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: Gly214Ser; rs794728162

PubMed Link: 37042257

Variant Present in the following documents:

• JAH3-12-e028625-s001.pdf
• JAH3-12-e028625.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: 640G>A; Gly214Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: FBN1: 640G>A; Gly214Ser

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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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: 640G>A

PubMed Link: 34663891

Variant Present in the following documents:

• 41598_2021_99747_MOESM2_ESM.xlsx, sheet 1

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Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine

Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J

Publication Date: 2021-10

Variant appearance in text: FBN1: 640G>A; Gly214Ser

PubMed Link: 34498425

Variant Present in the following documents:

• Main text
• MGG3-9-e1800.pdf

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Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine

Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J

Publication Date: 2021-10

Variant appearance in text: FBN1: 640G>A; Gly214Ser

PubMed Link: 34498425

Variant Present in the following documents:

• Main text
• MGG3-9-e1800.pdf

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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: 640G>A; Gly214Ser

PubMed Link: 34281902

Variant Present in the following documents:

• bjophthalmol-2021-319084supp003.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: 640G>A

PubMed Link: 33313099

Variant Present in the following documents:

• atm-08-21-1354-supplementary.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: 640G>A; Gly214Ser; rs794728162

PubMed Link: 32123317

Variant Present in the following documents:

• 41436_2020_766_MOESM3_ESM.xlsx, sheet 1

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Rare genetic variants in patients with cervical artery dissection.

European Stroke Journal

Traenka, Christopher C; Kloss, Manja M; Strom, Tim T; Lyrer, Philippe P; Brandt, Tobias T; Bonati, Leo H LH; Grond-Ginsbach, Caspar C; Engelter, Stefan S

Publication Date: 2019-12

Variant appearance in text: FBN1: Gly214Ser

PubMed Link: 31903434

Variant Present in the following documents:

• Main text

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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: 640G>A; G214S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: FBN1: 640G>A; Gly214Ser

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

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tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine.

Bioinformatics (Oxford, England)

Wei, Chih-Hsuan CH; Phan, Lon L; Feltz, Juliana J; Maiti, Rama R; Hefferon, Tim T; Lu, Zhiyong Z

Publication Date: 2018-01-01

Variant appearance in text: FBN1: 640G>A

PubMed Link: 28968638

Variant Present in the following documents:

• Main text

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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: 640G>A; Gly214Ser

PubMed Link: 27611364

Variant Present in the following documents:

• Main text
• srep33002.pdf

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A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

Human Molecular Genetics

Jensen, Sacha A SA; Iqbal, Sarah S; Bulsiewicz, Alicja A; Handford, Penny A PA

Publication Date: 2015-08-01

Variant appearance in text: FBN1: G214S

PubMed Link: 25979247

Variant Present in the following documents:

• Main text
• ddv181.pdf

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Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.

Molecular Vision

Fu, Qing Q; Liu, Peng P; Lu, Qingsheng Q; Wang, Feng F; Wang, Hui H; Shen, Wei W; Xu, Fei F; Liu, Lin L; Sergeev, Yuri V YV; Sui, Ruifang R

Publication Date: 2014

Variant appearance in text: FBN1: G214S

PubMed Link: 24940037

Variant Present in the following documents:

• Main text
• mv-v20-812.pdf

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A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.

Molecular Vision

Dong, Jiamei J; Bu, Juan J; Du, Wei W; Li, Yuan Y; Jia, Yanlei Y; Li, Jianchang J; Meng, Xiaoli X; Yuan, Minghui M; Peng, Xiaojuan X; Zhou, Aimin A; Wang, Lejin L

Publication Date: 2012

Variant appearance in text: FBN1: G214S

PubMed Link: 22262941

Variant Present in the following documents:

• Main text
• mv-v18-81.pdf

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Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

European Journal Of Human Genetics : Ejhg

Stheneur, Chantal C; Collod-Béroud, Gwenaëlle G; Faivre, Laurence L; Buyck, Jean François JF; Gouya, Laurent L; Le Parc, Jean-Marie JM; Moura, Bertrand B; Muti, Christine C; Grandchamp, Bernard B; Sultan, Gilles G; Claustres, Mireille M; Aegerter, Philippe P; Chevallier, Bertrand B; Jondeau, Guillaume G; Boileau, Catherine C

Publication Date: 2009-09

Variant appearance in text: FBN1: 640G>A

PubMed Link: 19293843

Variant Present in the following documents:

• Main text

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