Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: VWF: A1377V; rs141211612

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications

Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA

Publication Date: 2022-05-03

Variant appearance in text: VWF: Ala1377Val; rs141211612

PubMed Link: 35504881

Variant Present in the following documents:

• 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Blood Advances

Seidizadeh, Omid O; Baronciani, Luciano L; Pagliari, Maria Teresa MT; Cozzi, Giovanna G; Colpani, Paola P; Cairo, Andrea A; Siboni, Simona Maria SM; Biguzzi, Eugenia E; Peyvandi, Flora F

Publication Date: 2022-07-12

Variant appearance in text: VWF: A1377V

PubMed Link: 35452508

Variant Present in the following documents:

• Main text
• advancesADV2022007216-suppl1.pdf
• advancesADV2022007216.pdf

View BVdb publication page

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Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.

Blood Advances

Kalot, Mohamad A MA; Husainat, Nedaa N; Abughanimeh, Omar O; Diab, Osama O; El Alayli, Abdallah A; Tayiem, Sammy S; Madoukh, Bader B; Dimassi, Ahmad A; Qureini, Aref A; Ameer, Barbara B; Eikenboom, Jeroen J; Giraud, Nicolas N; Haberichter, Sandra S; Jacobs-Pratt, Vicky V; Konkle, Barbara A BA; McRae, Simon S; Montgomery, Robert R; O'Donnell, James S JS; Brignardello-Petersen, Romina R; Flood, Veronica V; Connell, Nathan T NT; James, Paula P; Mustafa, Reem A RA

Publication Date: 2022-06-28

Variant appearance in text: VWF: Ala1377Val

PubMed Link: 35192687

Variant Present in the following documents:

• advancesADV2021005431C-suppl1.pdf

View BVdb publication page

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The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Pagliari, Maria Teresa MT; Baronciani, Luciano L; Cordiglieri, Chiara C; Colpani, Paola P; Cozzi, Giovanna G; Siboni, Simona M SM; Peyvandi, Flora F

Publication Date: 2022-03

Variant appearance in text: VWF: Ala1377Val

PubMed Link: 35064738

Variant Present in the following documents:

• HAE-28-292.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: VWF: A1377V

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.

American Journal Of Human Genetics

Kolvenbach, Caroline M CM; Dworschak, Gabriel C GC; Frese, Sandra S; Japp, Anna S AS; Schuster, Peggy P; Wenzlitschke, Nina N; Yilmaz, Öznur Ö; Lopes, Filipa M FM; Pryalukhin, Alexey A; Schierbaum, Luca L; van der Zanden, Loes F M LFM; Kause, Franziska F; Schneider, Ronen R; Taranta-Janusz, Katarzyna K; Szczepańska, Maria M; Pawlaczyk, Krzysztof K; Newman, William G WG; Beaman, Glenda M GM; Stuart, Helen M HM; Cervellione, Raimondo M RM; Feitz, Wouter F J WFJ; van Rooij, Iris A L M IALM; Schreuder, Michiel F MF; Steffens, Martijn M; Weber, Stefanie S; Merz, Waltraut M WM; Feldkötter, Markus M; Hoppe, Bernd B; Thiele, Holger H; Altmüller, Janine J; Berg, Christoph C; Kristiansen, Glen G; Ludwig, Michael M; Reutter, Heiko H; Woolf, Adrian S AS; Hildebrandt, Friedhelm F; Grote, Phillip P; Zaniew, Marcin M; Odermatt, Benjamin B; Hilger, Alina C AC

Publication Date: 2019-05-02

Variant appearance in text: VWF: 4130C>T

PubMed Link: 31051115

Variant Present in the following documents:

• mmc3.pdf
• mmc1.pdf

View BVdb publication page

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Combined effects of two mutations in von Willebrand disease 2M phenotype.

Research And Practice In Thrombosis And Haemostasis

Woods, Adriana I AI; Paiva, Juvenal J; Kempfer, Ana C AC; Primrose, Debora M DM; Blanco, Alicia N AN; Sanchez-Luceros, Analía A; Lazzari, María A MA

Publication Date: 2018-01

Variant appearance in text: VWF: Ala1377Val

PubMed Link: 30046717

Variant Present in the following documents:

• Main text
• RTH2-2-162.pdf

View BVdb publication page

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Group association test using a hidden Markov model.

Biostatistics (Oxford, England)

Cheng, Yichen Y; Dai, James Y JY; Kooperberg, Charles C

Publication Date: 2016-04

Variant appearance in text: VWF: Ala1377Val; rs141211612

PubMed Link: 26420797

Variant Present in the following documents:

• Main text

View BVdb publication page

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A variational Bayes discrete mixture test for rare variant association.

Genetic Epidemiology

Logsdon, Benjamin A BA; Dai, James Y JY; Auer, Paul L PL; Johnsen, Jill M JM; Ganesh, Santhi K SK; Smith, Nicholas L NL; Wilson, James G JG; Tracy, Russell P RP; Lange, Leslie A LA; Jiao, Shuo S; Rich, Stephen S SS; Lettre, Guillaume G; Carlson, Christopher S CS; Jackson, Rebecca D RD; O'Donnell, Christopher J CJ; Wurfel, Mark M MM; Nickerson, Deborah A DA; Tang, Hua H; Reiner, Alexander P AP; Kooperberg, Charles C; ,

Publication Date: 2014-01

Variant appearance in text: VWF: Ala1377Val; rs141211612

PubMed Link: 24482836

Variant Present in the following documents:

• Main text

View BVdb publication page

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