|Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia|
T Raivio, M Avbelj, MJ McCabe, CJ Romero, AA Dwyer, J Tommiska, ...
The Journal of Clinical Endocrinology & Metabolism 97 (4), E694-E699, 2012
|Septo-optic dysplasia and other midline defects: The role of transcription factors: HESX1 and beyond|
MJ McCabe, KS Alatzoglou, MT Dattani
Best practice & research Clinical endocrinology & metabolism 25 (1), 115-124, 2011
|Novel FGF8 Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction|
MJ McCabe, C Gaston-Massuet, V Tziaferi, LC Gregory, KS Alatzoglou, ...
The Journal of Clinical Endocrinology & Metabolism 96 (10), E1709-E1718, 2011
|Variations in PROKR2, But Not PROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia|
MJ McCabe, C Gaston-Massuet, LC Gregory, KS Alatzoglou, V Tziaferi, ...
The Journal of Clinical Endocrinology & Metabolism 98 (3), E547-E557, 2013
|ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies|
EA Webb, A AlMutair, D Kelberman, C Bacchelli, E Chanudet, F Lescai, ...
Brain 136 (10), 3096-3105, 2013
|Pituitary gland development: an update|
RE Bancalari, LC Gregory, MJ McCabe, MT Dattani
Developmental Biology of GH Secretion, Growth and Treatment 23, 1-15, 2012
|Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease|
AC Mallawaarachchi, Y Hort, MJ Cowley, MJ McCabe, A Minoche, ...
European Journal of Human Genetics 24 (11), 1584, 2016
|Gonadotropins Regulate Rat Testicular Tight Junctions in Vivo|
MJ McCabe, GA Tarulli, SJ Meachem, DM Robertson, PM Smooker, ...
Endocrinology 151 (6), 2911-2922, 2010
|Evaluation of Streck BCT and PAXgene Stabilised Blood Collection Tubes for Cell-Free Circulating DNA Studies in Plasma|
K Warton, NL Yuwono, MJ Cowley, MJ McCabe, A So, CE Ford
Molecular Diagnosis & Therapy 21 (5), 563-570, 2017
|Androgen Initiates Sertoli Cell Tight Junction Formation in the Hypogonadal (hpg) Mouse|
MJ McCabe, CM Allan, CFH Foo, PK Nicholls, KJ McTavish, PG Stanton
Biology of reproduction 87 (2), 38, 1-8, 2012
|Transcription factor 7-like 1 is involved in hypothalamo–pituitary axis development in mice and humans|
C Gaston-Massuet, MJ McCabe, V Scagliotti, RM Young, G Carreno, ...
Proceedings of the National Academy of Sciences 113 (5), E548-E557, 2016
|Genetic aspects of hypothalamic and pituitary gland development|
MJ McCabe, MT Dattani
Handbook of clinical neurology 124, 3-15, 2014
|Structural pituitary abnormalities associated with CHARGE syndrome|
LC Gregory, EF Gevers, J Baker, T Kasia, K Chong, DJ Josifova, ...
The Journal of Clinical Endocrinology & Metabolism 98 (4), E737-E743, 2013
|Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation|
LC Gregory, KN Humayun, JPG Turton, MJ McCabe, SJ Rhodes, ...
The Journal of Clinical Endocrinology & Metabolism 100 (6), 2158-2164, 2015
|Claudin-11 and occludin are major contributors to Sertoli cell tight junction function, in vitro|
MJ McCabe, CFH Foo, ME Dinger, PM Smooker, PG Stanton
Asian Journal of Andrology 18 (4), 620-626, 2016
|The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism|
LC Gregory, C Gaston‐Massuet, CL Andoniadou, G Carreno, EA Webb, ...
Clinical endocrinology 82 (5), 728-738, 2015
|Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours|
SMC De Sousa, MJ McCabe, K Wu, T Roscioli, V Gayevskiy, K Brook, ...
European Journal of Endocrinology 176 (5), 635-644, 2017
|MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer|
A Cipponi, DL Goode, J Bedo, MJ McCabe, M Pajic, DR Croucher, ...
Science 368 (6495), 1127-1131, 2020
|Diagnosis and evaluation of hypogonadism.|
MJ McCabe, RE Bancalari, MT Dattani
Pediatric Endocrinology Reviews: PER 11, 214-229, 2014
|Gonadotropin suppression in men leads to a reduction in claudin-11 at the Sertoli cell tight junction|
MJ McCabe, GA Tarulli, G Laven-Law, KL Matthiesson, SJ Meachem, ...
Human Reproduction 31 (4), 875-886, 2016