Publications:

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science

Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W

Publication Date: 2023-02-01

Variant appearance in text: FBN1: G1344E

PubMed Link: 36729443

Variant Present in the following documents:

• iovs-64-2-5.pdf

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Clinical and genetic findings in Chinese families with congenital ectopia lentis.

Molecular Genetics & Genomic Medicine

Liu, Xin X; Niu, Liman L; Zhang, Liyun L; Jiang, Liqiong L; Liu, Kaiqing K; Wu, Xueping X; Liu, Xinhua X; Wang, Jiantao J

Publication Date: 2023-01-20

Variant appearance in text: FBN1: G1344E

PubMed Link: 36670079

Variant Present in the following documents:

• MGG3-11-e2140.pdf

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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.

Scientific Reports

Rowlands, Charlie C; Thomas, Huw B HB; Lord, Jenny J; Wai, Htoo A HA; Arno, Gavin G; Beaman, Glenda G; Sergouniotis, Panagiotis P; Gomes-Silva, Beatriz B; Campbell, Christopher C; Gossan, Nicole N; Hardcastle, Claire C; Webb, Kevin K; O'Callaghan, Christopher C; Hirst, Robert A RA; Ramsden, Simon S; Jones, Elizabeth E; Clayton-Smith, Jill J; Webster, Andrew R AR; , ; Douglas, Andrew G L AGL; O'Keefe, Raymond T RT; Newman, William G WG; Baralle, Diana D; Black, Graeme C M GCM; Ellingford, Jamie M JM

Publication Date: 2021-10-18

Variant appearance in text: FBN1: 4031G>A

PubMed Link: 34663891

Variant Present in the following documents:

• 41598_2021_99747_MOESM2_ESM.xlsx, sheet 1

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Novel p.G1344E mutation in FBN1 is associated with ectopia lentis.

The British Journal Of Ophthalmology

Yang, Yuan Y; Zhou, Ya-Li YL; Yao, Teng-Teng TT; Pan, Hui H; Gu, Ping P; Wang, Zhao-Yang ZY

Publication Date: 2021-03

Variant appearance in text: FBN1: 4031G>A; Gly1344Glu

PubMed Link: 32404357

Variant Present in the following documents:

• Main text
• bjophthalmol-2019-315265.pdf

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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wai, Htoo A HA; Lord, Jenny J; Lyon, Matthew M; Gunning, Adam A; Kelly, Hugh H; Cibin, Penelope P; Seaby, Eleanor G EG; Spiers-Fitzgerald, Kerry K; Lye, Jed J; Ellard, Sian S; Thomas, N Simon NS; Bunyan, David J DJ; Douglas, Andrew G L AGL; Baralle, Diana D; ,

Publication Date: 2020-06

Variant appearance in text: FBN1: 4031G>A; Gly1344Glu; rs1555397725

PubMed Link: 32123317

Variant Present in the following documents:

• 41436_2020_766_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page