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: T346I; rs111971143

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.

Research And Practice In Thrombosis And Haemostasis

Vangenechten, Inge I; Gadisseur, Alain A

Publication Date: 2020-08

Variant appearance in text: VWF: Thr346Ile

PubMed Link: 32864553

Variant Present in the following documents:

• RTH2-4-1024-s004.xlsx, sheet 1

View BVdb publication page

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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: 1037C>T; Thr346Ile; rs111971143

PubMed Link: 31010896

Variant Present in the following documents:

• supp_mcs.a004101_Supplemental_Table_S1.xlsx, sheet 1

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: VWF: 1037C>T; T346I; rs111971143

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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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: Thr346Ile; rs111971143

PubMed Link: 26420797

Variant Present in the following documents:

• Main text

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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: T346I

PubMed Link: 23216583

Variant Present in the following documents:

• Main text

View BVdb publication page

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VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

Blood

Bellissimo, Daniel B DB; Christopherson, Pamela A PA; Flood, Veronica H VH; Gill, Joan Cox JC; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Shapiro, Amy D AD; Abshire, Thomas C TC; Leissinger, Cindy C; Hoots, W Keith WK; Lusher, Jeanne M JM; Ragni, Margaret V MV; Montgomery, Robert R RR

Publication Date: 2012-03-01

Variant appearance in text: VWF: T346I

PubMed Link: 22197721

Variant Present in the following documents:

• Main text

View BVdb publication page

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