Publications:

"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).

Frontiers In Pediatrics

Lassandro, Giuseppe G; Palladino, Valentina V; Faleschini, Michela M; Barone, Angelica A; Boscarol, Gianluca G; Cesaro, Simone S; Chiocca, Elena E; Farruggia, Piero P; Giona, Fiorina F; Gorio, Chiara C; Maggio, Angela A; Marinoni, Maddalena M; Marzollo, Antonio A; Palumbo, Giuseppe G; Russo, Giovanna G; Saracco, Paola P; Spinelli, Marco M; Verzegnassi, Federico F; Morga, Francesca F; Savoia, Anna A; Giordano, Paola P

Publication Date: 2022

Variant appearance in text: VWF: 1781C>G; Ala594Gly; rs267607308

PubMed Link: 36507135

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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: A594G; rs267607308

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: A594G; rs267607308

PubMed Link: 34662354

Variant Present in the following documents:

• pone.0258675.s002.pdf

View BVdb publication page

Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Life (Basel, Switzerland)

Gindele, Réka R; Kerényi, Adrienne A; Kállai, Judit J; Pfliegler, György G; Schlammadinger, Ágota Á; Szegedi, István I; Major, Tamás T; Szabó, Zsuzsanna Z; Bagoly, Zsuzsa Z; Kiss, Csongor C; Kappelmayer, János J; Bereczky, Zsuzsanna Z

Publication Date: 2021-03-05

Variant appearance in text: VWF: 1781C>G; Ala594Gly

PubMed Link: 33807613

Variant Present in the following documents:

• Main text
• life-11-00202-s001.pdf
• life-11-00202.pdf

View BVdb publication page

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: A594G

PubMed Link: 22197721

Variant Present in the following documents:

• Main text

View BVdb publication page