|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
|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
|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, RS Beddington
Development 125 (1), 85-94, 1998
|The homeobox gene Hex is required in definitive endodermal tissues for normal forebrain, liver and thyroid formation|
JP Martinez Barbera, M Clements, P Thomas, T Rodriguez, D Meloy, ...
Development 127 (11), 2433-2445, 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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome|
KM Lower, G Turner, BA Kerr, KD Mathews, MA Shaw, ÁK Gedeon, ...
Nature genetics 32 (4), 661-665, 2002
|Large deletions induced by Cas9 cleavage|
F Adikusuma, S Piltz, MA Corbett, M Turvey, SR McColl, KJ Helbig, ...
Nature 560 (7717), E8-E9, 2018
|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
|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
|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
|Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion|
G Agarwal, V Bhatia, S Cook, PQ Thomas
The Journal of Clinical Endocrinology & Metabolism 85 (12), 4556-4561, 2000