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Number of items: 34.

Waite, Adrian J., Millar, David and Clarke, Angus 2020. The generation of an induced pluripotent stem cell line (DCGi001-A) from an individual with FOXG1 syndrome carrying the c.460dupG (p.Glu154fs) variation in the FOXG1 gene. Stem Cell Research 49 , 102018. 10.1016/j.scr.2020.102018

Stenson, Peter D., Mort, Matthew, Ball, Edward V., Chapman, Molly, Evans, Katy, Azevedo, Luisa, Hayden, Matthew, Heywood, Sally, Millar, David S., Phillips, Andrew D. and Cooper, David N. 2020. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Human Genetics 139 , pp. 1197-1207. 10.1007/s00439-020-02199-3

La Montanara, Paolo, Hervera, Arnau, Baltussen, Lucas L., Hutson, Thomas H., Palmisano, Ilaria, De Virgiliis, Francesco, Kong, Guiping, Chadwick, Jessica, Gao, Yunan, Bartus, Katalin, Majid, Qasim A., Gorgoraptis, Nikos, Wong, Kingsley, Downs, Jenny, Pizzorusso, Tommaso, Ultanir, Sila K., Leonard, Helen, Yu, Hongwei, Millar, David S., Istvan, Nagy, Mazarakis, Nicholas D. and Di Giovanni, Simone 2020. Cyclin-dependent-like kinase 5 is required for pain signaling in human sensory neurons and mouse models. Science Translational Medicine 12 (551) , eaax4846. 10.1126/scitranslmed.aax4846

Mantovani, Roberto, Towers, Rachel E., Murgiano, Leonardo, Millar, David S., Glen, Elise, Topf, Ana, Jagannathan, Vidhya, Drögemüller, Cord, Goodship, Judith A., Clarke, Angus J. and Leeb, Tosso 2013. A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti. PLoS ONE 8 (12) , e81625. 10.1371/journal.pone.0081625

Millar, David Stuart, Horan, Martin Patrick, Chuzhanova, Nadia A. and Cooper, David Neil 2010. Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene. Human Genomics 4 (5) , pp. 289-301.

Millar, David Stuart, Tysoe, Carolyn, Lazarou, Lazarus P., Pilz, T., Mohammed, Shehla, Anderson, Katharine, Chuzhanova, Nadia, Cooper, David Neil and Butler, Rachel 2010. An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5′ untranslated region of the PAFAH1B1 (LIS1) gene. Human Genomics 4 (6) , pp. 384-393.

Arning, Larissa, Holle, Julia Ulrike, Harper, Lorraine, Millar, David S., Gross, Wolfgang Ludwig, Epplen, Jorg Thomas and Wieczorek, Stefan 2010. Are there specific genetic risk factors for the different forms of ANCA-associated vasculitis? [Letter]. Annals of the Rheumatic Diseases 70 (4) , pp. 707-708. 10.1136/ard.2010.130971

Wolf, Andreas, Millar, David Stuart, Caliebe, Amke, Horan, Martin Patrick, Newsway, Victoria Elizabeth, Kumpf, Dorothea, Steinmann, Katharina, Chee, Ik-Seung, Lee, Young-Ho, Mutirangura, Apiwat, Pepe, Guglielmina, Rickards, Olga, Schmidtke, Jörg, Schempp, Werner, Chuzhanova, Nadia, Kehrer-Sawatzki, Hildegard, Krawczak, Michael and Cooper, David Neil 2009. A gene conversion hotspot in the human growth hormone (GH1) gene promoter. Human Mutation 30 (2) , pp. 239-247. 10.1002/humu.20850

Millar, David Stuart, Lewis, Mark David, Horan, Martin Patrick, Newsway, Victoria Elizabeth, Rees, Dafydd Aled, Easter, Tammy Elaine, Pepe, Guglielmina, Rickards, Olga, Norin, Martin, Scanlon, Maurice Francis, Krawczak, Michael and Cooper, David Neil 2008. Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population. Molecular and Cellular Endocrinology 296 (1-2) , pp. 18-25. 10.1016/j.mce.2008.09.023

Rosser, Lyndon G., McKee, Shane, Millar, David Stuart, Archer, Hayley, Hughes, James, Butler, Rachel, Chuzhanova, Nadia, Cooper, David Neil and Lazarou, Lazarus P. 2008. Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene. Genomic Medicine 2 (3-4) , pp. 77-81. 10.1007/s11568-008-9026-9

