Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability-Reference-Cited by-同舟云学术

Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Published:2021-05-11 Issue:6 Volume:42 Page:762-776
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Neuser Sonja¹^ORCID,Brechmann Barbara²³^ORCID,Heimer Gali⁴⁵^ORCID,Brösse Ines³,Schubert Susanna¹,O'Grady Lauren⁶,Zech Michael⁷⁸,Srivastava Siddharth²,Sweetser David A.⁶^ORCID,Dincer Yasemin⁹¹⁰,Mall Volker⁹¹¹,Winkelmann Juliane⁷⁸¹²¹³,Behrends Christian¹³^ORCID,Darras Basil T.¹⁴,Graham Robert J.¹⁵,Jayakar Parul¹⁶,Byrne Barry¹⁷,Bar‐Aluma Bat El⁴⁵,Haberman Yael⁴⁵¹⁸,Szeinberg Amir⁴⁵,Aldhalaan Hesham M.¹⁹,Hashem Mais¹⁹,Al Tenaiji Amal²⁰,Ismayl Omar²⁰,Al Nuaimi Asma E.²⁰,Maher Karima²⁰,Ibrahim Shahnaz²¹,Khan Fatima²¹,Houlden Henry²²,Ramakumaran Vijayalakshmi S.²³,Pagnamenta Alistair T.²⁴^ORCID,Posey Jennifer E.²⁵^ORCID,Lupski James R.²⁵²⁶²⁷²⁸^ORCID,Tan Wen‐Hann²⁹^ORCID,ElGhazali Gehad²⁰,Herman Isabella²⁵²⁷³⁰^ORCID,Muñoz Tatiana³¹,Repetto Gabriela M.³¹^ORCID,Seitz Angelika³²,Krumbiegel Mandy³³,Poli Maria Cecilia²⁶³¹^ORCID,Kini Usha²³^ORCID,Efthymiou Stephanie²²^ORCID,Meiler Jens³⁴³⁵^ORCID,Maroofian Reza²²^ORCID,Alkuraya Fowzan S.¹⁹³⁶^ORCID,Abou Jamra Rami¹^ORCID,Popp Bernt¹^ORCID,Ben‐Zeev Bruria⁴⁵,Ebrahimi‐Fakhari Darius²^ORCID

Affiliation:

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

2. Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA

3. Department of Pediatrics, Hospital for Children and Adolescents Heidelberg University Hospital Heidelberg Germany

4. Edmond and Lily Safra Children's Hospital Sheba Medical Center Ramat Gan Israel

5. Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel

6. Department of Pediatrics, Division of Medical Genetics and Metabolism Massachusetts General Hospital Boston Massachusetts USA

7. Institute of Neurogenomics Helmholtz Zentrum München Munich Germany

8. Institute of Human Genetics, Klinikum rechts der Isar Technical University of Munich Munich Germany

9. Lehrstuhl für Sozialpädiatrie, Department of Pediatrics Technische Universität München Germany

10. Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ) Martinsried Germany

11. kbo‐Kinderzentrum München Munich Germany

12. Lehrstuhl für Neurogenetik Technische Universität München Munich Germany

13. Munich Cluster for Systems Neurology (Synergy) Ludwig‐Maximilians‐Universität München Munich Germany

14. Department of Neurology, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA

15. Department of Anesthesia, Critical Care and Pain Medicine, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA

16. Nicklaus Children's Hospital Miami Florida USA

17. Powell Gene Therapy Center University of Florida Gainesville Florida USA

18. Cincinnati Children's Hospital Medical Center and the University of Cincinnati College of Medicine Cincinnati Ohio USA

19. Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

20. Sheikh Khalifa Medical City Abu Dhabi United Arab Emirates

21. Department of Paediatrics and Child Health Aga Khan University Hospital Karachi Pakistan

22. Department of Neuromuscular Disorders, Queen Square Institute of Neurology University College London London UK

23. Oxford Centre for Genomic Medicine Oxford UK

24. NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics University of Oxford Oxford UK

25. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

26. Department of Pediatrics Baylor College of Medicine Houston Texas USA

27. Texas Children's Hospital Houston Texas USA

28. Human Genome Sequencing Center Baylor College of Medicine Houston Texas USA

29. Division of Genetics and Genomics Boston Children's Hospital Boston Massachusetts USA

30. Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience Baylor College of Medicine Houston Texas USA

31. Facultad de Medicina Clinica Alemana Universidad del Desarrollo Santiago Chile

32. Department of Diagnostic and Interventional Radiology Heidelberg University Hospital Heidelberg Germany

33. Institute of Human Genetics Friedrich‐Alexander‐Universität (FAU) Erlangen Germany

34. Department of Chemistry Vanderbilt University Nashville Tennessee USA

35. Institute for Drug Discovery University of Leipzig Medical Center Leipzig Germany

36. Department of Anatomy and Cell Biology, College of Medicine Alfaisal University Riyadh Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24206

Reference36 articles.

1. Expanding the genetic heterogeneity of intellectual disability

2. Network organization of the human autophagy system

3. Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift

4. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

5. WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease

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