Summary
I am a geneticist investigating gestational trophoblastic diseases, a group of pregnancy-related disorders that includes pre-malignant hydatidiform moles (‘molar pregnancies’) and malignant forms such as choriocarcinoma, placental-site trophoblastic tumour and epithelioid trophoblastic tumour. My role involves both genetic diagnosis of such diseases and research into the underlying molecular mechanisms.
Prior to joining Imperial College in 2019 I was a postdoctoral researcher at University of Oxford where I investigated the ‘selfish’ clonal selection of mutant stem cells in normal human testes, an age-related process associated with increased transmission of pathogenic mutations to the next generation.
Education
BSc Genetics, University College Cork, Ireland (2002-2006)
MRes Advanced Genetic Analysis, University of Leeds (2006-2007)
PhD Genetic Medicine, University of Manchester (2007-2011)
Selected Publications
Journal Articles
Fisher RA, 2021, Genetics of gestational trophoblastic disease, Best Practice & Research Clinical Obstetrics & Gynaecology, Vol:74, ISSN:1521-6934, Pages:29-41
Maher GJ, Ralph HK, Ding Z, et al., 2018, Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes., Genome Res, Vol:28, Pages:1779-1790
Guo J, Grow EJ, Mlcochova H, et al., 2018, The adult human testis transcriptional cell atlas., Cell Res, Vol:28, Pages:1141-1157
Guo J, Grow EJ, Yi C, et al., 2017, Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development., Cell Stem Cell, Vol:21, Pages:533-546.e6
Giannoulatou E, Maher GJ, Ding Z, et al., 2017, Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline., Plos One, Vol:12
Maher GJ, McGowan SJ, Giannoulatou E, et al., 2016, Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes., Proc Natl Acad Sci U S A, Vol:113, Pages:2454-2459