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Page 1
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.
Zhen X, Betti MJ, Kars ME, Patterson AR, Medina-Torres EA, Scheffler Mendoza SC, Herrera Sánchez DA, Lopez-Herrera G, Svyryd Y, Mutchinick OM, Gamazon ER, Rathmell JC, Itan Y, Markle J, O'Farrill Romanillos P, Lugo-Reyes SO, Martinez-Barricarte R. Zhen X, et al. Among authors: itan y. J Clin Immunol. 2024 Dec 4;45(1):53. doi: 10.1007/s10875-024-01836-0. J Clin Immunol. 2024. PMID: 39630167 Free PMC article.
Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.
Zhen X, Betti M, Kars ME, Patterson A, Medina-Torres EA, Scheffler Mendoza SC, Herrera Sánchez DA, Lopez-Herrera G, Svyryd Y, Mutchinick O, Gamazon E, Rathmell J, Itan Y, Markle J, O'Farrill Romanillos P, Lugo-Reyes SO, Martinez-Barricarte R. Zhen X, et al. Among authors: itan y. Res Sq [Preprint]. 2024 Jul 11:rs.3.rs-4595246. doi: 10.21203/rs.3.rs-4595246/v1. Res Sq. 2024. Update in: J Clin Immunol. 2024 Dec 4;45(1):53. doi: 10.1007/s10875-024-01836-0. PMID: 39041036 Free PMC article. Updated. Preprint.
Proteogenomic analysis integrated with electronic health records data reveals disease-associated variants in Black Americans.
Tahir UA, Barber JL, Cruz DE, Kars ME, Deng S, Tuftin B, Gillman MG, Benson MD, Robbins JM, Chen ZZ, Rao P, Katz DH, Farrell L, Sofer T, Hall ME, Ekunwe L, Tracy RP, Durda P, Taylor KD, Liu Y, Johnson WC, Guo X, Chen YI, Manichaikul AW, Jain D; NHLBI Trans-Omics for Precision Medicine Consortium; Wang TJ, Reiner AP, Natarajan P, Itan Y, Rich SS, Rotter JI, Wilson JG, Raffield LM, Gerszten RE. Tahir UA, et al. Among authors: itan y. J Clin Invest. 2024 Sep 24;134(21):e181802. doi: 10.1172/JCI181802. J Clin Invest. 2024. PMID: 39316441 Free PMC article.
IEIVariantFilter: a bioinformatics tool to speed up genetic diagnosis of inborn errors of immunity patients.
Pereda J, Espinosa R, García-Solís B, Guerra-Galán T, Van-Den-Rym A, Kars ME, Mena R, Galán V, de Andrés-Martín A, Rodríguez-Gallego C, López-Lera A, Corvillo F, Pérez-Martínez A, López-Collazo E, Sánchez-Ramón S, Martínez-Barricarte R, Quintana-Murci L, Lorenzo-Salazar JM, Itan Y, Flores C, Pérez-de-Diego R. Pereda J, et al. Among authors: itan y. NAR Genom Bioinform. 2025 May 28;7(2):lqaf069. doi: 10.1093/nargab/lqaf069. eCollection 2025 Jun. NAR Genom Bioinform. 2025. PMID: 40438610 Free PMC article.
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M, Ehlers L, Van Eynde W, Kars ME, Delafontaine S, Kienapfel V, Dzhus M, Schrijvers R, De Haes P, Struyf S, Bucciol G, Itan Y, Bolze A, Voet A, Hombrouck A, Moens L, Ogunjimi B, Meyts I. Wouters M, et al. Among authors: itan y. medRxiv [Preprint]. 2024 Dec 11:2024.12.09.24317629. doi: 10.1101/2024.12.09.24317629. medRxiv. 2024. PMID: 39711711 Free PMC article. Preprint.
Inherited human RelB deficiency impairs innate and adaptive immunity to infection.
Le Voyer T, Maglorius Renkilaraj MRL, Moriya K, Pérez Lorenzo M, Nguyen T, Gao L, Rubin T, Cederholm A, Ogishi M, Arango-Franco CA, Béziat V, Lévy R, Migaud M, Rapaport F, Itan Y, Deenick EK, Cortese I, Lisco A, Boztug K, Abel L, Boisson-Dupuis S, Boisson B, Frosk P, Ma CS, Landegren N, Celmeli F, Casanova JL, Tangye SG, Puel A. Le Voyer T, et al. Among authors: itan y. Proc Natl Acad Sci U S A. 2024 Sep 10;121(37):e2321794121. doi: 10.1073/pnas.2321794121. Epub 2024 Sep 4. Proc Natl Acad Sci U S A. 2024. PMID: 39231201 Free PMC article.
126 results