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: 4987T>C; Cys1663Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias.

Frontiers In Genetics

Arnaud, Pauline P; Mougin, Zakaria Z; Boileau, Catherine C; Le Goff, Carine C

Publication Date: 2021

Variant appearance in text: FBN1: Cys1663Arg

PubMed Link: 34912367

Variant Present in the following documents:

• Main text
• fgene-12-734718.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: C1663R

PubMed Link: 33735269

Variant Present in the following documents:

• Main text
• pone.0248532.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: 4987T>C; Cys1663Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 5
• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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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: 4987T>C; C1663R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.

Molecular Genetics & Genomic Medicine

Gong, Bo B; Yang, Lan L; Wang, Qingwei Q; Ye, Zimeng Z; Guo, Xiaoxin X; Yang, Chen C; Hao, Fang F; Shi, Yi Y; Huang, Yi Y; Qu, Chao C; Yang, Zhenglin Z

Publication Date: 2019-04

Variant appearance in text: FBN1: 4987T>C; C1663R

PubMed Link: 30838813

Variant Present in the following documents:

• Main text

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Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.

Human Mutation

Overwater, Eline E; Marsili, Luisa L; Baars, Marieke J H MJH; Baas, Annette F AF; van de Beek, Irma I; Dulfer, Eelco E; van Hagen, Johanna M JM; Hilhorst-Hofstee, Yvonne Y; Kempers, Marlies M; Krapels, Ingrid P IP; Menke, Leonie A LA; Verhagen, Judith M A JMA; Yeung, Kak K KK; Zwijnenburg, Petra J G PJG; Groenink, Maarten M; van Rijn, Peter P; Weiss, Marjan M MM; Voorhoeve, Els E; van Tintelen, J Peter JP; Houweling, Arjan C AC; Maugeri, Alessandra A

Publication Date: 2018-09

Variant appearance in text: FBN1: 4987T>C; Cys1663Arg

PubMed Link: 29907982

Variant Present in the following documents:

• Main text
• HUMU-39-1173.pdf

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De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Wang, Shuling S; Niu, Ziru Z; Wang, Hui H; Ma, Minyue M; Zhang, Wei W; Fang Wang, Shu S; Wang, Jun J; Yan, Hong H; Liu, Yifan Y; Duan, Na N; Zhang, Xiandong X; Yao, Yuanqing Y

Publication Date: 2017-06-26

Variant appearance in text: FBN1: 4987T>C

PubMed Link: 28650953

Variant Present in the following documents:

• Main text
• medscimonit-23-3136.pdf

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Experimental in vivo and ex vivo models for the study of human aortic dissection: promises and challenges.

American Journal Of Translational Research

Jiang, Ding-Sheng DS; Yi, Xin X; Zhu, Xue-Hai XH; Wei, Xiang X

Publication Date: 2016

Variant appearance in text: FBN1: C1663R

PubMed Link: 28077990

Variant Present in the following documents:

• Main text

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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: rs137854459

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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The clinical spectrum of complete FBN1 allele deletions.

European Journal Of Human Genetics : Ejhg

Hilhorst-Hofstee, Yvonne Y; Hamel, Ben C J BC; Verheij, Joke B G M JB; Rijlaarsdam, Marry E B ME; Mancini, Grazia M S GM; Cobben, Jan M JM; Giroth, Cindy C; Ruivenkamp, Claudia A L CA; Hansson, Kerstin B M KB; Timmermans, Janneke J; Moll, Henriette A HA; Breuning, Martijn H MH; Pals, Gerard G

Publication Date: 2011-03

Variant appearance in text: FBN1: C1663R

PubMed Link: 21063442

Variant Present in the following documents:

• Main text

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: FBN1: C1663R

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 4
• gkn1008_nar-01723-s-2008-File011.xls, sheet 4

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Determination of the molecular basis of Marfan syndrome: a growth industry.

The Journal Of Clinical Investigation

Byers, Peter H PH

Publication Date: 2004-07

Variant appearance in text: FBN1: C1663R

PubMed Link: 15254580

Variant Present in the following documents:

• Main text

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