Exome sequencing and array-based comparative genomic hybridisation analysis of preferential 6-methylmercaptopurine producers von Chua, E W, Cree, S, Barclay, M L, Doudney, K, Lehnert, K, Aitchison, A, Kennedy, M A

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Autosomal-dominant Ankyloglossia and Tooth Number Anomalies von Acevedo, A.C., da Fonseca, J.A.C., Grinham, J., Doudney, K., Gomes, R.R., de Paula, L.M., Stanier, P.

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TBX22 mutations are a frequent cause of cleft palate von Marçano, A C B, Doudney, K, Braybrook, C, Squires, R, Patton, M A, Lees, M M, Richieri-Costa, A, Lidral, A C, Murray, J C, Moore, G E, Stanier, P

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Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects von Doudney, K., Grinham, J., Whittaker, J., Lynch, S.A., Thompson, D., Moore, G.E., Copp, A.J., Greene, N.D.E., Stanier, P.

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Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralogue Vangl1 in neural tube defect patients von Doudney, K., Moore, G.E., Stanier, P., Ybot-Gonzalez, P., Paternotte, C., Greene, N.D.E., Copp, A.J., Stevenson, R.E.

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Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse von Murdoch, Jennifer N., Henderson, Deborah J., Doudney, Kit, Gaston-Massuet, Carles, Phillips, Helen M., Paternotte, Caroline, Arkell, Ruth, Stanier, Philip, Copp, Andrew J.

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Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification von MURDOCH, Jennifer N, DOUDNEY, Kit, PATERNOTTE, Caroline, COPP, Andrew J, STANIER, Philip

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Correction: G-quadruplex structures and CpG methylation cause drop-out of the maternal allele in polymerase chain reaction amplification of the imprinted MEST gene promoter

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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families von Guimier, A, Achleitner, MT, De Bellaing, AM, Edwards, M, De Pontual, L, Mittal, K, Dunn, KE, Grove, ME, Tysoe, CJ, Dimartino, C, Cameron, J, Kanthi, A, Shukla, A, Van den Broek, F, Chatterjee, D, Alston, CL, Knowles, CV, Brett, L, Till, JA, Homfray, T, French, P, Spentzou, G, Elserafy, NA, Lichkus, KS, Sankaran, BP, Kennedy, HL, George, PM, Kidd, A, Wortmann, SB, Fisk, DG, Koopmann, TT, Rafiq, MA, Merker, JD, Parikh, S, Ahimaz, P, Weintraub, RG, Ma, AS, Turner, C, Ellaway, CJ, Phillips, LK, Thorburn, DR, Chung, WK, Kana, SL, Faye-Petersen, OM, Thompson, ML, Janin, A, McLeod, K, McGowan, R, McFarland, R, Girisha, KM, Morris-Rosendahl, DJ, Hurst, ACE, Turner, CLS, Hamilton, RM, Taylor, RW, Bajolle, F, Gordon, CT, Amiel, J, Mayr, JA, Doudney, K

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TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate Affect DNA Binding, Sumoylation, and Transcriptional Repression von Andreou, Artemisia M., Pauws, Erwin, Jones, Marius C., Singh, Manvendra K., Bussen, Markus, Doudney, Kit, Moore, Gudrun E., Kispert, Andreas, Brosens, Jan J., Stanier, Philip

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The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia von Arnason, Alfred, Marçano, Ana Carolina B, Braybrook, Claire, Goodfellow, Paul J, Doudney, Kit, Moore, Gudrun E, Patton, Michael A, Stanier, Philip, Bjornsson, Arni

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Upstream genetic variant near INSIG2, influences response to carnitine supplementation in bipolar patients with valproate-induced weight gain von Doudney, K, Harley, JA, Pearson, JF, Miller, A, Aitchison, A, Kennedy, MA, Porter, RJ, Elmslie, JL, Joyce, PR

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Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralog Vangl1 in neural tube defect patients (Am J Med Genet 136A: 90-92, 2005) von Doudney, K., Moore, G.E., Stanier, P., Ybot-Gonzalez, P., Paternotte, C., Greene, N.D.E., Copp, A.J., Stevenson, R.E.

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A family with pseudodominant Friedreich’s ataxia showing marked variation of phenotype between affected siblings von Webb, Stewart, Doudney, Kit, Pook, Mark, Chamberlain, Susan, Hutchinson, Michael

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Abnormal folate metabolism in foetuses affected by neural tube defects von Dunlevy, Louisa P. E., Chitty, Lyn S., Burren, Katie A., Doudney, Kit, Stojilkovic-Mikic, Taita, Stanier, Philip, Scott, Rosemary, Copp, Andrew J., Greene, Nicholas D. E.

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Proceedings of the scientific meetings of the Health Research Society of Canterbury 2017 von Phillips, E

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PPA2 gene is involved in neonatal fatal acute dilated cardiomyopathy von Moreau De Bellaing, A., Guimier, A., Bajolle, F., Turner, C., Grove, M., Dunn, K., Katta, G., Crozier, I., Kidd, A., Mayr, J., Rotig, A., Di Rago, J.P., Delahodde, A., Lyonnet, S., Doudney, K., Kennedy, H., Amiel, J., Gordon, C., Bonnet, D.

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Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients von Braybrook, Claire, Lisgo, Steven, Doudney, Kit, Henderson, Deborah, Marçano, Ana Carolina B., Strachan, Tom, Patton, Michael A., Villard, Laurent, Moore, Gudrun E., Stanier, Philip, Lindsay, Susan

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PPA2 gene is involved in neonatal fatal acute dilated cardiomyopathy von Bellaing, A. Moreau de, Guimier, A., Bajolle, F., Turner, C., Grove, M., Dunn, K., Katta, G., Crozier, I., Kidd, A., Mayr, J., Rotig, A., Di Rago, JP, Delahodde, A., Lyonnet, S., Kennedy, H., Doudney, K., Amiel, J., Gordon, C., Bonnet, D.

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Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q von CHAMBERLAIN, S, FARRALL, M, FUJITA, R, KOENIG, M, MANDEL, J.-L, PALAU, F, MONROS, E, VILCHEZ, J, PRIETO, F, RICHTER, A, VANASSE, M, MELANCON, S, SHAW, J, COCOZZA, S, REDOLFI, E, CAVALCANTI, F, PIANESE, L, FILLA, A, DIDONATO, S, PANDOLFO, M, WILKES, D, CARVAJAL, J, HILLERMAN, R, DOUDNEY, K, HARDING, A. E, WILLIAMSON, R, SIRUGO, G

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