Publications:

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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: 1879C>T; Arg627Cys

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: 1879C>T; Arg627Cys

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.

Journal Of Translational Medicine

Ponińska, Joanna Kinga JK; Bilińska, Zofia Teresa ZT; Truszkowska, Grażyna G; Michalak, Ewa E; Podgórska, Anna A; Stępień-Wojno, Małgorzata M; Chmielewski, Przemysław P; Lutyńska, Anna A; Płoski, Rafał R

Publication Date: 2022-01-25

Variant appearance in text: FBN1: 1879C>T; Arg627Cys

PubMed Link: 35078481

Variant Present in the following documents:

• 12967_2022_3251_MOESM1_ESM.pdf

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Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.

Journal Of Medical Genetics

Taniguchi, Yuki Y; Takeda, Norifumi N; Inuzuka, Ryo R; Matsubayashi, Yoshitaka Y; Kato, So S; Doi, Toru T; Yagi, Hiroki H; Yamauchi, Haruo H; Ando, Masahiko M; Oshima, Yasushi Y; Tanaka, Sakae S

Publication Date: 2021-12-16

Variant appearance in text: FBN1: 1879C>T; Arg627Cys; rs727503057

PubMed Link: 34916231

Variant Present in the following documents:

• jmedgenet-2021-108186supp001.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: 1879C>T; Arg627Cys

PubMed Link: 34281902

Variant Present in the following documents:

• bjophthalmol-2021-319084supp004.pdf
• bjophthalmol-2021-319084supp003.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: 1879C>T; Arg627Cys

PubMed Link: 33576469

Variant Present in the following documents:

• Main text
• mmr-23-04-11914.pdf

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: FBN1: 1879C>T; R627C

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

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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: 1879C>T

PubMed Link: 33313099

Variant Present in the following documents:

• atm-08-21-1354-supplementary.pdf

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99-Case Study of Sporadic Aortic Dissection by Whole Exome Sequencing Indicated Novel Disease-Associated Genes and Variants in Chinese Population.

Biomed Research International

Wang, Zanxin Z; Zhuang, Xianmian X; Chen, Bailang B; Wen, Junmin J; Peng, Fang F; Liu, Xiling X; Wei, Minxin M

Publication Date: 2020

Variant appearance in text: rs727503057

PubMed Link: 33083483

Variant Present in the following documents:

• Main text
• BMRI2020-7857043.pdf

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Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.

Orphanet Journal Of Rare Diseases

Stengl, Roland R; Bors, András A; Ágg, Bence B; Pólos, Miklós M; Matyas, Gabor G; Molnár, Mária Judit MJ; Fekete, Bálint B; Csabán, Dóra D; Andrikovics, Hajnalka H; Merkely, Béla B; Radovits, Tamás T; Szabolcs, Zoltán Z; Benke, Kálmán K

Publication Date: 2020-10-15

Variant appearance in text: FBN1: 1879C>T; Arg627Cys

PubMed Link: 33059708

Variant Present in the following documents:

• 13023_2020_1569_MOESM1_ESM.pdf

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Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.

Molecular Genetics & Genomic Medicine

Bitarafan, Fatemeh F; Razmara, Ehsan E; Khodaeian, Mehrnoosh M; Keramatipour, Mohammad M; Kalhor, Alireza A; Jafarinia, Ehsan E; Garshasbi, Masoud M

Publication Date: 2020-08

Variant appearance in text: FBN1: 1879C>T; Arg627Cys

PubMed Link: 32431097

Variant Present in the following documents:

• Main text
• MGG3-8-e1274.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: 1879C>T; Arg627Cys

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: FBN1: R627C

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: FBN1: 1879C>T; R627C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Orphanet Journal Of Rare Diseases

Campens, Laurence L; Callewaert, Bert B; Muiño Mosquera, Laura L; Renard, Marjolijn M; Symoens, Sofie S; De Paepe, Anne A; Coucke, Paul P; De Backer, Julie J

Publication Date: 2015-02-03

Variant appearance in text: FBN1: 1879C>T; Arg627Cys

PubMed Link: 25644172

Variant Present in the following documents:

• Main text
• 13023_2014_Article_221.pdf

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: FBN1: R627C

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: FBN1: R627C

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.

The Journal Of Biological Chemistry

Kirschner, Ryan R; Hubmacher, Dirk D; Iyengar, Garud G; Kaur, Jasvir J; Fagotto-Kaufmann, Christine C; Brömme, Dieter D; Bartels, Rainer R; Reinhardt, Dieter P DP

Publication Date: 2011-09-16

Variant appearance in text: FBN1: R627C

PubMed Link: 21784848

Variant Present in the following documents:

• Main text

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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: R627C

PubMed Link: 18615205

Variant Present in the following documents:

• Main text
• mv-v14-1229.pdf

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The molecular genetics of Marfan syndrome and related disorders.

Journal Of Medical Genetics

Robinson, P N PN; Arteaga-Solis, E E; Baldock, C C; Collod-Béroud, G G; Booms, P P; De Paepe, A A; Dietz, H C HC; Guo, G G; Handford, P A PA; Judge, D P DP; Kielty, C M CM; Loeys, B B; Milewicz, D M DM; Ney, A A; Ramirez, F F; Reinhardt, D P DP; Tiedemann, K K; Whiteman, P P; Godfrey, M M

Publication Date: 2006-10

Variant appearance in text: FBN1: R627C

PubMed Link: 16571647

Variant Present in the following documents:

• Main text

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