Publications:

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: F8: R2169C

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Genetic analysis of carrier status in female members of Japanese hemophilia families.

Journal Of Thrombosis And Haemostasis : Jth

Shinozawa, Keiko K; Amano, Kagehiro K; Hagiwara, Takeshi T; Bingo, Masato M; Chikasawa, Yushi Y; Inaba, Hiroshi H; Kinai, Ei E; Fukutake, Katsuyuki K

Publication Date: 2021-06

Variant appearance in text: F8: 6505C>T

PubMed Link: 33760382

Variant Present in the following documents:

• Main text
• JTH-19-1493.pdf

View BVdb publication page

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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: FVIII: R2169C

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A decreased and less sustained desmopressin response in hemophilia A carriers contributes to bleeding.

Blood Advances

Candy, Victoria V; Whitworth, Hilary H; Grabell, Julie J; Thibeault, Lisa L; Harpell, Lori L; Bowman, Mackenzie M; Good, David D; Hopman, Wilma M WM; Sidonio, Robert F RF; James, Paula D PD

Publication Date: 2018-10-23

Variant appearance in text: FVIII: Arg2169Cys

PubMed Link: 30327371

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.

Research And Practice In Thrombosis And Haemostasis

Inaba, Hiroshi H; Shinozawa, Keiko K; Amano, Kagehiro K; Fukutake, Katsuyuki K

Publication Date: 2017-10

Variant appearance in text: F8: 6505C>T; Arg2169Cys

PubMed Link: 30046696

Variant Present in the following documents:

• Main text
• RTH2-1-264.pdf

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: F8: 6505C>T; R2169C

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.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: F8: R2169C

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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