ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder-Reference-Cited by-同舟云学术

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

Published:2021-07-16 Issue:4 Volume:100 Page:412-429
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Oates Stephanie¹²^ORCID,Absoud Michael³⁴,Goyal Sushma³,Bayley Sophie²,Baulcomb Jennifer³,Sims Annemarie³,Riddett Amy³,Allis Katrina⁵,Brasch‐Andersen Charlotte⁶⁷^ORCID,Balasubramanian Meena⁸⁹,Bai Renkui⁵,Callewaert Bert¹⁰,Hüffmeier Ulrike¹¹^ORCID,Le Duc Diana¹²^ORCID,Radtke Maximilian¹²,Korff Christian¹³^ORCID,Kennedy Joanna¹⁴,Low Karen¹⁴^ORCID,Møller Rikke S.¹⁵¹⁶^ORCID,Nielsen Jens Erik Klint¹⁷,Popp Bernt¹¹^ORCID,Quteineh Lina¹³¹⁸,Rønde Gitte¹⁷,Schönewolf‐Greulich Bitten¹⁷^ORCID,Shillington Amelle¹⁹^ORCID,Taylor Matthew RG²⁰^ORCID,Todd Emily²⁰,Torring Pernille M.⁶^ORCID,Tümer Zeynep¹⁴²¹^ORCID,Vasileiou Georgia¹¹^ORCID,Yates T. Michael⁸⁹^ORCID,Zweier Christiane²¹,Rosch Richard²²^ORCID,Basson M. Albert²³²⁴,Pal Deb K.¹²³²³^ORCID

Affiliation:

1. Department of Paediatric Neuroscience King's College Hospital London UK

2. Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience Kings College London London UK

3. Newcomen Children's Neurosciences Centre Evelina London Children's Hospital London UK

4. Department of Women and Children's Health, Faculty of Life Sciences and Medicine King's College London London UK

5. Genetic Counselor, Mitochondrial and Metabolic Genetics GeneDx Gaithersburg Maryland USA

6. Department of Clinical Genetics Odense University Hospital Odense Denmark

7. Human Genetics, Department of Clinical Research University of Southern Denmark Odense Denmark

8. Sheffield Clinical Genetics Service Sheffield Children’s NHS Foundation Trust Sheffield UK

9. Academic Unit of Child Health, Department of Oncology & Metabolism University of Sheffield Sheffield UK

10. Centre for Medical Genetics Ghent University Hospital Ghent Belgium

11. Institute of Human Genetics Friedrich‐Alexander Universitat of Erlangen‐Nurnberg Erlangen Germany

12. Institute of Human Genetics University of Leipzig Medical Centre Leipzig Germany

13. Pediatric Neurology Unit University Hospitals Geneva Switzerland

14. Department of Genetics University Hospitals Bristol and Weston NHS Foundation Trust Bristol UK

15. Department of Epilepsy Genetics and Personalized Treatment The Danish Epilepsy Centre Dianalund Denmark

16. Department of Regional Health Research University of Southern Denmark Odense Denmark

17. Department of Clinical Genetics Copenhagen University Hospital – Rigshospitalet Copenhagen Denmark

18. Service of Genetic Medicine, Geneva University Hospitals Geneva Switzerland

19. Pediatric Genetics Cincinnati Children's Hospital Medical Centre USA

20. University of Colorado Anschutz Medical Campus Adult Medical Genetics Program Aurora Colorado USA

21. Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark

22. Department of Human Genetics Inselspital, Bern University Hospital, University of Bern Bern Switzerland

23. MRC Centre for Neurodevelopmental Disorders King's College London London UK

24. Centre for Craniofacial and Regenerative Biology King's College London London UK

Funder

South London and Maudsley NHS Foundation Trust

NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research

Waterloo Foundation

National Institute for Health Research

Canadian Institutes of Health Research

European Commission

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14023

Reference69 articles.

1. Genetically complex epilepsies, copy number variants and syndrome constellations

2. De novo variants in neurodevelopmental disorders with epilepsy

3. Epilepsy genetics: clinical impacts and biological insights

4. Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

5. Refining analyses of copy number variation identifies specific genes associated with developmental delay

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