Lewis, Mark D., Horan, Martin Patrick, Millar, David Stuart, Newsway, Vicky, Easter, Tammy Elaine, Fryklund, Linda, Gregory, John Welbourn, Norin, Martin, Del Valle, Cristóbal-Jorge, López-Siguero, Juan Pedro, Cañete, Ramón, López-Canti, Luis Fernando, Díaz-Torrado, Nieves, Espino, Rafael, Ulied, Angels, Scanlon, Maurice Francis, Procter, Annie M. and Cooper, David N. 2004. A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway. Journal of Clinical Endocrinology & Metabolism 89 (3) , pp. 1068-1075. 10.1210/jc.2003-030652

Millar, David Stuart, Lewis, Mark David, Horan, Martin Patrick, Newsway, Victoria Elizabeth, Easter, Tammy Elaine, Gregory, John Welbourn, Fryklund, Linda, Norin, Martin, Crowne, Elizabeth C., Davies, Sally J., Edwards, Phillip, Kirk, Jeremy, Waldron, Kim, Smith, Patricia J., Phillips III, John A., Scanlon, Maurice Francis, Krawczak, Michael, Cooper, David Neil and Procter, Annie M. 2003. Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature. Human Mutation 21 (4) , pp. 424-440. 10.1002/humu.10168

Horan, M., Millar, David Stuart, Hedderich, J., Lewis, G., Newsway, Vicky, Mo, N., Fryklund, L., Procter, A. M., Krawczak, M. and Cooper, David Neil 2003. Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region. Human Mutation 21 (4) , pp. 408-423. 10.1002/humu.10167

Millar, David Stuart, Johansen, B., Berntorp, E., Mindford, A., Bolton-Maggs, P., Wensley, R., Kakkar, V., Schulman, S., Torres, A., Bosch, N. and Cooper, David Neil 2000. Molecular genetic analysis of severe protein C deficiency. Human Genetics 106 (6) , pp. 646-653. 10.1007/s004390050038

Millar, David Stuart, Elliston, L., Deex, P., Krawczak, M., Wacey, A. I., Reynaud, J., Nieuwenhuis, H. K., Bolton-Maggs, P., Mannucci, P. M., Reverter, J. C., Cachia, P., Pasi, K. J., Layton, D. M. and Cooper, David Neil 2000. Molecular analysis of the genotype-phenotype relationship in factor X deficiency. Human Genetics -Berlin- 106 (2) , pp. 249-257. 10.1007/s004390051035

Millar, David Stuart, Krawczak, M. and Cooper, David Neil 1998. Variation of site-specific methylation patterns in the factor VIII (F8C) gene in human sperm DNA. Human Genetics -Berlin- 103 (2) , pp. 228-233. 10.1007/s004390050810

Millar, David Stuart, Allgrove, J., Rodeck, C., Kakkar, V. V. and Cooper, David Neil 1994. A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy. Blood Coagulation and Fibrinolysis 5 (4) , pp. 647-649.

Tuddenham, E. G. D., Schwaab, R., Seehafer, J., Millar, David Stuart, Gitschier, J., Higuchi, M., Bidichandani, S., Connor, J. M., Hoyer, L. W., Yoshioka, A., Peake, I. R., Olek, K., Kazazian, H. H., Lavergne, J. -M., Ginnaelli, F., Antonarakis, S. E. and Cooper, David Neil 1994. Haemophilia A: database of nucleotide substitutions, deletions, insertionsand rearrangements of the factory VIII gene, second edition. Nucleic Acids Research 22 (22) , pp. 4851-4868. 10.1093/nar/22.22.4850

Millar, David Stuart, Kakkar, V. V. and Cooper, David Neil 1994. Screening for inversions in the factor VIII (F8) gene causing severe haemophilia A. Blood Coagulation and Fibrinolysis 5 (2) , pp. 239-242. 10.1097/00001721-199404000-00013

Girolami, A., Simioni, P., Girolami, B., Marchiori, A., Millar, David Stuart, Bignell, P., Kakkar, V. V. and Cooper, David Neil 1993. A novel dysfunctional protein C (Protein C Padua 2) associated with a thrombotic tendency: substitution of Cys for Arg-1 results in a strongly reduced affinity for binding of Ca++. British Journal of Haematology 85 (3) , pp. 521-527. 10.1111/j.1365-2141.1993.tb03342.x

Millar, David Stuart, Wacey, A. I., Voke, J., Kakkar, V. V. and Cooper, David Neil 1993. A novel point mutation (Val 297->Met) in the serine proteinase domain of protein C in a patient with both venous and arterial thromboembolic disease. Blood Coagulation and Fibrinolysis 4 (4) , pp. 631-634. 10.1097/00001721-199308000-00015

