Publications:

---

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics

Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK

Publication Date: 2023-03-27

Variant appearance in text: VWF: 5191T>A; Ser1731Thr; rs61750603

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: VWF: S1731T; rs61750603

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

---

Von Willebrand disease type 2M: Correlation between genotype and phenotype.

Journal Of Thrombosis And Haemostasis : Jth

Maas, Dominique P M S M DPMSM; Atiq, Ferdows F; Blijlevens, Nicole M A NMA; Brons, Paul P T PPT; Krouwel, Sandy S; Laros-van Gorkom, Britta A P BAP; Leebeek, Frank W G FWG; Nieuwenhuizen, Laurens L; Schoormans, Selene C M SCM; Simons, Annet A; Meijer, Daniëlle D; van Heerde, Waander L WL; Schols, Saskia E M SEM

Publication Date: 2022-02

Variant appearance in text: VWF: Ser1731Thr

PubMed Link: 34758185

Variant Present in the following documents:

• Main text
• JTH-20-316.pdf

View BVdb publication page

---

Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Plos One

Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F

Publication Date: 2021

Variant appearance in text: VWF: S1731T; rs61750603

PubMed Link: 34662354

Variant Present in the following documents:

• pone.0258675.s002.pdf

View BVdb publication page

---

New developments in von Willebrand disease.

British Journal Of Haematology

Fogarty, Helen H; Doherty, Dearbhla D; O'Donnell, James S JS

Publication Date: 2020-11

Variant appearance in text: VWF: Ser1731Thr

PubMed Link: 32394456

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: VWF: 5191T>A; rs61750603

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: VWF: 5191T>A

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

---

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.

Cold Spring Harbor Molecular Case Studies

Okur, Volkan V; LeDuc, Charles A CA; Guzman, Edwin E; Valivullah, Zaheer M ZM; Anyane-Yeboa, Kwame K; Chung, Wendy K WK

Publication Date: 2019-06

Variant appearance in text: VWF: 5191T>A; Ser1731Thr; rs61750603

PubMed Link: 31010896

Variant Present in the following documents:

• supp_mcs.a004101_Supplemental_Table_S1.xlsx, sheet 1

View BVdb publication page

---

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.

Npj Genomic Medicine

Owaidah, Tarek T; Saleh, Mahasen M; Baz, Batoul B; Abdulaziz, Basma B; Alzahrani, Hazza H; Tarawah, Ahmed A; Almusa, Abdulrahman A; AlNounou, Randa R; AbaAlkhail, Hala H; Al-Numair, Nouf N; Altahan, Rahaf R; Abouelhoda, Mohammed M; Alamoudi, Thamer T; Monies, Dorota D; Jabaan, Amjad A; Al Tassan, Nada N

Publication Date: 2019

Variant appearance in text: VWF: 5191T>A; S1731T

PubMed Link: 30792900

Variant Present in the following documents:

• Main text
• 41525_2019_Article_79.pdf

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: VWF: S1731T; rs61750603

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Current issues in diagnosis and treatment of von Willebrand disease.

Research And Practice In Thrombosis And Haemostasis

Keesler, Daniel A DA; Flood, Veronica H VH

Publication Date: 2018-01

Variant appearance in text: VWF: Ser1731Thr

PubMed Link: 30046704

Variant Present in the following documents:

• Main text
• RTH2-2-34.pdf

View BVdb publication page

---

Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.

Plos One

Pérez-Rodríguez, Almudena A; Batlle, Javier J; Corrales, Irene I; Borràs, Nina N; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Parra, Rafael R; Mingot-Castellano, María Eva ME; Navarro, Nira N; Altisent, Carmen C; Pérez-Montes, Rocío R; Marcellini, Shally S; Moreto, Ana A; Herrero, Sonia S; Soto, Inmaculada I; Fernández Mosteirín, Nuria N; Jiménez-Yuste, Víctor V; Alonso, Nieves N; de Andrés Jacob, Aurora A; Fontanes, Emilia E; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Rubén R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Castro Quismondo, Nerea N; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; Tenorio, Maria M; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Dobón, Manuela M; Aguilar, Carlos C; Batlle, Fernando F; Vidal, Francisco F; López-Fernández, María Fernanda MF

Publication Date: 2018

Variant appearance in text: VWF: Ser1731Thr

PubMed Link: 29924855

Variant Present in the following documents:

