Dr David Markie

Markie, D. M. (Ed.). (1996). YAC Protocols. (Methods in Molecular Biology 54). Totowa, NJ: Humana Press, 372p. doi: 10.1385/0896033139

Edited Book - Research

Markie, D. (2006). Markers, selection, and media in yeast artificial chromosome cloning. In A. MacKenzie (Ed.), YAC Protocols. (2nd ed.) (pp. 1-12). Totowa, NJ: Humana Press.

Chapter in Book - Research

Markie, D., Jones, E., & Ragoussis, J. (2006). Genomic reconstruction by serial mitotic recombination of yeast artificial chromosomes. In A. MacKenzie (Ed.), YAC Protocols. (2nd ed.) (pp. 117-126). Totowa, NJ: Humana Press.

Chapter in Book - Research

Markie, D. M. (1996). Markers, selection, and media in YAC cloning. In D. M. Markie (Ed.), YAC Protocols. (Methods in Molecular Biology 54). (pp. 359-371). Totowa, NJ: Humana Press.

Chapter in Book - Research

Markie, D. M., & Ragoussis, I. (1995). Genomic reconstruction by mitotic recombination of YACs. In D. M. Markie (Ed.), YAC Protocols. (Methods in Molecular Biology 54). (pp. 217-230). Totowa, NJ: Humana Press.

Chapter in Book - Research

Halliday, B. J., Baynam, G., Ewans, L., Greenhalgh, L., Leventer, R. J., Pilz, D. T., … Markie, D. M., … Robertson, S. P., & Mandelstam, S. (2022). Distinctive brain malformations in Zhu-Tokita-Takenouchi-Kim syndrome. American Journal of Neuroradiology, 43(11), 1660-1666. doi: 10.3174/ajnr.A7663

Journal - Research Article

Powell, R. M., Pattison, S., Moravec, J. C., Bhat, B., Guirguis, N., Markie, D., Jones, G. T., … Print, C. G., Morison, I. M., Gavryushkin, A., … Eccles, M. R., & Macaulay, E. C. (2022). Tuberous sclerosis complex: A complex case. Molecular Case Studies, 8, a006182. doi: 10.1101/mcs.a006182

Journal - Research Article

Takei, R., Cadzow, M., Markie, D., Bixley, M., Phipps-Green, A., Major, T. J., … Stamp, L. K., … Merriman, T. R., & Wei, W.-H. (2021). Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects. Journal of Human Genetics, 66, 161-169. doi: 10.1038/s10038-020-0821-z

Journal - Research Article

Peng, H., Jenkins, Z. A., White, R., Connors, S., Hunter, M. F., Ronan, A., … Markie, D. M., … Robertson, S. P. (2020). An activating variant in CTNNB1 is associated with a sclerosing bone dysplasia and adrenocortical neoplasia. Journal of Clinical Endocrinology & Metabolism, 105(3), 688-695. doi: 10.1210/clinem/dgaa034

Journal - Research Article

Gowans, L. J. J., Cameron-Christie, S., Slayton, R. L., Busch, T., Romero-Bustillos, M., Eliason, S., … Drummond, B. K., Markie, D. M., Jansen van Vuuren, W., Jansen van Vuuren, L., … van Staden, I., … Robertson, S. P., & Butali, A. (2019). Missense pathogenic variants in KIF4A affect dental morphogenesis resulting in X-linked taurodontism, microdontia and dens-invaginatus. Frontiers in Genetics, 10, 800. doi: 10.3389/fgene.2019.00800

Journal - Research Article

Cameron-Christie, S. R., Wells, C. F., Simon, M., Wessels, M., Tang, C. Z. N., Wei, W., Takei, R., … Markie, D. M., Jenkins, Z. A., & Robertson, S. P. (2018). Recessive spondylocarpotarsal synostosis syndrome due to compound heterozygosity for variants in MYH3. American Journal of Human Genetics, 102(6), 1115-1125. doi: 10.1016/j.ajhg.2018.04.008

Journal - Research Article

Cameron-Christie, S. R., Wilde, J., Gray, A., Tankard, R., Bahlo, M., Markie, D., … Robertson, S. P. (2018). Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family. BMC Medical Genomics, 11, 121. doi: 10.1186/s12920-018-0440-0

Journal - Research Article

Halliday, B. J., Fukuzawa, R., Markie, D. M., Grundy, R. G., Ludgate, J. L., Black, M. A., … Weeks, R. J., … Morison, I. M. (2018). Germline mutations and somatic inactivation of TRIM28 in Wilms tumour. PLoS Genetics, 14(6), e1007399. doi: 10.1371/journal.pgen.1007399

