Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia
This study provides Class IV evidence that in unexplained neonatal hypotonia, rapid ES or GS adds diagnostic specificity.
Authors
- Monica H. Wojcik (ORCID: https://orcid.org/0000-0002-8162-5031)
- Sebastian Lunke (ORCID: https://orcid.org/0000-0002-7168-0723)
- Alissa M. D’Gama (ORCID: https://orcid.org/0000-0002-2482-5328)
- Sarah U. Morton (ORCID: https://orcid.org/0000-0002-7816-2646)
- James J. Dowling (ORCID: https://orcid.org/0000-0002-3984-4169)
- Ronald D. Cohn (ORCID: https://orcid.org/0000-0002-6775-1496)
- David H. Rowitch (ORCID: https://orcid.org/0000-0002-0079-0060)
- John Christodoulou (ORCID: https://orcid.org/0000-0002-8431-0641)
- Gregory Costain (ORCID: https://orcid.org/0000-0003-0099-9945)
- Anna Szuto (ORCID: https://orcid.org/0000-0001-9140-6193)
- Alan H. Beggs (ORCID: https://orcid.org/0000-0001-8818-0568)
- Courtney E. French (ORCID: https://orcid.org/0000-0001-7620-1544)
- Zornitza Stark (ORCID: https://orcid.org/0000-0001-8640-1371)
- Basil T. Darras (ORCID: https://orcid.org/0000-0002-1536-8145)
- Emma Wakeling (ORCID: https://orcid.org/0000-0001-5712-0044)
- F. Lucy Raymond (ORCID: https://orcid.org/0000-0003-2652-3355)
- Pankaj B. Agrawal (ORCID: https://orcid.org/0000-0003-3255-0456)
- Francesco Muntoni (ORCID: https://orcid.org/0000-0002-9102-5232)
Institutions
- Boston Children's Hospital (US)
Publication Details
- Journal
- Neurology
- Published
- 2024-12-19
- DOI
- https://doi.org/10.1212/wnl.0000000000210106
- Citations
- 8
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 3.50
Funders
- American Heart Association
- Children's Hospital Foundation
- Royal Children's Hospital Foundation
- National Institute for Health and Care Research
- Department of Health and Social Care
- University of Cambridge
- University College London
- Cambridge University Hospitals
- University of Toronto
- State Government of Victoria
- Hospital for Sick Children
- Canadian Institutes of Health Research
- Medical Research Council
- National Health and Medical Research Council
- Great Ormond Street Institute of Child Health
- NIHR Cambridge Biomedical Research Centre
- National Heart, Lung, and Blood Institute