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Cell|October 24, 2023
Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteriaJonathan Bohlen, Qinhua Zhou, Quentin Philippot, et al.The Journal of Experimental Medicine|March 25, 2020
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndromeVivien Béziat, Simon J Tavernier, Yin-Huai Chen, et al.Physical Review Letters|June 9, 2023
Observation of a Nuclear Recoil Peak at the 100 eV Scale Induced by Neutron CaptureH Abele, G Angloher, A Bento, 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.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.The Journal of Experimental Medicine|April 20, 2022
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotesPaul Bastard, Kuang-Chih Hsiao, Qian Zhang, et al.The Journal of Experimental Medicine|December 14, 2022
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiencyRomain Lévy, Florian Gothe, Mana Momenilandi, et al.Journal of the American Society of Nephrology : JASN|February 18, 2021
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral RefluxMiguel Verbitsky, Priya Krithivasan, Ekaterina Batourina, et al.Journal of the American Society of Nephrology : JASN|March 30, 2023
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic DiagnosisDina F Ahram, Tze Y Lim, Juntao Ke, et al.The New England Journal of Medicine|January 26, 2017
Genetic Drivers of Kidney Defects in the DiGeorge SyndromeEsther Lopez-Rivera, Yangfan P Liu, Miguel Verbitsky, et al.Pageof 33