Mark James Mccabe

Mark James Mccabe

Garvan Institute of Medical Research - Darlinghurst / Australia
Natural Sciences / Biological Science
AD Scientific Index ID: 4379458
person_outline Mark James Mccabe's MOST POPULAR ARTICLES
1-) Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia The Journal of Clinical Endocrinology & Metabolism 97 (4), E694-E699, 2012
2-) Novel FGF8 Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction The Journal of Clinical Endocrinology & Metabolism 96 (10), E1709-E1718, 2011
3-) Septo-optic dysplasia and other midline defects: The role of transcription factors: HESX1 and beyond Best practice & research Clinical endocrinology & metabolism 25 (1), 115-124, 2011
4-) MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer Science 368 (6495), 1127-1131, 2020
5-) Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease European Journal of Human Genetics 24 (11), 1584, 2016