Genetic and phenotypic spectrum in the <scp> <i>NONO</i> </scp> ‐associated syndromic disorder-Reference-Cited by-同舟云学术

Genetic and phenotypic spectrum in the NONO ‐associated syndromic disorder

Published:2022-11-25 Issue:2 Volume:191 Page:469-478
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Roessler Franziska¹^ORCID,Beck Anita E.²³,Susie Ball⁴,Tobias Bartolomaeus¹^ORCID,Begtrup Amber⁵,Biskup Saskia⁶,Caluseriu Oana⁷,Delanty Norman⁸⁹,Fröhlich Christine⁶,Greally Marie T.⁸¹⁰,Karnstedt Maike¹,Klöckner Chiara¹,Kurtzberg Joanne¹¹,Schubert Susanna¹,Schulze Martin⁶,Weidenbach Michael¹²,Westphal Dominik S.¹³¹⁴,White Maire⁸¹⁰,Wolf Cordula M.¹⁵,Zyskind Jacob⁵,Popp Bernt¹^ORCID,Strehlow Vincent¹^ORCID

Affiliation:

1. Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany

2. Division of Genetic Medicine, Department of Pediatrics University of Washington Seattle Washington USA

3. Seattle Children's Hospital Seattle Washington USA

4. Central Washington Genetics Program Yakima Valley Memorial Yakima Washington USA

5. GeneDx Gaithersburg Maryland USA

6. Praxis für Humangenetik Tübingen Germany

7. Department of Medical Genetics University of Alberta Edmonton Alberta Canada

8. FutureNeuro SFI Research Centre The Royal College of Surgeons in Ireland Dublin Ireland

9. Department of Neurology, Beaumont Hospital Dublin Ireland

10. School of Pharmacy and Biomolecular Sciences The Royal College of Surgeons in Ireland Dublin Ireland

11. Marcus Center for Cellular Cures Duke University School of Medicine Durham North Carolina USA

12. Department for Pediatric Cardiology Heart Center Leipzig, University of Leipzig Leipzig Germany

13. Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine Technical University Munich Germany

14. Department of Internal Medicine I, Klinikum Rechts der Isar, School of Medicine Technical University Munich Munich Germany

15. Department of Congenital Heart Defects and Pediatric Cardiology, German Heart Center Munich Technical University of Munich, School of Medicine and Health, DZHK (German Centre for Cardiovascular Research), Munich Heart Alliance Munich Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63044

Reference19 articles.

1. Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome

2. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

3. Isolated noncompaction of left ventricular myocardium. A study of eight cases.

4. The mutational constraint spectrum quantified from variation in 141,456 humans

5. Intervene: a tool for intersection and visualization of multiple gene or genomic region sets

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2. A Novel Mutation of NONO-Associated X-linked Syndromic Intellectual Developmental Disorder-34 in a Fetus;2024-05-09

3. X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review;Molecular Genetics and Metabolism Reports;2024-03

4. Established and Evolving Roles of the Multifunctional Non-POU Domain-Containing Octamer-Binding Protein (NonO) and Splicing Factor Proline- and Glutamine-Rich (SFPQ);Journal of Developmental Biology;2024-01-05

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