| Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse MT Dattani, JP Martinez-Barbera, PQ Thomas, JM Brickman, R Gupta, ... Nature genetics 19 (2), 125-133, 1998 | 901 | 1998 |
| Anterior primitive endoderm may be responsible for patterning the anterior neural plate in the mouse embryo P Thomas, R Beddington Current Biology 6 (11), 1487-1496, 1996 | 650 | 1996 |
| Hex: a homeobox gene revealing peri-implantation asymmetry in the mouse embryo and an early transient marker of endothelial cell precursors PQ Thomas, A Brown, RSP Beddington Development 125 (1), 85-94, 1998 | 628 | 1998 |
| The homeobox gene Hex is required in definitive endodermal tissues for normal forebrain, liver and thyroid formation JPM Barbera, M Clements, P Thomas, T Rodriguez, D Meloy, D Kioussis, ... Development 127 (11), 2433-2445, 2000 | 559 | 2000 |
| X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment LM Dibbens, PS Tarpey, K Hynes, MA Bayly, IE Scheffer, R Smith, ... Nature genetics 40 (6), 776-781, 2008 | 511 | 2008 |
| Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence S Benko, JA Fantes, J Amiel, DJ Kleinjan, S Thomas, J Ramsay, ... Nature genetics 41 (3), 359-364, 2009 | 491 | 2009 |
| Mutations in DEPDC5 cause familial focal epilepsy with variable foci LM Dibbens, B De Vries, S Donatello, SE Heron, BL Hodgson, ... Nature genetics 45 (5), 546-551, 2013 | 399 | 2013 |
| GDNF is a chemoattractant for enteric neural cells HM Young, CJ Hearn, PG Farlie, AJ Canty, PQ Thomas, DF Newgreen Developmental biology 229 (2), 503-516, 2001 | 378 | 2001 |
| Large deletions induced by Cas9 cleavage F Adikusuma, S Piltz, MA Corbett, M Turvey, SR McColl, KJ Helbig, ... Nature 560 (7717), E8-E9, 2018 | 360 | 2018 |
| Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia PQ Thomas, MT Dattani, JM Brickman, D McNay, G Warne, M Zacharin, ... Human molecular genetics 10 (1), 39-45, 2001 | 347 | 2001 |
| Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency F Laumonnier, N Ronce, BCJ Hamel, P Thomas, J Lespinasse, ... The American Journal of Human Genetics 71 (6), 1450-1455, 2002 | 346 | 2002 |
| SOX3 is required during the formation of the hypothalamo-pituitary axis K Rizzoti, S Brunelli, D Carmignac, PQ Thomas, IC Robinson, ... Nature genetics 36 (3), 247-255, 2004 | 337 | 2004 |
| PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome SE Heron, BE Grinton, S Kivity, Z Afawi, SM Zuberi, JN Hughes, ... The American Journal of Human Genetics 90 (1), 152-160, 2012 | 316 | 2012 |
| Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation PS Tarpey, F Lucy Raymond, LS Nguyen, J Rodriguez, A Hackett, ... Nature genetics 39 (9), 1127-1133, 2007 | 313 | 2007 |
| Identification of SOX3 as an XX male sex reversal gene in mice and humans E Sutton, J Hughes, S White, R Sekido, J Tan, V Arboleda, N Rogers, ... The Journal of clinical investigation 121 (1), 328-341, 2011 | 304 | 2011 |
| Mutations in PHF6 are associated with BörjesonForssmanLehmann syndrome KM Lower, G Turner, BA Kerr, KD Mathews, MA Shaw, ÁK Gedeon, ... Nature genetics 32 (4), 661-665, 2002 | 252 | 2002 |
| NAD Deficiency, Congenital Malformations, and Niacin Supplementation. H Shi, A Enriquez, M Rapadas, E Martin, R Wang, J Moreau, C Lim, J Szot, ... New England Journal of Medicine 377 (6), 544-552, 2017 | 248 | 2017 |
| Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy MG Ricos, BL Hodgson, T Pippucci, A Saidin, YS Ong, SE Heron, ... Annals of neurology 79 (1), 120-131, 2016 | 224 | 2016 |
| Developmental regulation of Notch signaling genes in the embryonic pituitary: Prop1 deficiency affects Notch2 expression LT Raetzman, SA Ross, S Cook, SL Dunwoodie, SA Camper, PQ Thomas Developmental biology 265 (2), 329-340, 2004 | 169 | 2004 |
| Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation KP Burdon, JD McKay, MM Sale, IM Russell-Eggitt, DA Mackey, MG Wirth, ... The American Journal of Human Genetics 73 (5), 1120-1130, 2003 | 157 | 2003 |
