Publications:

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Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Journal Of The American Heart Association

Yagyu, Takeshi T; Noguchi, Teruo T; Asano, Yoshihiro Y; Ida, Kazufumi K; Ogata, Soshiro S; Nishimura, Kunihiro K; Matsuda, Hitoshi H

Publication Date: 2023-04-12

Variant appearance in text: FBN1: Arg62Cys; rs25403

PubMed Link: 37042257

Variant Present in the following documents:

• JAH3-12-e028625.pdf
• JAH3-12-e028625-s001.pdf

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Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.

Indian Journal Of Ophthalmology

Sahu, Animesh A; Kaur, Savleen S; Sukhija, Jaspreet J; Srivastava, Priyanka P; Kaur, Anupriya A

Publication Date: 2023-03

Variant appearance in text: FBN1: 184C>T

PubMed Link: 36872713

Variant Present in the following documents:

• Main text
• IJO-71-935.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: FBN1: 184C>T; Arg62Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: 184C>T; Arg62Cys

PubMed Link: 36729443

Variant Present in the following documents:

• iovs-64-2-5_s004.xlsx, sheet 1

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: FBN1: 184C>T; R62C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Rare Variants and Polymorphisms of FBN1 Gene May Increase the Risk of Non-Syndromic Aortic Dissection.

Frontiers In Genetics

Pan, Meichen M; Li, Lianjie L; Li, Zehao Z; Chen, Shu S; Li, Zongzhe Z; Wang, Yuning Y; He, Henghui H; Lin, Lihua L; Wang, Haihao H; Liu, Qian Q

Publication Date: 2022

Variant appearance in text: FBN1: R62C

PubMed Link: 35154271

Variant Present in the following documents:

• fgene-13-778806.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: 184C>T

PubMed Link: 34663891

Variant Present in the following documents:

• 41598_2021_99747_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.

The British Journal Of Ophthalmology

Chen, Zexu Z; Chen, Tianhui T; Zhang, Min M; Chen, Jiahui J; Deng, Michael M; Zheng, Jialei J; Lan, Li-Na LN; Jiang, Yongxiang Y

Publication Date: 2022-12

Variant appearance in text: FBN1: 184C>T; R62C

PubMed Link: 34281902

Variant Present in the following documents:

• Main text
• bjophthalmol-2021-319084.pdf
• bjophthalmol-2021-319084supp003.pdf
• bjophthalmol-2021-319084supp004.pdf

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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: 184C>T; Arg62Cys

PubMed Link: 33576469

Variant Present in the following documents:

• Main text
• mmr-23-04-11914.pdf

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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: R62C

PubMed Link: 32404357

Variant Present in the following documents:

• 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: 184C>T; Arg62Cys; rs25403

PubMed Link: 32123317

Variant Present in the following documents:

• 41436_2020_766_MOESM3_ESM.xlsx, sheet 1

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A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics.

Eye (London, England)

Stephenson, Kirk A J KAJ; Dockery, Adrian A; O'Keefe, Michael M; Green, Andrew A; Farrar, G Jane GJ; Keegan, David J DJ

Publication Date: 2020-04

Variant appearance in text: FBN1: Arg62Cys

PubMed Link: 31527767

Variant Present in the following documents:

• 41433_2019_Article_580.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: FBN1: 184C>T; Arg62Cys

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: FBN1: 184C>T; Arg62Cys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Scientific Reports

Yang, Hang H; Luo, Mingyao M; Fu, Yuanyuan Y; Cao, Yandong Y; Yin, Kunlun K; Li, Wenke W; Meng, Chunjie C; Ma, Yanyun Y; Zhang, Jing J; Fan, Yuxin Y; Shu, Chang C; Chang, Qian Q; Zhou, Zhou Z

Publication Date: 2016-09-09

Variant appearance in text: FBN1: 184C>T; Arg62Cys

PubMed Link: 27611364

Variant Present in the following documents:

• Main text
• srep33002.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs25403

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.

Molecular Vision

Li, Jie J; Jia, Xiaoyun X; Li, Shiqiang S; Fang, Shaohua S; Guo, Xiangming X

Publication Date: 2014

Variant appearance in text: FBN1: 184C>T

PubMed Link: 25053872

Variant Present in the following documents:

• Main text
• mv-v20-1017.pdf

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A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.

Molecular Vision

Yang, Guoxing G; Chu, Meifang M; Zhai, Xinling X; Zhao, Jialiang J

Publication Date: 2012

Variant appearance in text: FBN1: R62C

PubMed Link: 22539873

Variant Present in the following documents:

• mv-v18-945.pdf

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Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.

Molecular Vision

Deng, Ting T; Dong, Bing B; Zhang, Xiaohui X; Dai, Hanjun H; Li, Yang Y

Publication Date: 2008-06-30

Variant appearance in text: FBN1: R62C

PubMed Link: 18615205

Variant Present in the following documents:

• Main text
• mv-v14-1229.pdf

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