Millar, David Stuart, Grundy, C. B., Bignell, P., Moffat, E. H., Martin, R., Kakkar, V. V. and Cooper, David Neil 1993. A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis. Blood Coagulation and Fibrinolysis 4 (2) , pp. 345-347. 10.1097/00001721-199304000-00014

Millar, David Stuart, Grundy, C. B., Bignell, P., Mitchell, D. C., Corden, D., Woods, P., Kakkar, V. V. and Cooper, David Neil 1993. A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->Term) causing recurrent venous thrombosis. Human Genetics 91 (2) , p. 196. 10.1007/BF00222726

Millar, David Stuart, Lopez, A., White, D., Abraham, G., Laursen, B., Holding, S., Reverter, J. C., Reynaud, J., Martinowitz, U., Hayes, J. P. L. A., Kakkar, V. V. and Cooper, David Neil 1993. Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis. Human Mutation 2 (4) , pp. 324-326. 10.1002/humu.1380020416

Jasani, Bharat, Thomas, N. D., Navabi, H., Millar, David M., Newman, G. R., Gee, Julia Margaret Wendy and Williams, E. D. 1992. Dinitrophenyl (DNP) hapten sandwich staining (DHSS) procedure: A 10 year review of its principle reagents and applications. Journal of Immunological Methods 150 (1-2) , pp. 193-198. 10.1016/0022-1759(92)90078-8

Berg, Lutz-Peter, Grundy, Catherine B., Thomas, Frank, Millar, David Stuart, Green, Peter J., Slomski, Ryszard, Reiss, Jochen, Kakkar, Vijay V. and Cooper, David Neil 1992. De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Genomics 13 (4) , pp. 1359-1361. 10.1016/0888-7543(92)90070-9

Grundy, Catherine B., Holding, Steven, Millar, David Stuart, Kakkar, Vijay V. and Cooper, David Neil 1992. A novel missense mutation in the antithrombin III gene (Ser349-->Pro) causing recurrent venous thrombosis. Human Genetics -Berlin- 88 (6) , pp. 707-708. 10.1007/BF02265306

Millar, David Stuart, Cooper, David Neil, Kakkar, VijayV., Schwartz, Marianne and Scheibel, Elma 1992. Prenatal exclusion of severe factor VII deficiency by DNA sequencing. The Lancet 339 (8805) , p. 1359. 10.1016/0140-6736(92)92005-Z

Grundy, C. B., Thomas, F., Millar, David Stuart, Krawczak, M., Melissari, E., Lindo, V., Moffat, E., Kakkar, V. V. and Cooper, David Neil 1991. Recurrent deletion in the human antithrombin III gene. Blood 78 (4) , pp. 1027-1032.

Millar, David Stuart, Green, P. J., Zoll, B., Kakkar, V. V. and Cooper, David Neil 1991. Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions. Human Genetics 87 (1) , pp. 99-100.

Millar, David Stuart, Zoll, Barbara, Martinowitz, Uri, Kakkar, Vijay V. and Cooper, David Neil 1991. The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI. Human Genetics -Berlin- 87 (5) , pp. 607-612. 10.1007/BF00209022

Wieland, Kerstin, Millar, David Stuart, Grundy, Catherine B., Mibashan, Reuben S., Kakkar, Vijay V. and Cooper, David Neil 1991. Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism. Human Genetics 86 (3) , pp. 273-278. 10.1007/BF00202408

Jedlicka, P., Greer, S., Millar, David Stuart, Grundy, C. B., Jenkins, E., Mitchell, M., Mibashan, R. S., Kakkar, V. V. and Cooper, David Neil 1990. Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus. Human Genetics 85 (3) , pp. 315-318.

Pattinson, J. K., Millar, David Stuart, McVey, J. H., Grundy, C. B., Wieland, K., Mibashan, R., Martinowitz, U., Tan-Un, K., Vidaud, M., Goossens, M., Sampietro, M., Mannucci, P. M., Krawczak, M., Reiss, J., Zoll, B., Whitmore, D., Bowcock, S., Wensley, R., Ajani, A., Mitchell, V., Rizza, C., Maia, R., Winter, P., Mayne, E. E., Schwartz, M., Green, P. J., Kakkar, V. V., Tuddenham, E. G. D. and Cooper, David Neil 1990. The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene. Blood 76 (11) , pp. 2242-2248.

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