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Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment Y Zhang, X Yu, M Ichikawa, JJ Lyons, S Datta, IT Lamborn, H Jing, ES Kim, ... Journal of Allergy and Clinical Immunology 133 (5), 1400-1409. e5, 2014 | 240 | 2014 |
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Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay M He, LE Kratz, JJ Michel, AN Vallejo, L Ferris, RI Kelley, JJ Hoover, ... The Journal of clinical investigation 121 (3), 976-984, 2011 | 109 | 2011 |
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IRF2BPL is associated with neurological phenotypes PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ... The American Journal of Human Genetics 103 (2), 245-260, 2018 | 97 | 2018 |
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Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease JC Ravell, M Matsuda-Lennikov, SD Chauvin, J Zou, M Biancalana, ... The Journal of clinical investigation 130 (1), 507-522, 2020 | 88 | 2020 |
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Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors BG Ng, LA Wolfe, M Ichikawa, T Markello, M He, CJ Tifft, WA Gahl, ... Human molecular genetics 24 (11), 3050-3057, 2015 | 75 | 2015 |
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Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ... The American Journal of Human Genetics 102 (3), 494-504, 2018 | 73 | 2018 |