• Main text
• pone.0197876.pdf

View BVdb publication page

---

Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: VWF: 5191T>A; rs61750603

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Haematologica

Borràs, Nina N; Batlle, Javier J; Pérez-Rodríguez, Almudena A; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Parra, Rafael R; Mingot-Castellano, María Eva ME; Balda, Ignacia I; Altisent, Carme C; Pérez-Montes, Rocío R; Fisac, Rosa María RM; Iruín, Gemma G; Herrero, Sonia S; Soto, Inmaculada I; de Rueda, Beatriz B; Jiménez-Yuste, Víctor V; Alonso, Nieves N; Vilariño, Dolores D; Arija, Olga O; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Rubén R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Sarmiento, Lizheidy L; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; César, Jesús María JM; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Cornudella, Rosa R; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I

Publication Date: 2017-12

Variant appearance in text: VWF: Ser1731Thr

PubMed Link: 28971901

Variant Present in the following documents:

• Main text
• 1022005.pdf
• 2017.168765.BORRAS_SUPPL.pdf

View BVdb publication page

---

Crucial role for the VWF A1 domain in binding to type IV collagen.

Blood

Flood, Veronica H VH; Schlauderaff, Abraham C AC; Haberichter, Sandra L SL; Slobodianuk, Tricia L TL; Jacobi, Paula M PM; Bellissimo, Daniel B DB; Christopherson, Pamela A PA; Friedman, Kenneth D KD; Gill, Joan Cox JC; Hoffmann, Raymond G RG; Montgomery, Robert R RR; ,

Publication Date: 2015-04-02

Variant appearance in text: VWF: S1731T

PubMed Link: 25662333

Variant Present in the following documents:

• Main text

View BVdb publication page

---

De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: VWF: S1731T

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 40

View BVdb publication page

---

Analysis of the role of von Willebrand factor, platelet glycoprotein VI-, and α2β1-mediated collagen binding in thrombus formation.

Blood

Shida, Yasuaki Y; Rydz, Natalia N; Stegner, David D; Brown, Christine C; Mewburn, Jeffrey J; Sponagle, Kate K; Danisment, Ozge O; Crawford, Bredon B; Vidal, Barbara B; Hegadorn, Carol A CA; Pruss, Cynthia M CM; Nieswandt, Bernhard B; Lillicrap, David D

Publication Date: 2014-09-11

Variant appearance in text: VWF: S1731T

PubMed Link: 25051961

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The molecular genetics of von Willebrand disease.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology

Berber, Ergül E

Publication Date: 2012-12

Variant appearance in text: VWF: S1731T

PubMed Link: 24385719

Variant Present in the following documents:

• Main text
• TJH-29-313.pdf

View BVdb publication page

---

Translational medicine advances in von Willebrand disease.

Journal Of Thrombosis And Haemostasis : Jth

Lillicrap, D D

Publication Date: 2013-06

Variant appearance in text: VWF: S1731T

PubMed Link: 23809112

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The molecular characterization of von Willebrand disease: good in parts.

British Journal Of Haematology

James, P D PD; Lillicrap, D D

Publication Date: 2013-04

Variant appearance in text: VWF: S1731T

PubMed Link: 23406206

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.

Journal Of Thrombosis And Haemostasis : Jth

Wang, Q Y QY; Song, J J; Gibbs, R A RA; Boerwinkle, E E; Dong, J F JF; Yu, F L FL

Publication Date: 2013-02

Variant appearance in text: VWF: S1731T

PubMed Link: 23216583

Variant Present in the following documents:

• Main text

View BVdb publication page

---

von Willebrand disease: clinical and laboratory lessons learned from the large von Willebrand disease studies.

American Journal Of Hematology

James, Paula D PD; Lillicrap, David D

Publication Date: 2012-05

Variant appearance in text: VWF: S1731T

PubMed Link: 22389132

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD.

Journal Of Thrombosis And Haemostasis : Jth

Flood, V H VH; Lederman, C A CA; Wren, J S JS; Christopherson, P A PA; Friedman, K D KD; Hoffmann, R G RG; Montgomery, R R RR

Publication Date: 2010-06

Variant appearance in text: VWF: S1731T

PubMed Link: 20345715

Variant Present in the following documents:

• Main text

View BVdb publication page

---