Publications:

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Classic Thrombophilias and Thrombotic Risk Among Middle-Aged and Older Adults: A Population-Based Cohort Study.

Journal Of The American Heart Association

Manderstedt, Eric E; Lind-Halldén, Christina C; Halldén, Christer C; Elf, Johan J; Svensson, Peter J PJ; Dahlbäck, Björn B; Engström, Gunnar G; Melander, Olle O; Baras, Aris A; Lotta, Luca A LA; Zöller, Bengt B; ,

Publication Date: 2022-02-15

Variant appearance in text: rs41267007

PubMed Link: 35112923

Variant Present in the following documents:

• JAH3-11-e023018-s001.pdf
• JAH3-11-e023018.pdf

View BVdb publication page

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Genetic Variants in the Protein S ( PROS1 ) Gene and Protein S Deficiency in a Danish Population.

Th Open : Companion Journal To Thrombosis And Haemostasis

Larsen, Ole Halfdan OH; Kjaergaard, Alisa D AD; Hvas, Anne-Mette AM; Nissen, Peter H PH

Publication Date: 2021-10

Variant appearance in text: PROS1: Arg233Lys; rs41267007

PubMed Link: 34729451

Variant Present in the following documents:

• Main text
• 10-1055-s-0041-1736636-s210032.pdf
• 10-1055-s-0041-1736636.pdf

View BVdb publication page

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Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments.

Research And Practice In Thrombosis And Haemostasis

Maruyama, Keiko K; Kokame, Koichi K

Publication Date: 2021-01

Variant appearance in text: PROS1: 698G>A; R233K

PubMed Link: 33537542

Variant Present in the following documents:

• Main text
• RTH2-5-179.pdf

View BVdb publication page

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In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer

Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H

Publication Date: 2020-05

Variant appearance in text: rs41267007

PubMed Link: 32457125

Variant Present in the following documents:

• jitc-2019-000204supp003.xlsx, sheet 3

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: PROS1: 698G>A; Arg233Lys; rs41267007

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing in evaluation of patients with venous thromboembolism.

Blood Advances

Lee, Eun-Ju EJ; Dykas, Daniel J DJ; Leavitt, Andrew D AD; Camire, Rodney M RM; Ebberink, Eduard E; García de Frutos, Pablo P; Gnanasambandan, Kavitha K; Gu, Sean X SX; Huntington, James A JA; Lentz, Steven R SR; Mertens, Koen K; Parish, Christopher R CR; Rezaie, Alireza R AR; Sayeski, Peter P PP; Cromwell, Caroline C; Bar, Noffar N; Halene, Stephanie S; Neparidze, Natalia N; Parker, Terri L TL; Burns, Adrienne J AJ; Dumont, Anne A; Yao, Xiaopan X; Chaar, Cassius Iyad Ochoa CIO; Connors, Jean M JM; Bale, Allen E AE; Lee, Alfred Ian AI

Publication Date: 2017-07-11

Variant appearance in text: PROS1: R233K

PubMed Link: 29296762

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: PROS1: R233K; rs41267007

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: PROS1: 698G>A; R233K; rs41267007

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: PROS1: R233K; rs41267007

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: PROS1: R233K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs41267007

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs41267007

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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