Publications:

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.

International Journal Of Molecular Sciences

Reurink, Janine J; Dockery, Adrian A; Oziębło, Dominika D; Farrar, G Jane GJ; Ołdak, Monika M; Ten Brink, Jacoline B JB; Bergen, Arthur A AA; Rinne, Tuula T; Yntema, Helger G HG; Pennings, Ronald J E RJE; van den Born, L Ingeborgh LI; Aben, Marco M; Oostrik, Jaap J; Venselaar, Hanka H; Plomp, Astrid S AS; Khan, M Imran MI; van Wijk, Erwin E; Cremers, Frans P M FPM; Roosing, Susanne S; Kremer, Hannie H

Publication Date: 2021-06-15

Variant appearance in text: USH2A: 11389+14del

PubMed Link: 34203967

Variant Present in the following documents:

• Main text
• ijms-22-06419.pdf

View BVdb publication page

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: USH2A: 11389+14delA

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: USH2A: 11389+14delA

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

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A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.

Frontiers In Genetics

Sun, Yixi Y; Li, Yanfeng Y; Chen, Min M; Luo, Yuqin Y; Qian, Yeqing Y; Yang, Yanmei Y; Lu, Hong H; Lou, Fenlan F; Dong, Minyue M

Publication Date: 2019

Variant appearance in text: USH2A: 11389+14delA

PubMed Link: 31572438

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page