Publications:

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Genetic causes of haemophilia in women and girls.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Miller, Connie H CH; Bean, Christopher J CJ

Publication Date: 2021-03

Variant appearance in text: FVIII: 5096A>T

PubMed Link: 33314404

Variant Present in the following documents:

• Main text

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Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.

Haematologica

Chan, Melissa V MV; Hayman, Melissa A MA; Sivapalaratnam, Suthesh S; Crescente, Marilena M; Allan, Harriet E HE; Edin, Matthew L ML; Zeldin, Darryl C DC; Milne, Ginger L GL; Stephens, Jonathan J; Greene, Daniel D; Hanif, Moghees M; O'Donnell, Valerie B VB; Dong, Liang L; Malkowski, Michael G MG; Lentaigne, Claire C; Wedderburn, Katherine K; Stubbs, Matthew M; Downes, Kate K; Ouwehand, Willem H WH; Turro, Ernest E; BioResource, Nihr N; Hart, Daniel P DP; Freson, Kathleen K; Laffan, Michael A MA; Warner, Timothy D TD

Publication Date: 2021-05-01

Variant appearance in text: F8: 5096A>T; Y1699F; rs28935203

PubMed Link: 32299908

Variant Present in the following documents:

• Main text
• 1061423.pdf

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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: F8: Y1699F

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: F8: 5096A>T; Tyr1699Phe

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

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Combined variants in factor VIII and prostaglandin synthase-1 amplify hemorrhage severity across three generations of descendants.

Journal Of Thrombosis And Haemostasis : Jth

Nance, D D; Campbell, R A RA; Rowley, J W JW; Downie, J M JM; Jorde, L B LB; Kahr, W H WH; Mereby, S A SA; Tolley, N D ND; Zimmerman, G A GA; Weyrich, A S AS; Rondina, M T MT

Publication Date: 2016-11

Variant appearance in text: F8: 5096A>T; rs28935203

PubMed Link: 27629384

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: F8: 5096A>T; Y1699F

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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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: F8: Y1699F; rs28935203

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: F8: Y1699F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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