Concepedia

Mark J. McCabe

MJ

Statistics

Publications

21

Citations

1.2K

H-Index

18

Active since

2010

Affiliations

University College London(Current)

Garvan Institute of Medical Research

St Vincent's Clinic

UNSW Sydney

The University of Sydney

Mark J. McCabe is an author at University College London specializing in medicine, cell biology, and genetics.

ORCID

Top concepts

Publications per year

2010–2023

21

Publications

21

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

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

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

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

Arcadi Cipponi, David L. Goode, Justin Bedő et al. · Science · 2020 · 106 citations

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

Emma Webb, Angham Almutair, Daniel Kelberman et al. · Brain · 2013 · 85 citations · Full text

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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 · 84 citations · Full text

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