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Blood|June 15, 2018
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized miceInga Hofmann, Mitchell J Geer, Timo Vögtle, et al.
Nature Genetics|March 3, 2017
Biallelic mutations in human DCC cause developmental split-brain syndromeSaumya S Jamuar, Klaus Schmitz-Abe, Alissa M D'Gama, et al.
Immunity|April 29, 2021
Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infectionsHani Harb, Mehdi Benamar, Peggy S Lai, et al.
Blood|October 23, 2015
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9Klaus Schmitz-Abe, Szymon J Ciesielski, Paul J Schmidt, et al.
American Journal of Human Genetics|March 21, 2020
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationDongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, et al.
Allergy|July 21, 2021
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiencyBurcu Kolukisa, Dilek Baser, Bengu Akcam, et al.
Blood|September 7, 2014
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)Pranesh K Chakraborty, Klaus Schmitz-Abe, Erin K Kennedy, et al.
American Journal of Human Genetics|June 29, 2021
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disordersAnna R Duncan, Maya M Polovitskaya, Héctor Gaitán-Peñas, et al.
Research Square|April 20, 2022
Notch1-CD22-Dependent Immune Dysregulation in the SARS-CoV2-Associated Multisystem Inflammatory Syndrome in ChildrenTalal A Chatila, Mehdi Benamar, Qian Chen, et al.
The Journal of Clinical Investigation|October 25, 2022
The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in childrenMehdi Benamar, Qian Chen, Janet Chou, et al.
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