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Items: 1 to 20 of 42


Deficiency of the Wnt receptor Ryk causes multiple cardiac and outflow tract defects.

Kugathasan K, Halford MM, Farlie PG, Bates D, Smith DP, Zhang YF, Roy JP, Macheda ML, Zhang D, Wilkinson JL, Kirby ML, Newgreen DF, Stacker SA.

Growth Factors. 2018 Apr;36(1-2):58-68. doi: 10.1080/08977194.2018.1491848. Epub 2018 Jul 23.


The ontogeny of Robin sequence.

Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG.

Am J Med Genet A. 2018 Jun;176(6):1349-1368. doi: 10.1002/ajmg.a.38718. Epub 2018 Apr 25. Review.


Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG.

Am J Hum Genet. 2017 Dec 7;101(6):985-994. doi: 10.1016/j.ajhg.2017.10.006. Epub 2017 Nov 30.


Co-option of the cardiac transcription factor Nkx2.5 during development of the emu wing.

Farlie PG, Davidson NM, Baker NL, Raabus M, Roeszler KN, Hirst C, Major A, Mariette MM, Lambert DM, Oshlack A, Smith CA.

Nat Commun. 2017 Jul 25;8(1):132. doi: 10.1038/s41467-017-00112-7.


Limb patterning genes and heterochronic development of the emu wing bud.

Smith CA, Farlie PG, Davidson NM, Roeszler KN, Hirst C, Oshlack A, Lambert DM.

Evodevo. 2016 Dec 20;7:26. doi: 10.1186/s13227-016-0063-5. eCollection 2016.


Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies.

Xu JX, Kilpatrick N, Baker NL, Penington A, Farlie PG, Tan TY.

Mol Syndromol. 2016 Nov;7(6):322-328. Epub 2016 Sep 15.


Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

Farlie PG, Baker NL, Yap P, Tan TY.

Mol Syndromol. 2016 Nov;7(6):312-321. Epub 2016 Oct 29. Review.


Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report.

Breugem CC, Evans KN, Poets CF, Suri S, Picard A, Filip C, Paes EC, Mehendale FV, Saal HM, Basart H, Murthy J, Joosten KF, Speleman L, Collares MV, van den Boogaard MJ, Muradin M, Andersson ME, Kogo M, Farlie PG, Don Griot P, Mossey PA, Slator R, Abadie V, Hong P.

JAMA Pediatr. 2016 Sep 1;170(9):894-902. doi: 10.1001/jamapediatrics.2016.0796. Review.


Olfr603, an orphan olfactory receptor, is expressed in multiple specific embryonic tissues.

Baker NL, Miller KA, Newgreen DF, Farlie PG.

Gene Expr Patterns. 2015 Sep-Nov;19(1-2):30-5. doi: 10.1016/j.gep.2015.06.002. Epub 2015 Jun 23.


YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis.

Tan TY, Gordon CT, Miller KA, Amor DJ, Farlie PG.

Dev Dyn. 2015 Aug;244(8):1022-30. doi: 10.1002/dvdy.24299. Epub 2015 Jul 16.


A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

Miller KA, Tan TY, Welfare MF, White SM, Stark Z, Savarirayan R, Burgess T, Heggie AA, Caruana G, Bertram JF, Bateman JF, Farlie PG.

Mol Syndromol. 2014 Dec;5(6):276-86. doi: 10.1159/000368865. Epub 2014 Nov 8.


bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1.

Miller KA, Gordon CT, Welfare MF, Caruana G, Bertram JF, Bateman JF, Farlie PG.

PLoS One. 2013 Oct 15;8(10):e76342. doi: 10.1371/journal.pone.0076342. eCollection 2013.


Developmental and genetic perspectives on Pierre Robin sequence.

Tan TY, Kilpatrick N, Farlie PG.

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):295-305. doi: 10.1002/ajmg.c.31374. Epub 2013 Oct 11. Review.


Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.

Miller KA, Ah-Cann CJ, Welfare MF, Tan TY, Pope K, Caruana G, Freckmann ML, Savarirayan R, Bertram JF, Dobbie MS, Bateman JF, Farlie PG.

PLoS Genet. 2013 Aug;9(8):e1003746. doi: 10.1371/journal.pgen.1003746. Epub 2013 Aug 29.


Rare syndromes of the head and face-Pierre Robin sequence.

Tan TY, Farlie PG.

Wiley Interdiscip Rev Dev Biol. 2013 May-Jun;2(3):369-77. doi: 10.1002/wdev.69. Epub 2012 May 14.


Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease.

Caruana G, Farlie PG, Hart AH, Bagheri-Fam S, Wallace MJ, Dobbie MS, Gordon CT, Miller KA, Whittle B, Abud HE, Arkell RM, Cole TJ, Harley VR, Smyth IM, Bertram JF.

PLoS One. 2013;8(3):e55429. doi: 10.1371/journal.pone.0055429. Epub 2013 Mar 1.


Twist2 contributes to termination of limb bud outgrowth and patterning through direct regulation of Grem1.

Wade C, Brinas I, Welfare M, Wicking C, Farlie PG.

Dev Biol. 2012 Oct 1;370(1):145-53. doi: 10.1016/j.ydbio.2012.07.025. Epub 2012 Aug 1.


CXCL14 expression during chick embryonic development.

Gordon CT, Wade C, Brinas I, Farlie PG.

Int J Dev Biol. 2011;55(3):335-40. doi: 10.1387/ijdb.103258cg.


Phenotypic variability of distal 22q11.2 copy number abnormalities.

Tan TY, Collins A, James PA, McGillivray G, Stark Z, Gordon CT, Leventer RJ, Pope K, Forbes R, Crolla JA, Ganesamoorthy D, Burgess T, Bruno DL, Slater HR, Farlie PG, Amor DJ.

Am J Med Genet A. 2011 Jul;155A(7):1623-33. doi: 10.1002/ajmg.a.34051. Epub 2011 Jun 10.


Role of Dlx genes in craniofacial morphogenesis: Dlx2 influences skeletal patterning by inducing ectomesenchymal aggregation in ovo.

Gordon CT, Brinas IM, Rodda FA, Bendall AJ, Farlie PG.

Evol Dev. 2010 Sep-Oct;12(5):459-73. doi: 10.1111/j.1525-142X.2010.00432.x.


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