Colm Costigan

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

Anne Puel, Rainer Döffinger, Angels Natividad et al. · The Journal of Experimental Medicine · 2010 · 721 citations · Full text

Life Sciences, Dermatology, Immunology +17

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans

Claire Hughes, Leonardo Guasti, Eirini Meimaridou et al. · Journal of Clinical Investigation · 2012 · 260 citations · Full text

Medicine, Endocrinology, Genetics +17

Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I

Antonella Meloni, Maria Furcas, Filomena Cetani et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 205 citations · Full text

Life Sciences, Endocrinology, Immunology +17

Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

Stephen M. Collins, María Domínguez, Tanja Ilmarinen et al. · British Journal of Dermatology · 2006 · 114 citations

Medicine, Dermatology, Endocrinology +17

Copy number variation of two separate regulatory regions upstream of <i>SOX9</i> causes isolated 46,XY or 46,XX disorder of sex development

Gwang-Jin Kim, Elisabeth Sock, Astrid Buchberger et al. · Journal of Medical Genetics · 2015 · 109 citations

Life Sciences, Genetics, Molecular Genetics +17