Publications:

Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Frontiers In Genetics

Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S

Publication Date: 2022

Variant appearance in text: DMD: 31+36947G>A

PubMed Link: 35754842

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Bmc Cardiovascular Disorders

Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J

Publication Date: 2021-03-05

Variant appearance in text: DMD: 31+36947G>A

PubMed Link: 33673806

Variant Present in the following documents:

• 12872_2021_1927_MOESM1_ESM.xlsx, sheet 1

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Pseudoexons of the DMD Gene.

Journal Of Neuromuscular Diseases

Keegan, Niall P NP

Publication Date: 2020

Variant appearance in text: DMD: 31+36947G>A

PubMed Link: 32176650

Variant Present in the following documents:

• Main text
• jnd-7-jnd190431.pdf

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[Application of next-generation sequencing in the molecular diagnosis of Duchenne muscular dystrophy].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Tian, Pei-Chao PC; Wang, Yue Y; Shi, Dan-Dan DD; Chen, Zheng Z; Luo, Qiang Q; Wang, Huai-Li HL

Publication Date: 2019-03

Variant appearance in text: DMD: 31+36947G>A

PubMed Link: 30907348

Variant Present in the following documents:

• Main text

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