Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses-Reference-Cited by-同舟云学术

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

Published:2021-11-23 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Herman Isabella¹²³^ORCID,Jolly Angad²⁴,Du Haowei²,Dawood Moez²⁴⁵,Abdel‐Salam Ghada M. H.⁶,Marafi Dana²⁷^ORCID,Mitani Tadahiro²,Calame Daniel G.¹²³^ORCID,Coban‐Akdemir Zeynep²⁸,Fatih Jawid M.²,Hegazy Ibrahim⁶,Jhangiani Shalini N.²⁵,Gibbs Richard A.²⁵^ORCID,Pehlivan Davut¹²³,Posey Jennifer E.²^ORCID,Lupski James R.²³⁵⁹^ORCID

Affiliation:

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

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

3. Texas Children's Hospital Houston Texas USA

4. Medical Scientist Training Program Baylor College of Medicine Houston Texas USA

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

6. Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre Cairo Egypt

7. Department of Pediatrics Faculty of Medicine, Kuwait University Safat Kuwait

8. Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences School of Public Health, The University of Texas Health Science Center at Houston Houston Texas USA

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

Funder

National Human Genome Research Institute

National Institute of Neurological Disorders and Stroke

International Rett Syndrome Foundation

Uehara Memorial Foundation

Muscular Dystrophy Association

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link