Edinburgh Research Explorer

Dr David Parry

Research Fellow - Molecular Genetics

  1. 2019
  2. Biallelic variants in DNA2 cause microcephalic primordial dwarfism

    Tarnauskaitė, Ž., