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: 2581C>T; Arg861Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Meester, Josephina A N JAN; Peeters, Silke S; Van Den Heuvel, Lotte L; Vandeweyer, Geert G; Fransen, Erik E; Cappella, Elizabeth E; Dietz, Harry C HC; Forbus, Geoffrey G; Gelb, Bruce D BD; Goldmuntz, Elizabeth E; Hoskoppal, Arvind A; Landstrom, Andrew P AP; Lee, Teresa T; Mital, Seema S; Morris, Shaine S; Olson, Aaron K AK; Renard, Marjolijn M; Roden, Dan M DM; Singh, Michael N MN; Selamet Tierney, Elif Seda ES; Tretter, Justin T JT; Van Driest, Sara L SL; Willing, Marcia M; Verstraeten, Aline A; Van Laer, Lut L; Lacro, Ronald V RV; Loeys, Bart L BL

Publication Date: 2022-05

Variant appearance in text: FBN1: 2581C>T; Arg861*

PubMed Link: 35058154

Variant Present in the following documents:

• NIHMS1850106-supplement-Supplemental_Table_1a.xlsx, sheet 1

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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: 2581C>T; Arg861*; rs140583

PubMed Link: 34916231

Variant Present in the following documents:

• jmedgenet-2021-108186supp001.pdf

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: FBN1: 2581C>T; R861*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: FBN1: 2581C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Weerakkody, Ruwan R; Ross, David D; Parry, David A DA; Ziganshin, Bulat B; Vandrovcova, Jana J; Gampawar, Piyush P; Abdullah, Abdulshakur A; Biggs, Jennifer J; Dumfarth, Julia J; Ibrahim, Yousef Y; , ; Bicknell, Colin C; Field, Mark M; Elefteriades, John J; Cheshire, Nick N; Aitman, Timothy J TJ

Publication Date: 2018-11

Variant appearance in text: FBN1: 2581C>T; Arg861Ter

PubMed Link: 29543232

Variant Present in the following documents:

• Main text
• emss-76135.pdf

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Recapitulating and Correcting Marfan Syndrome in a Cellular Model.

International Journal Of Biological Sciences

Park, Jung Woo JW; Yan, Li L; Stoddard, Chris C; Wang, Xiaofang X; Yue, Zhichao Z; Crandall, Leann L; Robinson, Tiwanna T; Chang, Yuxiao Y; Denton, Kyle K; Li, Enqin E; Jiang, Bin B; Zhang, Zhenwu Z; Martins-Taylor, Kristen K; Yee, Siu-Pok SP; Nie, Hong H; Gu, Feng F; Si, Wei W; Xie, Ting T; Yue, Lixia L; Xu, Ren-He RH

Publication Date: 2017

Variant appearance in text: FBN1: R861X

PubMed Link: 28539832

Variant Present in the following documents:

• Main text
• ijbsv13p0588.pdf

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Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: FBN1: R861X

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

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Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.

Scientific Reports

Guo, Jun J; Cai, Lun L; Jia, Lixin L; Li, Xiaoyan X; Xi, Xin X; Zheng, Shuai S; Liu, Xuxia X; Piao, Chunmei C; Liu, Tingting T; Sun, Zhongsheng Z; Cai, Tao T; Du, Jie J

Publication Date: 2015-08-14

Variant appearance in text: FBN1: 2581C>T; Arg861X; rs140583

PubMed Link: 26272055

Variant Present in the following documents:

• Main text
• srep13115.pdf
• srep13115-s1.pdf

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Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.

Nature Genetics

Schulze, Kornelius K; Imbeaud, Sandrine S; Letouzé, Eric E; Alexandrov, Ludmil B LB; Calderaro, Julien J; Rebouissou, Sandra S; Couchy, Gabrielle G; Meiller, Clément C; Shinde, Jayendra J; Soysouvanh, Frederic F; Calatayud, Anna-Line AL; Pinyol, Roser R; Pelletier, Laura L; Balabaud, Charles C; Laurent, Alexis A; Blanc, Jean-Frederic JF; Mazzaferro, Vincenzo V; Calvo, Fabien F; Villanueva, Augusto A; Nault, Jean-Charles JC; Bioulac-Sage, Paulette P; Stratton, Michael R MR; Llovet, Josep M JM; Zucman-Rossi, Jessica J

Publication Date: 2015-05

Variant appearance in text: FBN1: R861X

PubMed Link: 25822088

Variant Present in the following documents:

• NIHMS62359-supplement-Table3.xlsx, sheet 1

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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: R861X

PubMed Link: 17850668

Variant Present in the following documents:

• Main text

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Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

American Journal Of Human Genetics

Schrijver, Iris I; Liu, Wanguo W; Odom, Raanan R; Brenn, Thomas T; Oefner, Peter P; Furthmayr, Heinz H; Francke, Uta U

Publication Date: 2002-08

Variant appearance in text: FBN1: R861X

PubMed Link: 12068374

Variant Present in the following documents:

• Main text

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