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Nature Communications|March 31, 2025
Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitisMeritxell Oliva, Mrinal K Sarkar, Michael E March, et al.Journal of Clinical Immunology|March 28, 2025
DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) PneumoniaSajjad Biglari, Leila Youssefian, Mohammad Amin Tabatabaiefar, et al.Journal of Medical Genetics|March 18, 2025
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulationSajjad Biglari, Mohammad Shahrooei, Fatemeh Vahidnezhad, et al.Clinical Genetics|September 3, 2025
Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 PatientsPegah Beheshti, Fahimeh Akbarian, Emran Esmaeilzadeh, et al.American Journal of Medical Genetics. Part A|August 26, 2021
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestryEmily Mira Warshauer, Adam Brown, Ignacia Fuentes, et al.The Journal of Experimental Medicine|August 3, 2018
The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomavirusesSarah Jill de Jong, Amandine Créquer, Irina Matos, et al.The Journal of Experimental Medicine|November 3, 2022
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosisMasato Ogishi, Rui Yang, Rémy Rodriguez, et al.Science Immunology|February 27, 2026
Human LFA-1 governs T cell immune surveillance of the skinAhmad Yatim, Leila Youssefian, Aida Idani, et al.Cell|July 2, 2021
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthyVivien Béziat, Franck Rapaport, Jiafen Hu, et al.Cell|May 3, 2024
FLT3L governs the development of partially overlapping hematopoietic lineages in humans and miceMana Momenilandi, Romain Lévy, Steicy Sobrino, et al.Pageof 8