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Publications List

  1. Lee K, Tan J, Morris MB, Rizzoti K, Hughes J, Cheah PS, Felquer F, Liu X, Piltz S, Lovell-Badge R, Thomas PQCongenital hydrocephalus and abnormal subcommissural organ development in sox3 transgenic mice. PLoS One. 2012 ;7(1):e29041. Epub 2012 Jan 26.
  2. Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM. PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome. Am J Hum Genet. 2012 Jan 13;90(1):152-60.
  3. Ling K, Brautigan P, Hahn C, Daish T, Rayner J, Cheah P, Raison J, Piltz S, Mann J, Mattiske D, Thomas P, Adelson D, Scott H. Deep sequencing analysis of the developing mouse brain reveals a novel microRNA. BMC Genomics 2011 April 5;12(1):176 Epub
  4. Sutton E, Hughes J, Sekido R, Tan J, Arboleda V, Rogers N, Knower K, Rowley L, Eyer H, Rizzoti K, McAninch D, Goncalves J, Slee J, Turbitt E, Bruno D, Bengtsson H, Harley V, Vilain E, Sinclair A, Lovell-Badge R, Thomas P. Identification of SOX3 as an XX male sex reversal gene in mice and humans. J. Clin. Invest. 2011 Jan 4;121(1):328-41. Epub 2010 Dec 22.
  5. Schwartz J & Thomas P. Editorial for Special Issue of Molecular & Cellular Endocrinology on Developmental Biology of Endocrine Organs 2010 323, 1-3   
  6. Szarek E, Cheah PS, Schwartz J, Thomas P. Molecular genetics of the developing neuroendocrine hypothalamus. Mol Cell Endocrinol. 2010 Jul 8;323(1):115-23. Epub 2010 Apr 10. PubMed PMID: 20385202.   
  7. Ling KH, Hewitt CA, Beissbarth T, Hyde L, Banerjee K, Cheah PS, Cannon PZ, Hahn CN, Thomas PQ, Smyth GK, Tan SS, Thomas T, Scott HS. Transcriptome profiling of the developing mouse cerebral cortex reveals spatio-temporal regulation of Sox4 and Sox11 novel antisense transcripts. Genome Biology 2009 10: R104.   
  8. Benko S, Fantes JA, Amiel J, Kleinjan D, Thomas S, Ramsay J, Jamshidi N, Essafi A,Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, M Lees MM, Picard A, Temple IK, Thomas PQ, Vazquez M, Vekemans M, Crollius HR, Hastie ND, Munnich A, Etchevers H, Pelet A, Farlie PG, FitzPatrick DR, Lyonnet S. Highly conserved non-coding elements on either side of the SOX9 gene is associated with Pierre Robin sequence.
    Nature Genetics 2009 Feb 22; 41: 359-64.    
  9. Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C,Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A,Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG,Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J.X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.  Nature Genetics 2008 May 11; 40: 776-81  
  10. Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.  Nature Genetics 2007 Aug 19; 39: 1127-33   
  11. Wagner J, Lepore D and Thomas P.Q.Differentiation of mouse embryonic stem cells into growth hormone and prolactin expressing cells in vitro.  Mol. Cell. Endo. 2007 May 11; 273: 68-74  
  12. Lepore DA, Thomas GP, Knight KR, Hussey AJ, Callahan T, Wagner J, Morrison WA, Thomas PQSurvival and differentiation of pituitary colony forming cells in vivo.
    Stem Cells. 2007 Mar 29
  13. Wagner J, Thomas P.Genetic determinants of mammalian pituitary morphogenesis.
    Front Biosci. 2007 Jan 1;12:125-34.
  14. Wong J, Farlie P, Holbert S, Lockhart P, Thomas PQ. Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.Front Biosci. 2007 Jan 1;12:2085-95.
  15. Raetzman LT, Wheeler BS, Ross SA, Thomas PQ, Camper SA. Persistent expression of Notch2 delays gonadotrope differentiation. Mol Endocrinol. 2006 Nov;20(11):2898-908.
  16. Lepore DA, Jokubaitis VJ, Simmons PJ, Roeszler KN, Rossi R, Bauer K, Thomas PQ.
    A role for angiotensin-converting enzyme in the characterization, enrichment, and proliferation potential of adult murine pituitary colony-forming cells. Stem Cells. 2006 Nov;24(11):2382-90.
  17. Lepore DA, Roeszler K, Wagner J, Ross SA, Bauer K, Thomas PQ.
    Identification and enrichment of colony-forming cells from the adult murine pituitary. Exp Cell Res. 2005 Aug 1;308(1):166-76.