Journal - Research Article

Jenkins, Z. A., Macharg, A., Chang, C.-Y., van Kogelenberg, M., Morgan, T., Frentz, S., Wei, W., … Markie, D. M., … Robertson, S. P. (2018). Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies. Human Mutation, 39(1), 103-113. doi: 10.1002/humu.23355

Journal - Research Article

McKeown, C., Connors, S., Stapleton, R., Morgan, T., Hayes, I., Neas, K., … Markie, D. M., … Robertson, S. P. (2018). A pilot study of exome sequencing in a diverse New Zealand cohort with undiagnosed disorders and cancer. Journal of the Royal Society of New Zealand, 48(4), 262-279. doi: 10.1080/03036758.2018.1464033

Journal - Research Article

O'Neill, A. C., Kyrousi, C., Einsiedler, M., Burtscher, I., Drukker, M., Markie, D. M., … Robertson, S. P., & Cappello, S. (2018). Mob2 insufficiency disrupts neuronal migration in the developing cortex. Frontiers in Cellular Neuroscience, 12, 57. doi: 10.3389/fncel.2018.00057

Journal - Research Article

O'Neill, A. C., Kyrousi, C., Klaus, J., Leventer, R. J., Kirk, E. P., Fry, A., … Markie, D. M., … Robertson, S. P. (2018). A primate-specific Isoform of PLEKHG6 regulates neurogenesis and neuronal migration. Cell Reports, 25(10), 2729-2741. doi: 10.1016/j.celrep.2018.11.029

Journal - Research Article

Di Gioia, S. A., Connors, S., Matsunami, N., Cannavino, J., Rose, M. F., Gilette, N. M., … Morgan, T., … Markie, D. M., … Robertson, S. P., … Engle, E. C. (2017). A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature Communications, 8, 16077. doi: 10.1038/ncomms16077

Journal - Research Article

Glendining, K. A., Markie, D., Gardner, R. J. M., Franz, E. A., Robertson, S. P., & Jasoni, C. L. (2017). A novel role for the DNA repair gene Rad51 in Netrin-1 signalling. Scientific Reports, 7, 39823. doi: 10.1038/srep39823

Journal - Research Article

Méneret, A., Franz, E. A., Trouillard, O., Oliver, T. C., Zagar, Y., Robertson, S. P., … Gardner, R. J. M., … Jasoni, C. L., … Markie, D. (2017). Mutations in the netrin-1 gene cause congenital mirror movements. Journal of Clinical Investigation, 127(11), 3923-3936. doi: 10.1172/jci95442

Journal - Research Article

Stayner, C., Poole, C. A., McGlashan, S. R., Pilanthananond, M., Brauning, R., Markie, D., … Slobbe, L., … Parker, K., Wiles, A., … Leichter, A., Leask, M., … Jennings, M., Horsfield, J. A., Walker, R. J., & Eccles, M. R. (2017). An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations. Scientific Reports, 7, 1601. doi: 10.1038/s41598-017-01519-4

Journal - Research Article

Oliver, V. F., van Bysterveldt, K. A., Cadzow, M., Steger, B., Romano, V., Markie, D., … Vincent, A. L. (2016). A COL17A1 splice-altering mutation is prevalent in inherited recurrent corneal erosions. Ophthalmology, 123(4), 709-722. doi: 10.1016/j.ophtha.2015.12.008

Journal - Research Article

Wade, E. M., Daniel, P. B., Jenkins, Z. A., McInerney-Leo, A., Leo, P., Morgan, T., … Markie, D. M., & Robertson, S. P. (2016). Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. American Journal of Human Genetics, 99(2), 392-406. doi: 10.1016/j.ajhg.2016.05.024

Journal - Research Article

Bunn, K. J., Daniel, P., Rösken, H. S., O'Neill, A. C., Cameron-Christie, S. R., Morgan, T., … Markie, D. M., & Robertson, S. P. (2015). Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. American Journal of Human Genetics, 96(4), 623-630. doi: 10.1016/j.ajhg.2015.02.010

Journal - Research Article

Franz, E. A., Chiaroni-Clarke, R., Woodrow, S., Glendining, K. A., Jasoni, C. L., Robertson, S. P., Gardner, R. J. M., & Markie, D. (2015). Congenital mirror movements: Phenotypes associated with DCC and RAD51 mutations. Journal of the Neurological Sciences, 351(1-2), 140-145. doi: 10.1016/j.jns.2015.03.006

