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Y. Itan · SciRah

Researcher profile · Semantic Scholar

Y. Itan

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Y. Itan — researcher profile on SciRah

h-index: 52
Works: 151
Citations: 11K

Most-cited papers

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency
Patrick Maffucci, C. Filion, B. Boisson, Y. Itan +3 more
2016Frontiers in Immunology255 citations Open access
Semantic Scholar
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection
J. Casanova, Helen C. Su, L. Abel, A. Aiuti +60 more
2020Cell198 citations Open access
Semantic Scholar
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant
S. Boisson-Dupuis, Noé Ramírez-Alejo, Zhi Li, E. Patin +63 more
2018Science immunology188 citations Open access
Semantic Scholar
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23
R. Martinez-Barricarte, J. Markle, Cindy S. Ma, E. Deenick +49 more
2018Science immunology173 citations Open access
Semantic Scholar
Severe influenza pneumonitis in children with inherited TLR3 deficiency
H. Lim, S. X. Huang, Jie Chen, Gaspard Kerner +28 more
2019Journal of Experimental Medicine164 citations Open access
Semantic Scholar
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency
R. Lévy, S. Okada, V. Béziat, K. Moriya +38 more
2016Proceedings of the National Academy of Sciences of the United States of America162 citations Open access
Semantic Scholar
SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
V. Sancho-Shimizu, P. Brodin, A. Cobat, C. Biggs +147 more
2021Journal of Experimental Medicine133 citations Open access
Semantic Scholar
Inborn errors of RNA lariat metabolism in humans with brainstem viral infection
Shen-Ying Zhang, N. E. Clark, C. Freije, Elodie Pauwels +45 more
2018Cell128 citations Open access
Semantic Scholar
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency
J. Cottineau, Molly C. Kottemann, Francis P. Lach, Young-Hoon Kang +38 more
2017Journal of Clinical Investigation127 citations Open access
Semantic Scholar
Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis
S. Belkaya, A. Kontorovich, Minji Byun, Sonia Mulero-Navarro +14 more
2017Journal of the American College of Cardiology120 citations Open access
Semantic Scholar
Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities
L. O. Huang, A. Rauch, Eugenia Mazzaferro, Michael H. Preuss +12 more
2021Nature Metabolism105 citations
Semantic Scholar
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis
Fabien G. Lafaille, O. Harschnitz, Y. Lee, P. Zhang +39 more
2019Nature Medicine104 citations Open access
Semantic Scholar
The genetic structure of the Turkish population reveals high levels of variation and admixture
M. Kars, A. Başak, O. Onat, K. Bilguvar +12 more
2021Proceedings of the National Academy of Sciences of the United States of America100 citations Open access
Semantic Scholar
TLR3 controls constitutive IFN-β antiviral immunity in human fibroblasts and cortical neurons.
Daxing Gao, Michael J. Ciancanelli, Peng Zhang, O. Harschnitz +24 more
2020Journal of Clinical Investigation88 citations Open access
Semantic Scholar
Disruption of an anti-mycobacterial circuit between dendritic and Th cells in human SPPL2a deficiency
Xiao-Fei Kong, R. Martinez-Barricarte, J. Kennedy, F. Mele +37 more
2018Nature Immunology88 citations Open access
Semantic Scholar
Human adaptive immunity rescues an inborn error of innate immunity
Laura Israel, Ying Wang, K. Bulek, E. Della Mina +30 more
2017Cell82 citations Open access
Semantic Scholar
Inflamed ulcerative colitis regions associated to MRGPRX2-mediated mast cell degranulation and cell activation modules, defining a new therapeutic target
Ernie Chen, Ling-Shiang Chuang, M. Giri, Nicole Villaverde +24 more
2021Gastroenterology81 citations Open access
Semantic Scholar
Common and rare variant prediction and penetrance of IBD in a large, multi-ethnic, health system-based biobank cohort
Kyle Gettler, Rachel M. Levantovsky, A. Moscati, M. Giri +17 more
2020Gastroenterology81 citations Open access
Semantic Scholar
PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations
Peng Zhang, B. Bigio, Franck Rapaport, Shen-Ying Zhang +4 more
2018Bioinform.61 citations Open access
Semantic Scholar
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis
Patrick Maffucci, B. Bigio, Franck Rapaport, A. Cobat +17 more
2018Proceedings of the National Academy of Sciences of the United States of America57 citations Open access
Semantic Scholar
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways
Cigdem Sevim Bayrak, P. Zhang, M. Tristani-Firouzi, B. Gelb +1 more
2020Genome Medicine54 citations Open access
Semantic Scholar
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.
Cigdem Sevim Bayrak, David Stein, Aayushee Jain, Kumardeep Chaudhary +9 more
2021American Journal of Human Genetics50 citations Open access
Semantic Scholar
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts
E. Della Mina, A. Borghesi, Hao Zhou, S. Bougarn +22 more
2017Proceedings of the National Academy of Sciences of the United States of America48 citations Open access
Semantic Scholar
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set
David Stein, M. E. Kars, Yi-Ming Wu, C. Bayrak +4 more
2022bioRxiv47 citations Open access
