Dr David Markie

2023

Conference Contribution - Published proceedings: Abstract

Halliday, B. J., Markie, D., Goodin, E., Black, M., Sporle, A., Watson, H., Wilcox, P., & Robertson, S. P. (2023). Detection and mitigation of microbiome DNA presence in saliva-derived whole genome sequence data. Proceedings of the eResearch NZ Conference. (pp. 43). Retrieved from www.eresearchnz2023.org.nz

2022

Journal - Research Article

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

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

2021

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 Other

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

Conference Contribution - Published proceedings: Abstract

Halliday, B. J., Jenkins, Z. A., Markie, D. M., & Robertson, S. P. (2021). Building a brain: From genes to phenotypes. New Zealand Medical Journal, 134(1537), (pp. 109-110). Retrieved from https://www.nzma.org.nz/journal

2020

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 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

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

2019

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

Conference Contribution - Published proceedings: Abstract

Robertson, S. P., Cameron-Christie, S., Wells, C. F., Simon, M., Wessels, M., Tang, C. Z. N., Wei, W., Takei, R., … Markie, D. M., & Jenkins, Z. A. (2019). Recessive spondylocarpotarsal syndrome due to compound heterozygosity for variants in MYH3. European Journal of Human Genetics, 27(Suppl. 1), (pp. 821). doi: 10.1038/s41431-019-0407-4

2018

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

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

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

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

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

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

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

2017

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

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

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

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

Conference Contribution - Published proceedings: Abstract

Robertson, S., Cameron-Christie, S., Wells, C., Tang, C., Simon, M., Wessels, M., Markie, D., Wei, W., … Jenkins, Z. (2017). A recessive skeletal dysplasia due to compound heterozygosity for bi-allelic variants in MYH3. Proceedings of the Annual Conference of the Genetics Society of Australasia (GSA) with the New Zealand Society for Biochemistry and Molecular Biology (NZSBMB). 705. Retrieved from http://gen2017.w.events4you.currinda.com

Di Gioia, S. A., Connors, S., Matsunami, N., Cannavino, J., Rose, M. F., Gilette, N. M., … Markie, D. M., … Robertson, S. P., … Moebius Syndrome Research Consortium. (2017). Recessive mutations in the fusiogenic protein myomaker cause Carey-Fineman-Ziter syndrome. Proceedings of the American Society of Human Genetics (ASHG) Annual Meeting. 172. Retrieved from http://www.ashg.org/2017meeting/

Verdin, H., Shelling, A., Markie, D., Vincent, A. L., & De Baere, E. (2017). Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES. Proceedings of the American Society of Human Genetics (ASHG) Annual Meeting. 1625. Retrieved from http://www.ashg.org/2017meeting/

Wade, E. M., Jenkins, Z. A., Daniel, P. B., McInerney-Leo, A., Leo, P. J., Morgan, T., … Markie, D. M., & Robertson, S. P. (2017). Mutations in MAP3K7 and TAB2 cause a distinct autosomal dominant form of frontometaphyseal dysplasia through a gain-of-function mechanism. Proceedings of the Joint Meeting of the Australian & New Zealand Bone & Mineral Society (ANZBMS) and the International Federation of Musculoskeletal Research Societies IFMRS). 2. Retrieved from http://www.anzbms-ifmrs.org/

2016

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

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

Conference Contribution - Published proceedings: Abstract

Verdin, H., Shelling, A., Markie, D., Vincent, A. L., & De Baere, E. (2016). Non-coding variant in a remote and putative enhancer in the cis-regulatory domain of FOXL2 found in a multigenerational Polynesian family with BPES. European Journal of Human Genetics, 24(E-Suppl. 1), (pp. 307). [Abstract]

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 and TAB2 that alter the activity of the TAK1 signalling complex cause frontometaphyseal dysplasia. European Journal of Human Genetics, 24(E-Suppl. 1), (pp. 33). [Abstract]

2015

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

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

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

Conference Contribution - Verbal presentation and other Conference outputs

Cameron-Christie, S., Evans, H., Markie, D., Tankard, R., Smith, K., Bahlo, M., & Robertson, S. (2015, August-September). Mapping shared, genome-wide markers in a New Zealand Māori population to understand a childhood liver disease. Verbal presentation at the Queenstown Molecular Biology (QMB) Meetings, Queenstown, New Zealand.

2013

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

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

2012

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

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

Conference Contribution - Poster Presentation (not in published proceedings)

Debono, R., Topless, R., Markie, D., Black, M. A., & Merriman, T. R. (2012, August). Assessment of genetic association of the DISC1 translocation partner 11q14.3 with schizophrenia. Poster session presented at the Queenstown Molecular Biology (QMB) Meetings, Queenstown, New Zealand.

Conference Contribution - Verbal presentation and other Conference outputs

Manners, S., Crawford, H., Robertson, S., Gray, M., & Markie, D. (2012, October). Finding the gene mutation causative of familial congenital bowing of the tibia with pseudarthrosis and pectus excarvatum. Verbal presentation at the New Zealand Orthopaedic Association (NZOA) Annual Scientific Meeting, Dunedin, New Zealand.

Stayner, C., Lett, B., Slobbe, L., Wiles, A., Jennings, M., Markie, D., … Johnstone, A. C., Walker, R. J., Poole, C. A., & Eccles, M. (2012, August). Renal cystic disease: Developing an ovine model. Verbal presentation at the Translational Nephrology Conference: From Mechanics to Therapeutics, Queenstown, New Zealand.

