Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease-Reference-Cited by-同舟云学术

Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

Published:2021-05-11 Issue:6 Volume:42 Page:745-761
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Cappuccio Gerarda¹²^ORCID,Ceccatelli Berti Camilla³^ORCID,Baruffini Enrico³^ORCID,Sullivan Jennifer⁴,Shashi Vandana⁴^ORCID,Jewett Tamison⁵,Stamper Tara⁵,Maitz Silvia⁶,Canonico Francesco⁷,Revah‐Politi Anya⁸,Kupchik Gabriel S.⁹,Anyane‐Yeboa Kwame¹⁰,Aggarwal Vimla¹¹,Benneche Andreas¹²,Bratland Eirik¹²,Berland Siren¹²,D'Arco Felice¹³,Alves Cesar A.¹⁴,Vanderver Adeline¹⁵,Longo Daniela¹⁶,Bertini Enrico¹⁷^ORCID,Torella Annalaura²¹⁸,Nigro Vincenzo²¹⁸,D'Amico Alessandra¹⁹,Knaap Marjo S.²⁰²¹^ORCID,Goffrini Paola³,Brunetti‐Pierri Nicola¹²^ORCID,

Affiliation:

1. Department of Translational Medicine Federico II University Naples Italy

2. Telethon Institute of Genetics and Medicine Pozzuoli Naples Italy

3. Department of Chemistry, Life Sciences and Environmental Sustainability University of Parma Parma Italy

4. Division of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham North Carolina USA

5. Department of Pediatrics, Section on Medical Genetics Wake Forest University School of Medicine, Winston‐Salem North Carolina USA

6. Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo Monza Italy

7. Department of Neuroradiology, San Gerardo Hospital, ASST di Monza Università degli Studi di Milano Bicocca Monza Italy

8. Department of Pathology and Cell Biology, Institute for Genomic Medicine Columbia University Irving Medical Center New York New York USA

9. Division of Medical Genetics, Maimonides Children's Hospital of Brooklyn at Maimonides Medical Center, Downstate Medical Center State University of New York New York New York USA

10. Department of Pediatrics Institute for Genomic Medicine Columbia University Medical Center New York New York USA

11. Department of Pathology and Cell Biology Columbia University Irving Medical Center New York New York USA

12. Department of Medical Genetics Haukeland University Hospital Bergen Norway

13. Department of Paediatric Neuroradiology Great Ormond Street Hospital for Children NHS Foundation Trust London UK

14. Division of Neuroradiology, Department of Radiology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

15. Division of Neurology, Children's Hospital of Philadelphia and Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

16. Department of Diagnostic Imaging Pediatric Hospital Bambino Gesù Rome Italy

17. Department of Neuroscience Unit of Neuromuscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Children's Hospital Rome Italy

18. Department of Precision Medicine University of Campania Luigi Vanvitelli Naples Italy

19. Department of Advanced Biomedical Sciences Federico II University Naples Italy

20. Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital Amsterdam University Medical Centers and Amsterdam Neuroscience Amsterdam The Netherlands

21. Department of Functional Genomics, Center for Neurogenomics and Cognitive Research VU University Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24210

Reference51 articles.

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4. Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

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