Semantic Scholar
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β
Juan Li, M. Ritelli, Cindy S. Ma, G. Rao +32 more
2019Science immunology44 citations Open access
Semantic Scholar
Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency
B. Boisson, Yoshitaka Honda, M. Ajiro, J. Bustamante +24 more
2018Journal of Clinical Investigation43 citations Open access
Semantic Scholar
Human CRY1 variants associate with attention deficit/hyperactivity disorder.
O. Onat, M. E. Kars, Şeref Gül, K. Bilguvar +14 more
2020Journal of Clinical Investigation38 citations Open access
Semantic Scholar
Biological Network Approaches and Applications in Rare Disease Studies
Peng Zhang, Y. Itan
2019Genes36 citations Open access
Semantic Scholar
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Michael E Horesh, Marta Martin-Fernandez, C. Gruber, S. Buta +35 more
2024Journal of Experimental Medicine29 citations Open access
Semantic Scholar
Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications
Á. Duffy, B. Petrazzini, D. Stein, Joshua K. Park +13 more
2024Nature Genetics29 citations
Semantic Scholar
The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity
M. E. Kars, Yiming Wu, P. Stenson, D. N. Cooper +3 more
2024Genome Medicine26 citations Open access
Semantic Scholar
Genetic susceptibility to diabetic kidney disease is linked to promoter variants of XOR
Qin Wang, Haiying Qi, Yi-Ming Wu, Li-Ping Yu +17 more
2023Nature Metabolism22 citations
Semantic Scholar
Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric Myocarditis
A. Kontorovich, Ying-Ying Tang, N. Patel, Zhanna Georgievskaya +7 more
2021Circulation Genomic and Precision Medicine20 citations Open access
Semantic Scholar
Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.
M. Martínez-Saavedra, Sonia García-Gómez, Ana Domínguez Acosta, Juan Jesús Mendoza Quintana +11 more
2016Clinical Immunology20 citations
Semantic Scholar
Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score
Robert Chen, Á. Duffy, B. Petrazzini, H. M. Vy +9 more
2024Nature Communications17 citations Open access
Semantic Scholar
Ablation of Prdm16 and beige fat identity causes vascular remodeling and elevated blood pressure
M. Koenen, Tobias Becher, Giulia Pagano, Ilaria Del Gaudio +17 more
2026Science15 citations Open access
Semantic Scholar
Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients
Yi-Ming Wu, Kyle Gettler, M. E. Kars, M. Giri +27 more
2023Nature Communications15 citations Open access
Semantic Scholar
Whole exome sequencing in inborn errors of immunity: use the power but mind the limits
G. Bucciol, Erika Van Nieuwenhove, Leen Moens, Y. Itan +1 more
2017Current Opinion in Allergy and Clinical Immunology14 citations Open access
Semantic Scholar
Sudden Cardiac Arrest in a Patient With Mitral Valve Prolapse and LMNA and SCN5A Mutations
Asha M. Mahajan, Y. Itan, M. Cerrone, J. Horowitz +3 more
2021JACC Case Reports13 citations Open access
Semantic Scholar
Inherited human RelB deficiency impairs innate and adaptive immunity to infection
T. Le Voyer, Majistor Raj Luxman Maglorius Renkilaraj, Kunihiko Moriya, Malena Pérez Lorenzo +25 more
2024Proceedings of the National Academy of Sciences of the United States of America12 citations Open access
Semantic Scholar
Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis
A. Bolze, T. Mogensen, Shen-Ying Zhang, L. Abel +91 more
2022Journal of Clinical Immunology12 citations Open access
Semantic Scholar
SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data
Peng Zhang, B. Boisson, P. Stenson, D. Cooper +3 more
2018bioRxiv12 citations Open access
Semantic Scholar
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data.
M. E. Kars, D. Stein, P. Stenson, David N. Cooper +7 more
2025American Journal of Human Genetics10 citations Open access
Semantic Scholar
Expanding the utility of variant effect predictions with phenotype-specific models
D. Stein, M. E. Kars, Baptiste Milisavljevic, M. Mort +7 more
2025Nature Communications10 citations Open access
Semantic Scholar
Identifying disease-causing mutations in genomes of single patients by computational approaches
Cigdem Sevim Bayrak, Y. Itan
2020Human Genetics10 citations
Semantic Scholar
Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort
Laire Schidlowski, Fernando Liebert, Perola G. Iankilevich, P. Rebellato +7 more
2020Frontiers in Genetics9 citations Open access
Semantic Scholar
A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity.
Peng Zhang, A. Cobat, Y. Lee, Yi-Ming Wu +13 more
2021American Journal of Human Genetics8 citations Open access
Semantic Scholar
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency
David Requena, Patrick Maffucci, B. Bigio, L. Shang +8 more
2018Frontiers in Immunology8 citations Open access
Semantic Scholar
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers
Marjon Wouters, Lisa Ehlers, Wout Van Eynde, M. E. Kars +14 more
2024medRxiv7 citations Open access
Semantic Scholar
Proteogenomic analysis integrated with electronic health records data reveals disease-associated variants in Black Americans
U. A. Tahir, Jacob L. Barber, Daniel E. Cruz, M. E. Kars +30 more
2024Journal of Clinical Investigation5 citations Open access
Semantic Scholar

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