| 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 | 170 | 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 | 148 | 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 | 147 | 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 | 92 | 2013 |
| 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 | 85 | 2016 |
| 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 | 84 | 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 | 83 | 2012 |
| 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 | 82 | 2020 |
| 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 | 76 | 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 | 62 | 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 | 60 | 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 | 60 | 2010 |
| 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 | 53 | 2013 |
| 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 | 52 | 2016 |
| Genetic aspects of hypothalamic and pituitary gland development MJ McCabe, MT Dattani Handbook of clinical neurology 124, 3-15, 2014 | 49 | 2014 |
| 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 | 40 | 2015 |
| 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 | 40 | 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 | 37 | 2017 |
| Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications LJ Ewans, A Colley, C Gaston-Massuet, A Gualtieri, MJ Cowley, ... Journal of medical genetics, jmedgenet-2019-106019, 2019 | 26 | 2019 |
| Development and validation of a targeted gene sequencing panel for application to disparate cancers MJ McCabe, MEA Gauthier, CL Chan, TJ Thompson, SMC De Sousa, ... Scientific Reports 9 (1), 1-16, 2019 | 22 | 2019 |