Journal - Research Article

Gray, M. J., Kannu, P., Sharma, S., Neyt, C., Zhang, D., Paria, N., Daniel, P. B., … Wilson, M. J., … Markie, D. M., … Robertson, S. P. (2015). Mutations preventing regulated exon skipping in MET cause osteofibrous dysplasia. American Journal of Human Genetics, 97(6), 837-847. doi: 10.1016/j.ajhg.2015.11.001

Journal - Research Article

Cappello, S., Gray, M. J., Badouel, C., Lange, S., Einsiedler, M., Srour, M., … Jenkins, Z. A., Morgan, T., Preitner, N., … Black, M. A., Markie, D., … Robertson, S. P. (2013). Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nature Genetics, 45(11), 1300-1308. doi: 10.1038/ng.2765

Journal - Research Article

Tiffin, H. R., Jenkins, Z. A., Gray, M. J., Cameron-Christie, S. R., Eaton, J., Aftimos, S., Markie, D., & Robertson, S. P. (2013). Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery—Dreifuss muscular dystrophy plus phenotype. Neurogenetics, 14(2), 113-121. doi: 10.1007/s10048-013-0359-8

Journal - Research Article

Debono, R., Topless, R., Markie, D., Black, M. A., & Merriman, T. R. (2012). Analysis of the DISC1 translocation partner (11q14.3) in genetic risk of schizophrenia. Genes, Brain & Behavior, 11(7), 859-963. doi: 10.1111/j.1601-183X.2012.00832.x

Journal - Research Article

Wilson, J., Markie, D., & Fitches, A. (2012). Cholecystokinin system genes: Associations with panic and other psychiatric disorders. Journal of Affective Disorders, 136(3), 902-908. doi: 10.1016/j.jad.2011.09.011

Journal - Research Article

Sears, C., Markie, D., Olds, R., & Fitches, A. (2011). Evidence of associations between bipolar disorder and the brain-derived neurotrophic factor (BDNF) gene. Bipolar Disorders, 13(7-8), 630-637. doi: 10.1111/j.1399-5618.2011.00955.x

Journal - Research Article

Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S. C., Li, Y., … Markie, D., Gray, M., … Robertson, S., … Kornak, U. (2009). Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics, 41(9), 1016-1021. doi: 10.1038/ng.413

Journal - Research Article

Vincent, A. L., Markie, D. M., De Karolyi, B., Wheeldon, C. E., & Patel, D. V. (2009). Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy. Molecular Vision, 15(182), 1700-1708.

Journal - Research Article

van Roij, M. H. H., Mizumoto, S., Yamada, S., Morgan, T., Tan-Sindhunata, M. B., Meijers-Heijboer, H., … Markie, D., … Robertson, S. P. (2008). Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype. American Journal of Medical Genetics Part A, 146A(18), 2376-2384. doi: 10.1002/ajmg.a.32482

Journal - Research Article

Prime, G., & Markie, D. (2005). The telomere repeat binding protein Trf1 interacts with the spindle checkpoint protein Mad1 and Nek2 mitotic kinase. Cell Cycle, 4(1), 121-124.

Journal - Research Article

Semple, J. I., Prime, G., Wallis, L. J., Sanderson, C. M., & Markie, D. (2005). Two-hybrid reporter vectors for gap repair cloning. Biotechniques, 38(6), 927-934.

Journal - Research Article

Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, K., Aldred, M., Hampel, H., … Markie, D., … Eng, C. (2001). Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. American Journal of Human Genetics, 69, 704-711.

Journal - Research Article

Morris, C. M., Haataja, L., McDonald, M., Gough, S., Markie, D., Groffen, J., & Heisterkamp, N. (2000). The small GTPase RAC3 gene is located within chromosome band 17q25.3 outside and telomeric of a region commonly deleted in breast and ovarian tumours. Cytogenetics & Cell Genetics, 89, 18-23.

Journal - Research Article

Woodford-Richens, K., Bevan, S., Churchman, M., Dowling, B., Jones, D., Norbury, C. G., … Markie, D. M., … Houlston, R. S. (2000). Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut, 46, 656-660.

Journal - Research Article

Bevan, S., Woodford-Richens, K., Rozen, P., Eng, C., Young, J., Dunlop, M., … Markie, D. M., … Tomlinson, I. (1999). Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis sydrome. Gut, 45, 406-408.

