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: 3350G>A; Cys1117Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The Molecular Genetics of Marfan Syndrome.

International Journal Of Medical Sciences

Du, Qiu Q; Zhang, Dingding D; Zhuang, Yue Y; Xia, Qiongrong Q; Wen, Taishen T; Jia, Haiping H

Publication Date: 2021

Variant appearance in text: FBN1: C1117Y

PubMed Link: 34220303

Variant Present in the following documents:

• Main text
• ijmsv18p2752.pdf

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Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

Plos One

Jensen, Sacha A SA; Atwa, Ondine O; Handford, Penny A PA

Publication Date: 2021

Variant appearance in text: FBN1: 3350G>A; Cys1117Tyr

PubMed Link: 33735269

Variant Present in the following documents:

• pone.0248532.s001.xlsx, sheet 1

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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: 3350G>A; C1117Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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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: 3350G>A; C1117Y

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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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: rs137854470

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: C1117Y

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

European Journal Of Human Genetics : Ejhg

Faivre, L L; Collod-Beroud, G G; Callewaert, B B; Child, A A; Binquet, C C; Gautier, E E; Loeys, B L BL; Arbustini, E E; Mayer, K K; Arslan-Kirchner, M M; Stheneur, C C; Kiotsekoglou, A A; Comeglio, P P; Marziliano, N N; Wolf, J E JE; Bouchot, O O; Khau-Van-Kien, P P; Beroud, C C; Claustres, M M; Bonithon-Kopp, C C; Robinson, P N PN; Adès, L L; De Backer, J J; Coucke, P P; Francke, U U; De Paepe, A A; Jondeau, G G; Boileau, C C

Publication Date: 2009-04

Variant appearance in text: FBN1: 3350G>A; Cys1117Tyr

PubMed Link: 19002209

Variant Present in the following documents:

• Main text

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A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.

Bmc Genomics

Yao, Zizhen Z; Jaeger, Jochen C JC; Ruzzo, Walter L WL; Morale, Cecile Z CZ; Emond, Mary M; Francke, Uta U; Milewicz, Dianna M DM; Schwartz, Stephen M SM; Mulvihill, Eileen R ER

Publication Date: 2007-09-12

Variant appearance in text: FBN1: C1117Y

PubMed Link: 17850668

Variant Present in the following documents:

• Main text

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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: C1117Y

PubMed Link: 16571647

Variant Present in the following documents:

• Main text

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