Publications:

Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

D'Alterio, Giuseppe G; Lasorsa, Vito Alessandro VA; Bonfiglio, Ferdinando F; Cantalupo, Sueva S; Rosato, Barbara Eleni BE; Andolfo, Immacolata I; Russo, Roberta R; Esposito, Umberto U; Frisso, Giulia G; Abete, Pasquale P; Cassese, Gian Marco GM; Servillo, Giuseppe G; Gentile, Ivan I; Piscopo, Carmelo C; Della Monica, Matteo M; Fiorentino, Giuseppe G; Boccia, Angelo A; Paolella, Giovanni G; Ferrucci, Veronica V; de Antonellis, Pasqualino P; Siciliano, Roberto R; Asadzadeh, Fathem F; Cerino, Pellegrino P; Buonerba, Carlo C; Pierri, Biancamaria B; Zollo, Massimo M; Iolascon, Achille A; Capasso, Mario M

Publication Date: 2022-08

Variant appearance in text: ITGAX: 3055G>A; Val1019Met; rs142434946

PubMed Link: 35511137

Variant Present in the following documents:

• mmc1.xls, sheet 1

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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: ITGAX: 3055G>A; V1019M; rs142434946

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: ITGAX: V1019M; rs142434946

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 9

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Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups.

Nature Communications

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Publication Date: 2013

Variant appearance in text: rs142434946

PubMed Link: 24292195

Variant Present in the following documents:

• ncomms3873-s2.xls, sheet 1

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: ITGAX: V1019M; rs142434946

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page