  18. Turton JP, Mehta A, Raza J, Woods KS, Tiulpakov A, Cassar J, Chong K, Thomas PQ, Eunice M, Ammini AC, Bouloux PM, Starzyk J, Hindmarsh PC, Dattani MT. Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). Clin Endocrinol (Oxf). 2005 Jul;63(1):10-8.
  19. Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.Am J Hum Genet. 2005 May;76(5):833-49.
  20. Wilson LD, Ross SA, Lepore DA, Wada T, Penninger JM, Thomas PQ.
    Developmentally regulated expression of the regulator of G-protein signaling gene 2 (Rgs2) in the embryonic mouse pituitary.Gene Expr Patterns. 2005 Feb;5(3):305-11.
  21. Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL, Forrest SM, Thomas PQ. Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.
    J Med Genet. 2004 Sep;41(9):669-78.
  22. Rizzoti K, Brunelli S, Carmignac D, Thomas PQ, Robinson IC, Lovell-Badge R.SOX3 is required during the formation of the hypothalamo-pituitary axis.
    Nat Genet. 2004 Mar;36(3):247-55. Epub 2004 Feb 15.
  23. Raetzman LT, Ross SA, Cook S, Dunwoodie SL, Camper SA, Thomas PQ. Developmental regulation of Notch signaling genes in the embryonic pituitary: Prop1 deficiency affects Notch2 expression.
    Dev Biol. 2004 Jan 15;265(2):329-40.
  24. Mitchell LA, Thomas PQ, Zacharin MR, Scheffer IE. Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism?AJNR Am J Neuroradiol. 2002 Oct;23(9):1475-81.
  25. Solomon NM, Nouri S, Warne GL, Lagerstrom-Fermer M, Forrest SM, Thomas PQ.
    Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism.
    Genomics. 2002 Apr;79(4):553-9.
  26. Young HM, Hearn CJ, Farlie PG, Canty AJ, Thomas PQ, Newgreen DF. GDNF is a chemoattractant for enteric neural cells. Dev Biol. 2001 Jan 15;229(2):503-16.
  27. Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson IC, Beddington RS.
    Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.Hum Mol Genet. 2001 Jan 1;10(1):39-45.
  28. Agarwal G, Bhatia V, Cook S, Thomas PQ. Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.J Clin Endocrinol Metab. 2000 Dec;85(12):4556-61.
  29. Dattani ML, Martinez-Barbera J, Thomas PQ, Brickman JM, Gupta R, Wales JK, Hindmarsh PC, Beddington RS, Robinson IC. Molecular genetics of septo-optic dysplasia.Horm Res. 2000;53 Suppl 1:26-33. Review.
  30. Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Wales JK, Hindmarsh PC, Beddington RS, Robinson IC. HESX1: a novel gene implicated in a familial form of septo-optic dysplasia. Acta Paediatr Suppl. 1999 Dec;88(433):49-54. Review.
  31. Jones CM, Broadbent J, Thomas PQ, Smith JC, Beddington RS. An anterior signalling centre in Xenopus revealed by the homeobox gene XHex. Curr Biol. 1999 Sep 9;9(17):946-54.
  32. Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Martensson IL, Toresson H, Fox M, Wales JK, Hindmarsh PC, Krauss S, Beddington RS, Robinson IC. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet. 1998 Jun;19(2):125-33.
  33. Thomas PQ, Brown A, Beddington RS.  Hex: a homeobox gene revealing peri-implantation asymmetry in the mouse embryo and an early transient marker of endothelial cell precursors.Development. 1998 Jan;125(1):85-94.
  34. Thomas PQ, Johnson BV, Rathjen J, Rathjen PD. Sequence, genomic organization, and expression of the novel homeobox gene Hesx1.J Biol Chem. 1995 Feb 24;270(8):3869-75.
  35. Webb GC, Thomas PQ, Ford JH, Rathjen PD. Hesx1, a homeobox gene expressed by murine embryonic stem cells, maps to mouse chromosome 14, bands A3-B.
    Genomics. 1993 Nov;18(2):464-6.
  36. Thomas PQ, Rathjen PD. HES-1, a novel homeobox gene expressed by murine embryonic stem cells, identifies a new class of homeobox genes.
    Nucleic Acids Res. 1992 Nov 11;20(21):5840. 
Laboratory of Developmental Genetics

School of Molecular & Biomedical Science
Level 3, Molecular Life Sciences
North Terrace Campus
The University of Adelaide
SA 5005


Dr. Paul Thomas
T: +61 8 8313 7047
F: +61 8 8313 4362