Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods-Reference-Cited by-同舟云学术

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Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods

Published:2021-12-02 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

McKnight Dianalee¹^ORCID,Bean Lora²,Karbassi Izabela³,Beattie Katelynn⁴,Bienvenu Thierry⁵^ORCID,Bonin Hope⁶,Fang Ping⁷,Chrisodoulou John⁸⁹^ORCID,Friez Michael¹⁰,Helgeson Maria¹,Krishnaraj Rahul⁹¹¹,Meng Linyan⁷^ORCID,Mighion Lindsey⁴,Neul Jeffrey¹²,Percy Alan¹³,Ramsden Simon⁶,Zoghbi Huda⁷,Das Soma¹⁴

Affiliation:

1. Invitae San Francisco California USA

2. Perkin Elmer Duluth Georgia USA

3. Athena Diagnostics Worcester Massachusetts USA

4. GeneDx Gaithersburg Massachusetts USA

5. Institut de Psychiatrie et de Neurosciences de Paris (IPNP) Paris France

6. Central Manchester University Hospital Manchester Greater Manchester UK

7. Baylor College of Medicine Houston Texas USA

8. Murdoch Childrens Research Institute and the University of Melbourne Parkville Victoria Australia

9. University of Sydney Sydney New South Wales Australia

10. Greenwood Genetic Center Greenwood South Carolina USA

11. Children's Hospital at Westmead Westmead New South Wales Australia

12. Vanderbilt Kennedy Center Nashville Tennessee USA

13. University of Alabama at Birmingham Birmingham Alabama USA

14. University of Chicago Chicago Illinois USA

Funder

Royal Children's Hospital Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24302

Reference70 articles.

1. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

2. MeCP2: structure and functionThis paper is one of a selection of papers published in a Special Issue entitled 31st Annual International Asilomar Chromatin and Chromosomes Conference, and has undergone the Journal’s usual peer review process.

3. Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

4. FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

5. MECP2 mutations account for most cases of typical forms of Rett syndrome

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1. Deletions in the CDKL5 5′ untranslated region lead to CDKL5 deficiency disorder;American Journal of Medical Genetics Part A;2024-08-28

2. A multi-model approach defines function altering MECP2 missense variants identified in individuals with autism spectrum disorder;2024-08-13

3. Rett syndrome: The Natural History Study journey;Annals of the Child Neurology Society;2024-08-11

4. ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes;Molecular Genetics and Metabolism;2024-05

5. Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey;Congenital Anomalies;2024-03-23

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