Publications:

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"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: ITGB3: 985A>G; Asn329Asp; rs201550717

PubMed Link: 36507135

Variant Present in the following documents:

• Table1.xlsx, sheet 1

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: ITGB3: N329D; rs201550717

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.

Neurogenetics

Acosta-Baena, Natalia N; Tejada-Moreno, Johanna Alexandra JA; Arcos-Burgos, Mauricio M; Villegas-Lanau, Carlos Andrés CA

Publication Date: 2022-10

Variant appearance in text: ITGB3: Asn329Asp

PubMed Link: 36331689

Variant Present in the following documents:

• Main text
• 10048_2022_Article_700.pdf

View BVdb publication page

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Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.

Haematologica

Gilad, Oded O; Dgany, Orly O; Noy-Lotan, Sharon S; Krasnov, Tanya T; Yacobovich, Joanne J; Rabinowicz, Ron R; Goldberg, Tracie T; Kuperman, Amir A AA; Abu-Quider, Abed A; Miskin, Hagit H; Kapelushnik, Noa N; Mandel-Shorer, Noa N; Shimony, Shai S; Harlev, Dan D; Ben-Ami, Tal T; Adam, Etai E; Levin, Carina C; Aviner, Shraga S; Elhasid, Ronit R; Berger-Achituv, Sivan S; Chaitman-Yerushalmi, Lilach L; Kodman, Yona Y; Oniashvilli, Nino N; Hameiri-Grosman, Michal M; Izraeli, Shai S; Tamary, Hannah H; Steinberg-Shemer, Orna O

Publication Date: 2022-09-01

Variant appearance in text: rs201550717

PubMed Link: 35295078

Variant Present in the following documents:

• 2021_280116_GILAD_SUPPL.pdf

View BVdb publication page

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Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.

Npj Genomic Medicine

Owaidah, Tarek T; Saleh, Mahasen M; Baz, Batoul B; Abdulaziz, Basma B; Alzahrani, Hazza H; Tarawah, Ahmed A; Almusa, Abdulrahman A; AlNounou, Randa R; AbaAlkhail, Hala H; Al-Numair, Nouf N; Altahan, Rahaf R; Abouelhoda, Mohammed M; Alamoudi, Thamer T; Monies, Dorota D; Jabaan, Amjad A; Al Tassan, Nada N

Publication Date: 2019

Variant appearance in text: ITGB3: 985A>G; N329D; rs201550717

PubMed Link: 30792900

Variant Present in the following documents:

• Main text
• 41525_2019_Article_79.pdf

View BVdb publication page

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: ITGB3: N329D; rs201550717

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Palsgrove, Doreen N DN; Brosnan-Cashman, Jacqueline A JA; Giannini, Caterina C; Raghunathan, Aditya A; Jentoft, Mark M; Bettegowda, Chetan C; Gokden, Murat M; Lin, Doris D; Yuan, Ming M; Lin, Ming-Tseh MT; Heaphy, Christopher M CM; Rodriguez, Fausto J FJ

Publication Date: 2018-12

Variant appearance in text: ITGB3: N329D; rs201550717

PubMed Link: 29973652

Variant Present in the following documents:

• NIHMS972465-supplement-2.xlsx, sheet 1
• NIHMS972465-supplement-1.xlsx, sheet 10

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs201550717

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: ITGB3: N329D

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: ITGB3: N329D

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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