A novel <i>SYNJ1</i> homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual-Reference-Cited by-同舟云学术

A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual

Published:2022-09-23 Issue:1 Volume:11 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Maj Mary¹^ORCID,Taylor Christie L.²,Landau Kevin¹,Toriello Helga V.³,Li Dong⁴⁵⁶^ORCID,Bhoj Elizabeth J.⁴⁵⁶^ORCID,Hakonarson Hakon³⁴⁶^ORCID,Nelson Beverly⁷⁸,Gluschitz Sarah⁹,Walker Ruth H.¹⁰¹¹,Sobering Andrew K.¹¹²¹³^ORCID

Affiliation:

1. Department of Biochemistry St. George's University School of Medicine St. George's Grenada

2. Augusta University/University of Georgia Medical Partnership Campus of the Medical College of Georgia Athens Georgia USA

3. Department of Pediatrics and Human Development Michigan State University East Lansing Michigan USA

4. Center for Applied Genomics The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

5. Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

6. Department of Pediatrics University of Pennsylvania Perelman School of Medicine Philadelphia Pennsylvania USA

7. Pediatrics Ward Grenada General Hospital St. George's Grenada

8. Clinical Teaching Unit St. George's University School of Medicine St. George's Grenada

9. Department of Anatomical Sciences St. George's University School of Medicine St. George's Grenada

10. Department of Neurology James J. Peters Veterans Affairs Medical Center Bronx New York USA

11. Department of Neurology Mount Sinai School of Medicine New York City New York USA

12. Department of Basic Sciences, University of Georgia Health Sciences Campus Augusta University/University of Georgia Medical Partnership Athens Georgia USA

13. Windward Islands Research and Education Foundation St. George's Grenada

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2064

Reference30 articles.

1. SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure

2. A dyadic approach to the delineation of diagnostic entities in clinical genomics

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

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Expanding the clinical phenotype and variant spectrum associated with RFX7;American Journal of Medical Genetics Part A;2024-07-15

2. Genetic Evidence for Endolysosomal Dysfunction in Parkinson’s Disease: A Critical Overview;International Journal of Molecular Sciences;2023-03-28