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: 5096A>G; Tyr1699Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: FBN1: 5096A>G; Tyr1699Cys

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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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: 5096A>G; Y1699C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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A Review of Three Chinese Cases of Acromicric/Geleophysic Dysplasia with FBN1 Mutations.

International Journal Of General Medicine

Shan, Yan-Chun YC; Yang, Zhao-Chuan ZC; Ma, Liang L; Ran, Ni N; Feng, Xue-Ying XY; Liu, Xiao-Mei XM; Fu, Peng P; Yi, Ming-Ji MJ

Publication Date: 2021

Variant appearance in text: FBN1: Y1699C

PubMed Link: 34040419

Variant Present in the following documents:

• Main text
• ijgm-14-1873.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: FBN1: 5096A>G; Tyr1699Cys

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: FBN1: 5096A>G; Y1699C; rs387906622

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, sheet 1

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Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

Plos One

Cain, Stuart A SA; McGovern, Amanda A; Baldwin, Andrew K AK; Baldock, Clair C; Kielty, Cay M CM

Publication Date: 2012

Variant appearance in text: FBN1: Y1699C

PubMed Link: 23133647

Variant Present in the following documents:

• Main text
• pone.0048634.pdf

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Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

American Journal Of Human Genetics

Le Goff, Carine C; Mahaut, Clémentine C; Wang, Lauren W LW; Allali, Slimane S; Abhyankar, Avinash A; Jensen, Sacha S; Zylberberg, Louise L; Collod-Beroud, Gwenaelle G; Bonnet, Damien D; Alanay, Yasemin Y; Brady, Angela F AF; Cordier, Marie-Pierre MP; Devriendt, Koen K; Genevieve, David D; Kiper, Pelin Özlem Simsek PÖ; Kitoh, Hiroshi H; Krakow, Deborah D; Lynch, Sally Ann SA; Le Merrer, Martine M; Mégarbane, André A; Mortier, Geert G; Odent, Sylvie S; Polak, Michel M; Rohrbach, Marianne M; Sillence, David D; Stolte-Dijkstra, Irene I; Superti-Furga, Andrea A; Rimoin, David L DL; Topouchian, Vicken V; Unger, Sheila S; Zabel, Bernhard B; Bole-Feysot, Christine C; Nitschke, Patrick P; Handford, Penny P; Casanova, Jean-Laurent JL; Boileau, Catherine C; Apte, Suneel S SS; Munnich, Arnold A; Cormier-Daire, Valérie V

Publication Date: 2011-07-15

Variant appearance in text: FBN1: 5096A>G

PubMed Link: 21683322

Variant Present in the following documents:

• Main text

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