De novo putative loss‐of‐function variants in <i>TAF4</i> are associated with a neuro‐developmental disorder-Reference-Cited by-同舟云学术

De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

Published:2022-08-10 Issue:12 Volume:43 Page:1844-1851
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Janssen Beau D. E.¹,van den Boogaard Marie‐Jose H.¹,Lichtenbelt Klaske¹,Seaby Eleanor G.²,Stals Karen³,Ellard Sian³⁴,Newbury‐Ecob Ruth⁵,Dixit Abhijit⁶,Roht Laura⁷⁸,Pajusalu Sander⁷⁸^ORCID,Õunap Katrin⁷⁸^ORCID,Firth Helen V.⁹,Buckley Michael¹⁰,Wilson Meredith¹¹,Roscioli Tony¹⁰¹²¹⁰,Tidwell Timothy¹³,Mao Rong¹³¹⁴,Ennis Sarah²,Holwerda Sjoerd J.¹,van Gassen Koen¹,van Jaarsveld Richard H.¹^ORCID

Affiliation:

1. Department of Genetics University Medical Center Utrecht Utrecht The Netherlands

2. Genomic Informatics Group University of Southampton Southampton UK

3. Exeter Genomic Laboratory Royal Devon & Exeter NHS Foundation Trust Exeter UK

4. Institute of Biomedical and Clinical Science University of Exeter Medical School Exeter UK

5. Clinical Genetics, St Michael's Hospital Bristol University Hospitals Bristol NHS Foundation Trust Bristol UK

6. Department of Clinical Genetics Nottingham University Hospitals NHS Trust Nottingham UK

7. Department of Clinical Genetics Tartu University Hospital Tartu Estonia

8. Department of Clinical Genetics, Institute of Clinical Medicine Tartu University Tartu Estonia

9. Wellcome Sanger Institute Cambridge UK

10. Randwick Genomics laboratory New South Wales Health Pathology Sydney New South Wales Australia

11. Department of Clinical Genetics, Children's Hospital at Westmead, and Discipline of Genomic Medicine University of Sydney Sydney New South Wales Australia

12. Neurosciences Research Australia University of NSW Kensington New South Wales Australia

13. ARUP Laboratories Salt Lake City Utah USA

14. Department of Pathology University of Utah School of Medicine Salt Lake City Utah USA

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24444

Reference31 articles.

1. Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

2. TAF4b and TAF4 differentially regulate mouse embryonic stem cells maintenance and proliferation

3. The architecture of human general transcription factor TFIID core complex

4. A specific role for the TFIID subunit TAF4 and RanBPM in neural progenitor differentiation

5. Novel isoforms of the TFIID subunit TAF4 modulate nuclear receptor-mediated transcriptional activity

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