Research output per year
Research output per year
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Assistant Professor
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Dive into the research topics where Yuval Itan is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data
Kars, M. E., Stein, D., Stenson, P. D., Cooper, D. N., Chung, W. K., Gruber, P. J., Seidman, C. E., Shen, Y., Tristani-Firouzi, M., Gelb, B. D. & Itan, Y., 6 Mar 2025, In: American Journal of Human Genetics. 112, 3, p. 583-598 16 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
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, M. E., 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, J. M., Itan, Y. & Flores, C. & 1 others, , 1 Jun 2025, In: NAR Genomics and Bioinformatics. 7, 2, lqaf069.Research output: Contribution to journal › Article › peer-review
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Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency
Zhen, X., Betti, M. J., Kars, M. E., Patterson, A. R., Medina-Torres, E. A., Scheffler Mendoza, S. C., Herrera Sánchez, D. A., Lopez-Herrera, G., Svyryd, Y., Mutchinick, O. M., Gamazon, E. R., Rathmell, J. C., Itan, Y., Markle, J., O’Farrill Romanillos, P., Lugo-Reyes, S. O. & Martinez-Barricarte, R., Dec 2025, In: Journal of Clinical Immunology. 45, 1, 53.Research output: Contribution to journal › Article › peer-review
Open Access -
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (Genome Medicine, (2023), 15, 1, (22), 10.1186/s13073-023-01173-8)
French COVID Cohort Study Group, CoV-Contact Cohort, COVID-STORM Clinicians, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, COVID Human Genetic Effort, COVID Human Genetic Effort & COVIDeF Study Group, Dec 2024, In: Genome Medicine. 16, 1, 6.Research output: Contribution to journal › Comment/debate
1 Scopus citations -
Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications
Duffy, Á., Petrazzini, B. O., Stein, D., Park, J. K., Forrest, I. S., Gibson, K., Vy, H. M., Chen, R., Márquez-Luna, C., Mort, M., Verbanck, M., Schlessinger, A., Itan, Y., Cooper, D. N., Rocheleau, G., Jordan, D. M. & Do, R., Jan 2024, In: Nature Genetics. 56, 1, p. 51-59 9 p.Research output: Contribution to journal › Article › peer-review
6 Scopus citations
Press/Media
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Icahn School of Medicine at Mount Sinai Details Findings in Congenital Heart Disease (Deciphering the Digenic Architecture of Congenital Heart Disease Using Trio Exome Sequencing Data)
Stein, D., Itan, Y. & Gelb, B.
16/04/25
1 item of Media coverage
Press/Media
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Scientists find hidden genetic cause of congenital heart disease
9/03/25
1 item of Media coverage
Press/Media
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KMN 2025: How Hidden genetic causes of congenital coronary heart illness is recognized
22/02/25
1 item of Media coverage
Press/Media
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Hidden genetic causes of congenital heart disease identified
Stein, D., Itan, Y. & Gelb, B.
21/02/25
1 item of Media coverage
Press/Media