Literature DB >> 33667397

Rare and de novo coding variants in chromodomain genes in Chiari I malformation.

Brooke Sadler, Jackson Wilborn, Lilian Antunes, Timothy Kuensting, Andrew T Hale, Stephen R Gannon, Kevin McCall, Carlos Cruchaga, Matthew Harms, Norine Voisin, Alexandre Reymond, Gerarda Cappuccio, Nicola Brunetti-Pierri, Marco Tartaglia, Marcello Niceta, Chiara Leoni, Giuseppe Zampino, Allison Ashley-Koch, Aintzane Urbizu, Melanie E Garrett, Karen Soldano, Alfons Macaya, Donald Conrad, Jennifer Strahle, Matthew B Dobbs, Tychele N Turner, Chevis N Shannon, Douglas Brockmeyer, David D Limbrick, Christina A Gurnett, Gabe Haller.   

Abstract

Year:  2021        PMID: 33667397      PMCID: PMC8008482          DOI: 10.1016/j.ajhg.2021.01.014

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


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  2 in total

1.  Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation.

Authors:  Zhenlei Liu; Huakang Du; Hengqiang Zhao; Siyi Cai; Sen Zhao; Yuchen Niu; Xiaoxin Li; Bowen Liu; Yingzhao Huang; Jiashen Shao; Lian Liu; Ye Tian; Zhihong Wu; Hao Wu; Yue Hu; Terry Jianguo Zhang; Fengzeng Jian; Nan Wu
Journal:  Hum Genet       Date:  2022-09-13       Impact factor: 5.881

2.  Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8.

Authors:  Diane Doummar; Marco Treven; Leila Qebibo; David Devos; Jamal Ghoumid; Claudia Ravelli; Gottfried Kranz; Martin Krenn; Diane Demailly; Laura Cif; Jean-Baptiste Davion; Fritz Zimprich; Lydie Burglen; Michael Zech
Journal:  Ann Clin Transl Neurol       Date:  2021-08-20       Impact factor: 4.511

  2 in total

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