Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping-Reference-Cited by-同舟云学术

Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping

Published:2023-12 Issue:6 Volume:9 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Guruju Naga M.¹^ORCID,Jump Vanessa¹,Lemmers Richard¹,Van Der Maarel Silvere¹^ORCID,Liu Ruby¹,Nallamilli Babi R.¹,Shenoy Suresh¹,Chaubey Alka¹,Koppikar Pratik¹,Rose Rajiv¹,Khadilkar Satish¹^ORCID,Hegde Madhuri¹

Affiliation:

1. From the Revvity Omics (N.M.G., V.J., Ruby Liu, B.R.N., S.S., R.R., M.H.), Pittsburgh, PA; Leiden University Medical Centre (Richard Lemmers, S.V.D.M.), Netherlands; Bionano Genomics (A.C.), San Diego, CA; UT Dallas (P.K.), TX; Bombay Hospital (S.K.), Mumbai, India.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200107

Reference35 articles.

1. Population-based incidence and prevalence of facioscapulohumeral dystrophy

2. LaPelusa A, Kentris M. Muscular Dystrophy. StatPearls; 2023.

3. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

4. Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

5. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element

Cited by 6 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. Maximal Oxygen Consumption Is Negatively Associated with Fat Mass in Facioscapulohumeral Dystrophy;International Journal of Environmental Research and Public Health;2024-07-26

2. Optical Genome Mapping for Applications in Repeat Expansion Disorders;Current Protocols;2024-07

3. Optical Genome Mapping in Prenatal Diagnosis: Democratizing Comprehensive Cytogenomic Testing;Clinical Chemistry;2024-05-07

4. The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India;European Journal of Human Genetics;2024-04-25

5. Optical genome mapping enables accurate repeat expansion testing;2024-04-22