De novo variants in neurodevelopmental disorders—experiences from a tertiary care center-Reference-Cited by-同舟云学术

De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

Published:2021-03 Issue:1 Volume:100 Page:14-28
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Brunet Theresa¹^ORCID,Jech Robert²,Brugger Melanie¹³,Kovacs Reka¹,Alhaddad Bader¹,Leszinski Gloria¹^ORCID,Riedhammer Korbinian M.¹⁴,Westphal Dominik S.¹⁵^ORCID,Mahle Isabella¹,Mayerhanser Katharina¹,Skorvanek Matej⁶⁷,Weber Sandrina⁸⁹,Graf Elisabeth¹¹⁰,Berutti Riccardo¹,Necpál Ján¹¹,Havránková Petra²,Pavelekova Petra⁶⁷^ORCID,Hempel Maja¹²,Kotzaeridou Urania¹³,Hoffmann Georg F.¹³,Leiz Steffen¹⁴,Makowski Christine¹⁵,Roser Timo¹⁶,Schroeder Sebastian A.¹⁶,Steinfeld Robert¹⁷,Strobl‐Wildemann Gertrud¹⁸,Hoefele Julia¹,Borggraefe Ingo¹⁶,Distelmaier Felix¹⁹^ORCID,Strom Tim M.¹,Winkelmann Juliane¹⁸²⁰²¹,Meitinger Thomas¹,Zech Michael¹⁸,Wagner Matias¹⁸^ORCID

Affiliation:

1. Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine Technical University of Munich Munich Germany

2. Department of Neurology Charles University, 1st Faculty of Medicine and General University Hospital in Prague Prague Czech Republic

3. Institute of Human Genetics, University Hospital Ludwig Maximilians University of Munich Munich Germany

4. Department of Nephrology Klinikum rechts der Isar, Technical University of Munich Munich Germany

5. Medical Department I, Cardiology Klinikum rechts der Isar, Technical University of Munich Munich Germany

6. Department of Neurology P. J. Safarik University Kosice Slovakia

7. Department of Neurology University Hospital L. Pasteur Kosice Slovakia

8. Institute of Neurogenomics Helmholtz Zentrum München Neuherberg Germany

9. Paracelsus‐Elena‐Klinik Kassel Germany

10. Institute of Human Genetics Helmholtz Zentrum München Neuherberg Germany

11. Department of Neurology Zvolen Hospital Zvolen Slovakia

12. Institute of Human Genetics University Medical Center Hamburg‐Eppendorf Hamburg Germany

13. Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany

14. Divison of Neuropediatrics Clinic for Children and Adolescents Dritter Orden Munich Germany

15. Department of Pediatrics Technische Universität München Munich Germany

16. Department of Paediatric Neurology and Developmental Medicine Hauner Children's Hospital, University of Munich Munich Germany

17. Division of Pediatric Neurology University Children's Hospital Zurich Zurich Switzerland

18. Praxis für Humangenetik Ulm Germany

19. Department of General Pediatrics, Neonatology and Pediatric Cardiology Heinrich‐Heine‐University Düsseldorf Germany

20. Munich Cluster for Systems Neurology (SyNergy) Munich Germany

21. Neurogenetics Technische Universität München Munich Germany

Funder

Univerzita Karlova v Praze

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13946

Reference51 articles.

1. Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence

2. Diagnostic and Statistical Manual of Mental Disorders

3. Interpreting the impact of noncoding structural variation in neurodevelopmental disorders

4. Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules

5. Evidence for 28 genetic disorders discovered by combining healthcare and research data

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