Mark J. McCabe

Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

Taneli Raivio, Mark J. McCabe, Christopher Romero et al. · The Journal of Clinical Endocrinology & Metabolism · 2012 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Novel<i>FGF8</i>Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

Mark J. McCabe, Carles Gaston‐Massuet, Vaitsa Tziaferi et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 153 citations · Full text

Medicine, Genetics, Molecular Genetics +17

MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer

Arcadi Cipponi, David L. Goode, Justin Bedő et al. · Science · 2020 · 107 citations

Medicine, Cancer Biology, Oncology +17

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease

Amali Mallawaarachchi, Yvonne Hort, Mark J. Cowley et al. · European Journal of Human Genetics · 2016 · 90 citations · Full text

Medicine, Genetics, Molecular Genetics +14

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

Emma Webb, Angham Almutair, Daniel Kelberman et al. · Brain · 2013 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16