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: 4930C>T; Arg1644Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.

Biomedicines

Morgan, Anna A; Faletra, Flavio F; Severi, Giulia G; La Bianca, Martina M; Licchetta, Laura L; Gasparini, Paolo P; Graziano, Claudio C; Girotto, Giorgia G

Publication Date: 2021-12-22

Variant appearance in text: FBN1: 4930C>T; Arg1644*

PubMed Link: 35052694

Variant Present in the following documents:

• Main text
• biomedicines-10-00012.pdf

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There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.

Biomedicines

Morgan, Anna A; Faletra, Flavio F; Severi, Giulia G; La Bianca, Martina M; Licchetta, Laura L; Gasparini, Paolo P; Graziano, Claudio C; Girotto, Giorgia G

Publication Date: 2021-12-22

Variant appearance in text: FBN1: 4930C>T; Arg1644*

PubMed Link: 35052694

Variant Present in the following documents:

• Main text
• biomedicines-10-00012.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: 4930C>T; Arg1644*; rs140630

PubMed Link: 34916231

Variant Present in the following documents:

• jmedgenet-2021-108186supp001.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: 4930C>T; Arg1644Ter

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: 4930C>T; Arg1644Ter

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: 4930C>T

PubMed Link: 34281902

Variant Present in the following documents:

• bjophthalmol-2021-319084supp003.pdf

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[Gene mutation analysis of 19 Uighur families with aortic disease in Kashgar, China].

Nan Fang Yi Ke Da Xue Xue Bao = Journal Of Southern Medical University

Yu, Changjiang C; Li, Ying Y; Adilijang, Abuduresuli A; Yan, Jizhong J; Guzalnur, Arkin A; Abudushalamu, Abudula A; Aimirela, Yimamu Y; Fan, Ruixin R

Publication Date: 2020-11-30

Variant appearance in text: FBN1: 4930C>T; R1644X

PubMed Link: 33243733

Variant Present in the following documents:

• Main text

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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: 4930C>T; R1644*

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: 4930C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis.

Plos One

Gentilini, Davide D; Oliveri, Antonino A; Fazia, Teresa T; Pini, Alessandro A; Marelli, Susan S; Bernardinelli, Luisa L; Di Blasio, Anna Maria AM

Publication Date: 2019

Variant appearance in text: FBN1: R1644X

PubMed Link: 31536524

Variant Present in the following documents:

• pone.0222506.s004.xlsx, sheet 1

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The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums.

Medicine

Seo, Go Hun GH; Kim, Yoon-Myung YM; Kang, Eungu E; Kim, Gu-Hwan GH; Seo, Eul-Ju EJ; Lee, Beom Hee BH; Choi, Jin-Ho JH; Yoo, Han-Wook HW

Publication Date: 2018-05

Variant appearance in text: FBN1: 4930C>T

PubMed Link: 29768367

Variant Present in the following documents:

• medi-97-e10767.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: FBN1: 4930C>T; Arg1644Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: FBN1: 4930C>T; R1644*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

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Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

Bonekey Reports

McInerney-Leo, Aideen M AM; Marshall, Mhairi S MS; Gardiner, Brooke B; Coucke, Paul J PJ; Van Laer, Lut L; Loeys, Bart L BL; Summers, Kim M KM; Symoens, Sofie S; West, Jennifer A JA; West, Malcolm J MJ; Paul Wordsworth, B B; Zankl, Andreas A; Leo, Paul J PJ; Brown, Matthew A MA; Duncan, Emma L EL

Publication Date: 2013

Variant appearance in text: FBN1: 4930C>T; R1644*; rs140630

PubMed Link: 24501682

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: R1644X

PubMed Link: 12068374

Variant Present in the following documents:

• Main text

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