Publications:

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Missense Variants of von Willebrand Factor in the Background of COVID-19 Associated Coagulopathy.

Genes

Elek, Zsuzsanna Z; Losoncz, Eszter E; Maricza, Katalin K; Fülep, Zoltán Z; Bánlaki, Zsófia Z; Kovács-Nagy, Réka R; Keszler, Gergely G; Rónai, Zsolt Z

Publication Date: 2023-02-28

Variant appearance in text: rs1800378

PubMed Link: 36980889

Variant Present in the following documents:

• Main text
• genes-14-00617.pdf

View BVdb publication page

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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: H484L; rs1800378

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Ex vivo Improvement of a von Willebrand Disease Type 2A Phenotype Using an Allele-Specific Small-Interfering RNA.

Thrombosis And Haemostasis

de Jong, Annika A; Dirven, Richard J RJ; Boender, Johan J; Atiq, Ferdows F; Anvar, Seyed Yahya SY; Leebeek, Frank W G FWG; van Vlijmen, Bart J M BJM; Eikenboom, Jeroen J

Publication Date: 2020-11

Variant appearance in text: rs1800378

PubMed Link: 32803740

Variant Present in the following documents:

• Main text
• 10-1055-s-0040-1715442.pdf

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1800378

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs1800378

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1800378

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance.

Journal Of Thrombosis And Haemostasis : Jth

Ozel, A B AB; McGee, B B; Siemieniak, D D; Jacobi, P M PM; Haberichter, S L SL; Brody, L C LC; Mills, J L JL; Molloy, A M AM; Ginsburg, D D; Li, J Z JZ; Desch, K C KC

Publication Date: 2016-09

Variant appearance in text: rs1800378

PubMed Link: 27359253

Variant Present in the following documents:

• Main text

View BVdb publication page

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Von Willebrand Factor Gene Variants Associate with Herpes simplex Encephalitis.

Plos One

Abdelmagid, Nada N; Bereczky-Veress, Biborka B; Atanur, Santosh S; Musilová, Alena A; Zídek, Václav V; Saba, Laura L; Warnecke, Andreas A; Khademi, Mohsen M; Studahl, Marie M; Aurelius, Elisabeth E; Hjalmarsson, Anders A; Garcia-Diaz, Ana A; Denis, Cécile V CV; Bergström, Tomas T; Sköldenberg, Birgit B; Kockum, Ingrid I; Aitman, Timothy T; Hübner, Norbert N; Olsson, Tomas T; Pravenec, Michal M; Diez, Margarita M

Publication Date: 2016

Variant appearance in text: rs1800378

PubMed Link: 27224245

Variant Present in the following documents:

• Main text
• pone.0155832.pdf

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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: rs1800378

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Family-based genome scan for age at onset of late-onset Alzheimer's disease in whole exome sequencing data.

Genes, Brain, And Behavior

Saad, M M; Brkanac, Z Z; Wijsman, E M EM

Publication Date: 2015-11

Variant appearance in text: rs1800378

PubMed Link: 26394601

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs1800378

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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