| Opposing FGF and retinoid pathways control ventral neural pattern, neuronal differentiation, and segmentation during body axis extension RD del Corral, I Olivera-Martinez, A Goriely, E Gale, M Maden, K Storey Neuron 40 (1), 65-79, 2003 | 685 | 2003 |
| The adult human testis transcriptional cell atlas J Guo, EJ Grow, H Mlcochova, GJ Maher, C Lindskog, X Nie, Y Guo, ... Cell research 28 (12), 1141-1157, 2018 | 485 | 2018 |
| Factors influencing success of clinical genome sequencing across a broad spectrum of disorders JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ... Nature genetics 47 (7), 717-726, 2015 | 401 | 2015 |
| Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease A Goriely, AOM Wilkie The American Journal of Human Genetics 90 (2), 175-200, 2012 | 380 | 2012 |
| Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line A Goriely, GAT McVean, M Rojmyr, B Ingemarsson, AOM Wilkie Science 301 (5633), 643-646, 2003 | 337 | 2003 |
| Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line A Goriely, GAT McVean, M Rojmyr, B Ingemarsson, AOM Wilkie Science 301 (5633), 643-646, 2003 | 337 | 2003 |
| Chromatin and single-cell RNA-seq profiling reveal dynamic signaling and metabolic transitions during human spermatogonial stem cell development J Guo, EJ Grow, C Yi, H Mlcochova, GJ Maher, C Lindskog, PJ Murphy, ... Cell stem cell 21 (4), 533-546. e6, 2017 | 230 | 2017 |
| Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors A Goriely, RMS Hansen, IB Taylor, IA Olesen, GK Jacobsen, SJ McGowan, ... Nature genetics 41 (11), 1247-1252, 2009 | 218 | 2009 |
| GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia I Roberts, K Alford, G Hall, G Juban, H Richmond, A Norton, G Vallance, ... Blood, The Journal of the American Society of Hematology 122 (24), 3908-3917, 2013 | 196 | 2013 |
| Early posterior neural tissue is induced by FGF in the chick embryo KG Storey, A Goriely, CM Sargent, JM Brown, HD Burns, HM Abud, ... Development 125 (3), 473-484, 1998 | 185 | 1998 |
| The dynamic transcriptional cell atlas of testis development during human puberty J Guo, X Nie, M Giebler, H Mlcochova, Y Wang, EJ Grow, R Kim, ... Cell stem cell 26 (2), 262-276. e4, 2020 | 184 | 2020 |
| Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia A Goriely, GAT McVean, AMM van Pelt, AW O'Rourke, SA Wall, ... Proceedings of the National Academy of Sciences 102 (17), 6051-6056, 2005 | 161 | 2005 |
| PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution G Mirzaa, AE Timms, V Conti, EA Boyle, KM Girisha, B Martin, M Kircher, ... JCI insight 1 (9), 2016 | 160 | 2016 |
| Advanced paternal age effects in neurodevelopmental disorders—review of potential underlying mechanisms M Janecka, J Mill, MA Basson, A Goriely, H Spiers, A Reichenberg, ... Translational psychiatry 7 (1), e1019-e1019, 2017 | 133 | 2017 |
| Lune/eye gone, a Pax-like protein, uses a partial paired domain and a homeodomain for DNA recognition S Jun, RV Wallen, A Goriely, B Kalionis, C Desplan Proceedings of the National Academy of Sciences 95 (23), 13720-13725, 1998 | 111 | 1998 |
| The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males SRF Twigg, K Matsumoto, AMJ Kidd, A Goriely, IB Taylor, RB Fisher, ... The American Journal of Human Genetics 78 (6), 999-1010, 2006 | 109 | 2006 |
| The determination of sense organs in Drosophila: effect of the neurogenic mutations in the embryo A Goriely, N Dumont, C Dambly-Chaudière, A Ghysen Development 113 (4), 1395-1404, 1991 | 108 | 1991 |
| Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis AL Fenwick, M Kliszczak, F Cooper, J Murray, L Sanchez-Pulido, ... The American Journal of Human Genetics 99 (1), 125-138, 2016 | 106 | 2016 |
| “Selfish spermatogonial selection”: a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders A Goriely, JJ McGrath, CM Hultman, AOM Wilkie, D Malaspina American Journal of Psychiatry 170 (6), 599-608, 2013 | 104 | 2013 |
| Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition KM Lower, JR Hughes, M De Gobbi, S Henderson, V Viprakasit, C Fisher, ... Proceedings of the National Academy of Sciences 106 (51), 21771-21776, 2009 | 88 | 2009 |
