Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

Author:

Lin Sheng‐Jia1ORCID,Vona Barbara234ORCID,Porter Hillary M.5ORCID,Izadi Mahmoud6ORCID,Huang Kevin1ORCID,Lacassie Yves7ORCID,Rosenfeld Jill A.89ORCID,Khan Saadullah10ORCID,Petree Cassidy1ORCID,Ali Tayyiba A.6ORCID,Muhammad Nazif10,Khan Sher A.10ORCID,Muhammad Noor10ORCID,Liu Pengfei89ORCID,Haymon Marie‐Louise11,Rüschendorf Franz12ORCID,Kong Il‐Keun13ORCID,Schnapp Linda2,Shur Natasha5,Chorich Lynn14ORCID,Layman Lawrence14ORCID,Haaf Thomas2,Pourkarimi Ehsan6ORCID,Kim Hyung‐Goo15ORCID,Varshney Gaurav K.1ORCID

Affiliation:

1. Genes & Human Disease Research Program Oklahoma Medical Research Foundation Oklahoma City Oklahoma USA

2. Institute of Human Genetics Julius Maximilians University Würzburg Würzburg Germany

3. Institute for Auditory Neuroscience and InnerEarLab University Medical Center Göttingen Göttingen Germany

4. Institute of Human Genetics University Medical Center Göttingen Göttingen Germany

5. Children's National Hospital Rare Disease Institute Washington District of Columbia USA

6. Division of Genomics and Translational Medicine, College of Health and Life Sciences Hamad Bin Khalifa University Doha Qatar

7. Department of Pediatrics, Louisiana State University Health Sciences Center Head Division of Clinical Genetics and Dept. of Genetics Children's Hospital 1986‐2016 New Orleans Los Angeles USA

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

9. Baylor Genetics Laboratories Houston Texas USA

10. Department of Biotechnology and Genetic Engineering Kohat University of Science & Technology Kohat Khyber Pakhtunkhwa Pakistan

11. Children Hospital New Orleans Louisiana, Pediatric Radiology Tulane Associate Professor of Radiology New Orleans Los Angeles USA

12. Max Delbrück Center for Molecular Medicine in the Helmholtz Association Berlin Germany

13. Department of Animal Sciences, Division of Applied Life Science (BK21 Four) Gyeongsang National University Jinju South Korea

14. Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Department of Neuroscience and Regenerative Medicine, Medical College of Georgia Augusta University Augusta USA

15. Neurological Disorders Research Center, Qatar Biomedical Research Institute Hamad Bin Khalifa University Doha Qatar

Funder

Deutsche Forschungsgemeinschaft

Qatar Foundation

National Research Foundation of Korea

Oklahoma Medical Research Foundation

Presbyterian Health Foundation

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

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