Publications:

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Extracellular matrix and vascular dynamics in the kidney of a murine model for Marfan syndrome.

Plos One

de Souza, Rodrigo Barbosa RB; Lemes, Renan Barbosa RB; Foresto-Neto, Orestes O; Cassiano, Luara Lucena LL; Reinhardt, Dieter P DP; Meek, Keith M KM; Koh, Ivan Hong Jun IHJ; Lewis, Philip N PN; Pereira, Lygia V LV

Publication Date: 2023

Variant appearance in text: FBN1: Glu1073Lys

PubMed Link: 37159453

Variant Present in the following documents:

• Main text
• pone.0285418.pdf

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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: 3217G>A; Glu1073Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: FBN1: 3217G>A; E1073K

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: FBN1: 3217G>A; Glu1073Lys

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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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: 3217G>A; Glu1073Lys

PubMed Link: 34281902

Variant Present in the following documents:

• bjophthalmol-2021-319084supp003.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: 3217G>A; Glu1073Lys

PubMed Link: 33735269

Variant Present in the following documents:

• pone.0248532.s001.xlsx, sheet 1

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A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report.

Bmc Medical Genetics

Niu, Yuping Y; Huang, Sexin S; Wang, Zeyu Z; Xu, Peiwen P; Wang, Lijuan L; Li, Jie J; Gao, Ming M; Gao, Xuan X; Gao, Yuan Y

Publication Date: 2020-10-21

Variant appearance in text: FBN1: Glu1073Lys; rs137854478

PubMed Link: 33087052

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 3217G>A; E1073K

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: FBN1: 3217G>A; E1073K

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: FBN1: 3217G>A; Glu1073Lys

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

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Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

Molecular Genetics & Genomic Medicine

Brunelli, Luca L; Jenkins, Sabrina M SM; Gudgeon, James M JM; Bleyl, Steven B SB; Miller, Christine E CE; Tvrdik, Tatiana T; Dames, Shale A SA; Ostrander, Betsy B; Daboub, Josue A F JAF; Zielinski, Brandon A BA; Zinkhan, Erin K EK; Underhill, Hunter R HR; Wilson, Theodore T; Bonkowsky, Joshua L JL; Yost, Christian C CC; Botto, Lorenzo D LD; Jenkins, Justin J; Pysher, Theodore J TJ; Bayrak-Toydemir, Pinar P; Mao, Rong R

Publication Date: 2019-07

Variant appearance in text: FBN1: 3217G>A; Glu1073Lys

PubMed Link: 31192527

Variant Present in the following documents:

• Main text
• MGG3-7-e00796.pdf

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: FBN1: 3217G>A; Glu1073Lys

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: FBN1: 3217G>A; Glu1073Lys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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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: 3217G>A; Glu1073Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea.

Journal Of Korean Medical Science

Heo, Ju Sun JS; Song, Joo Young JY; Choi, Eun Young EY; Kim, Eun Hee EH; Kim, Ji Hee JH; Park, So Eun SE; Jeon, Ji Hyun JH

Publication Date: 2017-01

Variant appearance in text: FBN1: 3217G>A; E1073K

PubMed Link: 27914124

Variant Present in the following documents:

• Main text
• jkms-32-1.pdf

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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: rs137854478

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.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: 3217G>A; Glu1073Lys

PubMed Link: 19002209

Variant Present in the following documents:

• Main text

View BVdb publication page

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