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: rs216311

PubMed Link: 36980889

Variant Present in the following documents:

• Main text
• genes-14-00617.pdf

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Study on the Correlation between the Prevalence of Venous Thromboembolism in Kazak Pregnant and Lying-In Women in Xinjiang.

Contrast Media & Molecular Imaging

Tian, Guanglei G; Ci, Hongbo H; Song, Wei W; Zhu, Bing B; Chen, Xiong X; Ge, XiaoHu X

Publication Date: 2022

Variant appearance in text: rs216311

PubMed Link: 36017017

Variant Present in the following documents:

• CMMI2022-7001743.pdf

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Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia.

Genes

Lago, Juliana J; Groot, Helena H; Navas, Diego D; Lago, Paula P; Gamboa, María M; Calderón, Dayana D; Polanía-Villanueva, Diana C DC

Publication Date: 2021-11-18

Variant appearance in text: VWF: 4141A>T; Thr1381Ser; rs216311

PubMed Link: 34828413

Variant Present in the following documents:

• Main text
• genes-12-01807.pdf

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs216311

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

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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: rs216311

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

Blood

Lindström, Sara S; Wang, Lu L; Smith, Erin N EN; Gordon, William W; van Hylckama Vlieg, Astrid A; de Andrade, Mariza M; Brody, Jennifer A JA; Pattee, Jack W JW; Haessler, Jeffrey J; Brumpton, Ben M BM; Chasman, Daniel I DI; Suchon, Pierre P; Chen, Ming-Huei MH; Turman, Constance C; Germain, Marine M; Wiggins, Kerri L KL; MacDonald, James J; Braekkan, Sigrid K SK; Armasu, Sebastian M SM; Pankratz, Nathan N; Jackson, Rebecca D RD; Nielsen, Jonas B JB; Giulianini, Franco F; Puurunen, Marja K MK; Ibrahim, Manal M; Heckbert, Susan R SR; Damrauer, Scott M SM; Natarajan, Pradeep P; Klarin, Derek D; , ; de Vries, Paul S PS; Sabater-Lleal, Maria M; Huffman, Jennifer E JE; , ; Bammler, Theo K TK; Frazer, Kelly A KA; McCauley, Bryan M BM; Taylor, Kent K; Pankow, James S JS; Reiner, Alexander P AP; Gabrielsen, Maiken E ME; Deleuze, Jean-François JF; O'Donnell, Chris J CJ; Kim, Jihye J; McKnight, Barbara B; Kraft, Peter P; Hansen, John-Bjarne JB; Rosendaal, Frits R FR; Heit, John A JA; Psaty, Bruce M BM; Tang, Weihong W; Kooperberg, Charles C; Hveem, Kristian K; Ridker, Paul M PM; Morange, Pierre-Emmanuel PE; Johnson, Andrew D AD; Kabrhel, Christopher C; Trégouët, David-Alexandre DA; Smith, Nicholas L NL

Publication Date: 2019-11-07

Variant appearance in text: rs216311

PubMed Link: 31420334

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs216311

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 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: rs216311

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: rs216311

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: rs216311

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.

Haematologica

Casonato, Alessandra A; Daidone, Viviana V; Barbon, Giovanni G; Pontara, Elena E; Di Pasquale, Irene I; Gallinaro, Lisa L; Marullo, Letizia L; Bertorelle, Giorgio G

Publication Date: 2013-01

Variant appearance in text: rs216311

PubMed Link: 22875612

Variant Present in the following documents:

• Main text

View BVdb publication page

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