2011

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 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

Conference Contribution - Poster Presentation (not in published proceedings)

Eccles, M. R., Lett, B., Stayner, C., Wiles, A., Slobbe, L., Parker, K., Johnstone, A. C., Walker, R. J., … Markie, D. (2011, October). Genetic and phenotypic characterization of an ovine large animal model of the MKS/JBTS/NPHP ciliopathy, Meckel-Gruber syndrome. Poster session presented at the 12th International Congress of Human Genetics (ICHG) and 61st Annual Meeting of the American Society of Human Genetics (ASHG), Montreal, Canada.

Wiles, A., Lett, B., Stayner, C., Slobbe, L., Markie, D., McEwan, J., Johnstone, A. C., Walker, R. J., Poole, C. A., & Eccles, M. (2011, June-July). A large animal ciliopathy: Genetic characterization of an ovine model of Meckel-Gruber syndrome. Poster session presented at the FASEB Summer Research Conference: Polycystic Kidney Disease: From Bench to Bedside, Saxtons River, Vermont.

Conference Contribution - Verbal presentation and other Conference outputs

Stayner, C., Lett, B., Slobbe, L., Wiles, A., Markie, D., McEwan, J., … Walker, R. J., Poole, C. A., & Eccles, M. (2011, September). Novel missense mutations in an ovine model of Meckel-Gruber Syndrome. Verbal presentation at the Queenstown Molecular Biology (QMB) Meetings, Queenstown, New Zealand.

2010

Conference Contribution - Verbal presentation and other Conference outputs

Wilson, J., Fitches, A., & Markie, D. (2010, May). Cholecystokinin system genetics and panic. Verbal presentation at the Royal Australian & New Zealand College of Psychiatrists (RANZCP), Auckland, New Zealand.

2009

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.

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

Conference Contribution - Published proceedings: Abstract

Lett, B., Stayner, C., Mahon, C., Markie, D., McEwan, J., & Eccles, M. R. (2009). Searching for a mutation in the Meckel-Gruber syndrome gene, TMEM67, in a sheep model of autosomal recessive polycystic kidney disease. Proceedings of the ComBio2009 Conference. [CD-ROM] [Abstract]

Vincent, A. L., Markie, D. M., De Karolyi, B., Wheeldon, C. E., Grupcheva, C. N., & McGhee, C. N. J. (2009). Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a variant anterior membrane corneal dystrophy with recurrent erosions and large flecks. Proceedings of the Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting. Retrieved from http://arvo.abstractsonline.com/plan/AdvancedSearch.aspx

2008

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

Conference Contribution - Published proceedings: Abstract

Cawston, E. E., Fitches, A., Markie, D., & Olds, R. J. (2008). A role for filamin in the function of the 5-HT2A receptor. Proceedings of the Society for Neuroscience 38th Annual Meeting. SfN. Retrieved from http://www.abstractsonline.com/plan/AdvancedSearch.aspx

2006

Chapter in 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.

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.

2005

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.

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.

Conference Contribution - Published proceedings: Abstract

Markie, D., & Wallis, L. (2005). A protein phosphatase 2A regulatory subunit can modulate the spindle assembly checkpoint. European Journal of Human Genetics, 13(Suppl. 1), (pp. 189). [Abstract]

2004

Conference Contribution - Published proceedings: Abstract

Gough, S. M., Benjes, S., Markie, D., Heaton, D., Spearing, R., Ganly, P., & Morris, C. M. (2004). Dangerous liaison? A novel T(5;10) translocation in acute lymphoblastic leukaemia. Proceedings of the New Zealand Society for Oncology Conference. (pp. 47). [Abstract]

Markie, D., Wallis, L., Harvey, J., & Prime, G. (2004). Identifying new components of the mammalian spindle checkpoint using functional genomic approaches. Proceedings of the Human Genome Meeting. (pp. 27). [Abstract]

Conference Contribution - Poster Presentation (not in published proceedings)

Cawston, E. E., Fitches, A., Markie, D., & Olds, R. (2004, November/December). The cytoplasmic tail of serotonin receptor 2A interacts with filamin-C but not filamin-A. Poster session presented at the Fourteenth Annual Molecular Biology Meeting, Queenstown, New Zealand.

Cawston, E. E., Chow, K., Fitches, A. C., Markie, D., & Olds, R. J. (2004, July). The cytoplasmic tail of serotonin receptor 2A interacts with filamin-C and RACK1. Poster session presented at the 4th Forum of European Neuroscience, Lisbon, Portugal.

2003

Conference Contribution - Published proceedings: Abstract

Gough, S. M., Benjes, S., Markie, D. M., Heaton, D., Ganly, P. S., & Morris, C. M. (2003). Molecular analysis of a novel t(5;10) translocation in a case of acute lymphoblastic leukaemia. Proceedings of the Haematology Society of Australia and New Zealand, Australian and New Zealand Society of Blood Transfusion and the Australasian Society of Thrombosis and Haemostasis Annual Scientific Meeting. (pp. 92). Christchurch: HSANZ. [Abstract]

2002

Conference Contribution - Published proceedings: Abstract

Gough, S. M., Markie, D. M., Heaton, D. C., Ganly, P. S., Spearing, R. L., & Morris, C. M. (2002). Dangerous liaison? Molecular analysis of a novel t(5:10) translocation in a case of acute lymphoblastic leukaemia. Proceedings of the American Association for Cancer Research. 43, (pp. 294). San Francisco, CA: American Association for Cancer Research. [Abstract]

2001

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.

2000

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.

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.

1999

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.

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.

1998

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.

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.

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.

1997

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.

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.

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.

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.

1996

Edited Book - Research

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

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.

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.

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

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.

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.

1995

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.

Journal - Research Article

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