Journal - Research Article

Ylikorkala, A., Avizienyte, E., Tomlinson, I., Tiainen, M., Roth, S., Loukola, A., … Markie, D., … Aaltonen, L. (1999). Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. Human Molecular Genetics, 8, 45-51.

Journal - Research Article

Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., Roth, S., Loukola, A., … Toro, T., … Aaltonen, L. (1998). A serine / threonine kinase gene defective in Peutz-Jeghers syndrome. Nature, 391, 184-187.

Journal - Research Article

Houlston, R., Bevan, S., Williams, A., Young, J., Dunlop, M., Rozen, P., … Markie, D., … Tomlinson, I. (1998). Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. Human Molecular Genetics, 7, 1907-1912.

Journal - Research Article

Olschwang, S., Markie, D., Seal, S., Neale, K., Phillips, R., Cottrell, S., … Tomlinson, I. (1998). Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. Journal of Medical Genetics, 35, 42-44.

Journal - Research Article

Carstea, E. D., Morris, J. A., Coleman, K. G., Loftus, S. K., Zhang, D., Cummings, C., … Markie, D., … Tagle, D. A. (1997). Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science, 277(5323), 228-231.

Journal - Research Article

Hemminki, A., Tomlinson, I., Markie, D., Järvinen, H., Sistonen, P., Björkqvist, A.-M., … Aaltonen, L. A. (1997). Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nature Genetics, 15(1), 87-90.

Journal - Research Article

Marsh, D., Roth, S., Lunetta, K., Hemminki, A., Dahia, P., Sistonen, P., … Markie, D., … Eng, C. (1997). Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. Cancer Research, 57(22), 5017-5021.

Journal - Research Article

Tomlinson, I., Beck, N., Homfray, T., Harocopos, C., Adams, M., Hodgson, S., Markie, D., & Bodmer, W. (1997). Molecular and clinico-pathological features of two families with the HNPCC syndrome and unusual phenotypes. GI Cancer, 2, 89-98.

Journal - Research Article

Markie, D. M. (1996). A simple assay for optimizing yeast-mammalian cell fusion conditions. Molecular Biotechnology, 6(2), 99-104.

Journal - Research Article

Markie, D. M., Husos, S., Maher, E., Davies, A. F., Tomlinson, I., & Bodmer, W. F. (1996). A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map. Human Genetics, 98, 125-128.

Journal - Research Article

Thomas, H. W. J., Whitelaw, S. C., Cottrell, S. E., Murday, V. A., Tomlinson, I. P. M., Markie, D. M., … Bodmer, W. F. (1996). Genetic mapping of hereditary mixed polyposis syndrome to chromosone 6q. American Journal of Human Genetics, 58, 770-776.

Journal - Research Article

Tomlinson, I. P. M., Olschwang, S., Abelovitch, D., Nakamura, Y., Bodmer, W. F., Thomas, G., & Markie, D. M. (1996). Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz-Jeghers' disease. Annals of Human Genetics, 60(5), 377-384.

Journal - Research Article

Markie, D. M. (1995). Arrayed preparation of YAC DNA for pulsed field gel analysis. Nucleic Acids Research, 23, 4526-4527.

Journal - Research Article

Fukushima, K., Parthasarathy, P., Wade, E. M., Morgan, T., Gowrishankar, K., Markie, D. M., & Robertson, S. P. (2021). Intragenic deletions in FLNB are part of the mutational spectrum causing spondylocarpotarsal synostosis syndrome. Genes, 12(4), 528. doi: 10.3390/genes12040528

Journal - Research Other

Driver, S. G. W., Jackson, M. R., Richter, K., Tomlinson, P., Brockway, B., Halliday, B. J., Markie, D. M., Robertson, S. P., & Wade, E. M. (2020). Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype. European Journal of Human Genetics, 28, 445-452. doi: 10.1038/s41431-019-0546-7

Journal - Research Other

Mi, J., Parthasarathy, P., Halliday, B. J., Morgan, T., Dean, J., Nowaczyk, M. J. M., Markie, D., Robertson, S. P., & Wade, E. M. (2020). Deletion of exon 1 in AMER1 in osteopathia striata with cranial sclerosis. Genes, 11, 1439. doi: 10.3390/genes11121439

Journal - Research Other

Wilson, J., Markie, D., & Fitches, A. (2011). Analysis of associations for candidate genes with anxiety disorders [Letter to the editor]. Psychiatry Research, 189(30), 624-625. doi: 10.1016/j.psychres.2011.06.021

Journal - Research Other