Next‐generation DNA sequencing of HEXA : a step in the right direction for carrier screening-Reference-Cited by-同舟云学术

Next‐generation DNA sequencing of HEXA : a step in the right direction for carrier screening

Published:2013-09-16 Issue:4 Volume:1 Page:260-268
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Hoffman Jodi D.¹,Greger Valerie²,Strovel Erin T.³,Blitzer Miriam G.³,Umbarger Mark A.²,Kennedy Caleb²,Bishop Brian²,Saunders Patrick²,Porreca Gregory J.²,Schienda Jaclyn⁴,Davie Jocelyn²,Hallam Stephanie²,Towne Charles²

Affiliation:

1. Division of Genetics Department of Pediatrics Floating Hospital for Children Tufts Medical Center Boston Massachusetts

2. Good Start Genetics Inc. Cambridge Massachusetts

3. Division of Genetics Department of Pediatrics University of MD School of Medicine Baltimore Maryland

4. Dana Farber Cancer Institute Boston Massachusetts

Funder

Good Start Genetics, Inc

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.37

Reference40 articles.

1. A method and server for predicting damaging missense mutations

2. Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

3. Ten novel mutations in the HEXA gene in non-Jewish Tay — Sachs patients

4. A novelHEXAmutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient

5. Genetic variants of Tay‐Sachs disease: Tay‐Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay‐Sachs disease in Lebanese Canadians, and a Tay‐Sachs screening program in the French‐Canadian population;Andermann E.;Prog. Clin. Biol. Res.,1977

Cited by 24 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. Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing;Frontiers in Genetics;2023-04-05

2. A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease;Molecular Genetics and Metabolism;2021-07

3. Highlights on Genomics Applications for Lysosomal Storage Diseases;Cells;2020-08-14

4. Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients;Molecular Genetics & Genomic Medicine;2019-12-27

5. Thirty two novel nsSNPs May effect onHEXAprotein Leading to Tay-Sachs disease (TSD) Using a Computational Approach;2019-09-09