Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy-Reference-Cited by-同舟云学术

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Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy

Published:2019-05-13 Issue: Volume: Page:
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Tomar Swati¹,Moorthy Vikaesh²,Sethi Raman¹,Chai Josiah³,Low Poh Sim¹,Hong Stacey Tay Kiat¹,Lai Poh San¹^ORCID

Affiliation:

1. Department of Paediatrics, Yong Loo Lin School of MedicineNational University of Singapore Singapore

2. Yong Loo Lin School of MedicineNational University of Singapore Singapore

3. Department of Neurology, National Neuroscience Institute Singapore

Funder

National Medical Research Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31704

Reference140 articles.

1. Theoretic applicability of antisense‐mediated exon skipping for Duchenne muscular dystrophy mutations;Aartsma‐Rus A.;Human Mutation,2009

2. The importance of genetic diagnosis for Duchenne muscular dystrophy;Aartsma‐Rus A.;Journal of Medical Genetics,2016

3. Antisense‐induced exon skipping for duplications in Duchenne muscular dystrophy;Aartsma‐Rus A.;BMC Medical Genetics,2007

4. Development of exon skipping therapies for Duchenne muscular dystrophy: A critical review and a perspective on the outstanding issues;Aartsma‐Rus A.;Nucleic Acid Therapeutics,2017

5. Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame rule;Aartsma‐Rus A.;Muscle & Nerve,2006

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1. Clinical Diagnosis and Genetic Analysis of Children With Muscular Dystrophies;Clinical Pediatrics;2024-08-28

2. Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48;American Journal of Medical Genetics Part A;2024-08-19

3. Splice site recognition - deciphering Exon-Intron transitions for genetic insights using Enhanced integrated Block-Level gated LSTM model;Gene;2024-07

4. Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies;Orphanet Journal of Rare Diseases;2024-03-14

5. Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients;F1000Research;2023-11-17

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