Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: FBN1: C727R; rs1064794025

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.

Molecular Medicine Reports

Zhou, Yijing Y; Guo, Dongwei D; Cao, Qianzhong Q; Zhang, Xinyu X; Jin, Guangming G; Zheng, Danying D

Publication Date: 2021-04

Variant appearance in text: FBN1: 2179T>C; Cys727Arg

PubMed Link: 33576469

Variant Present in the following documents:

• Main text
• mmr-23-04-11914.pdf

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Differential diagnosis of Marfan syndrome based on ocular biologic parameters.

Annals Of Translational Medicine

Wang, Yiyao Y; Lian, Zhangkai Z; Zhou, Yijing Y; Li, Xuepei X; Wu, Jieyi J; Zhang, Xinyu X; Jin, Guangming G; Zheng, Danying D

Publication Date: 2020-11

Variant appearance in text: FBN1: 2179T>C

PubMed Link: 33313099

Variant Present in the following documents:

• atm-08-21-1354-supplementary.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: FBN1: 2179T>C; Cys727Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: FBN1: 2179T>C; C727R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Translational Vision Science & Technology

Wang, Panfeng P; Li, Shiqiang S; Sun, Wenming W; Xiao, Xueshan X; Jia, Xiaoyun X; Liu, Mengchu M; Xu, Lieqiang L; Long, Yuxi Y; Zhang, Qingjiong Q

Publication Date: 2019-03

Variant appearance in text: FBN1: Cys727Arg

PubMed Link: 31106028

Variant Present in the following documents:

• tvst-08-02-12_s02.xlsx, sheet 1

View BVdb publication page

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