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American Journal of Human Genetics|September 24, 2013
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein armsMichael R Knowles, Lawrence E Ostrowski, Niki T Loges, et al.
JCI Insight|September 27, 2022
Immunogenetics associated with severe coccidioidomycosisAmy P Hsu, Agnieszka Korzeniowska, Cynthia C Aguilar, et al.
JCI Insight|September 3, 2016
Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophyElise M N Ferre, Stacey R Rose, Sergio D Rosenzweig, et al.
American Journal of Human Genetics|October 8, 2013
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary DyskinesiaChristina Austin-Tse, Jan Halbritter, Maimoona A Zariwala, et al.
The Journal of Allergy and Clinical Immunology|April 30, 2026
Clinical features, genetics, treatment, and long-term outcomes of STAT3 hyper-IgE syndrome: a single-center cohort analysisAlexandra F Freeman, Chen Wang, Amanda Urban, et al.
American Journal of Human Genetics|July 30, 2013
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6Maimoona A Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, et al.
The New England Journal of Medicine|May 29, 2024
The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1Vasileios Oikonomou, Grace Smith, Gregory M Constantine, et al.
The Journal of Allergy and Clinical Immunology|June 26, 2022
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluationsMorgan N Similuk, Jia Yan, Rajarshi Ghosh, et al.
Science (New York, N.Y.)|September 19, 2024
Germline mutations in a G protein identify signaling cross-talk in T cellsHyoungjun Ham, Huie Jing, Ian T Lamborn, et al.
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