: 1.355

3.  De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.

Authors:  Hyung-Lok Chung; Xiao Mao; Hua Wang; Ye-Jin Park; Paul C Marcogliese; Jill A Rosenfeld; Lindsay C Burrage; Pengfei Liu; David R Murdock; Shinya Yamamoto; Michael F Wangler; Hsiao-Tuan Chao; Hongyu Long; Li Feng; Carlos A Bacino; Hugo J Bellen; Bo Xiao
Journal:  Am J Hum Genet       Date:  2020-04-23       Impact factor: 11.025

Review 4.  A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.

Authors:  Shruti Marwaha; Joshua W Knowles; Euan A Ashley
Journal:  Genome Med       Date:  2022-02-28       Impact factor: 15.266
  4 in total

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