De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations-Reference-Cited by-同舟云学术

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Published:2022-09 Issue:9 Volume:24 Page:1952-1966
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Dias Kerith-Rae^ORCID,Carlston Colleen M.,Blok Laura E.R.,De Hayr Lachlan,Nawaz Urwah,Evans Carey-Anne,Bayrak-Toydemir Pinar,Htun Stephanie,Zhu Ying,Ma Alan,Lynch Sally Ann,Moorwood Catherine,Stals Karen,Ellard Sian,Bainbridge Matthew N.,Friedman Jennifer,Pappas John G.,Rabin Rachel,Nowak Catherine B.,Douglas Jessica,Wilson Theodore E.,Guillen Sacoto Maria J.,Mullegama Sureni V.,Palculict Timothy Blake,Kirk Edwin P.,Pinner Jason R.,Edwards Matthew,Montanari Francesca,Graziano Claudio,Pippucci Tommaso,Dingmann Bri,Glass Ian,Mefford Heather C.,Shimoji Takeyoshi,Suzuki Toshimitsu,Yamakawa Kazuhiro,Streff Haley,Schaaf Christian P.,Slavotinek Anne M.,Voineagu Irina,Carey John C.,Buckley Michael F.,Schenck Annette,Harvey Robert J.,Roscioli Tony^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

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5. ZMYND8 co-localizes with NuRD on target genes and regulates poly(ADP-ribose)-dependent recruitment of GATAD2A/NuRD to sites of DNA damage;Spruijt;Cell Rep,2016

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1. Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder;2024-08-08

2. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay;American Journal of Medical Genetics Part A;2024-02-29

3. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures;Genetics in Medicine;2023-12

4. Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans;Nature Reviews Genetics;2023-07-25

5. The ZMYND8 chromatin factor protects cardiomyocyte identity and function in the mouse heart;2022-10-07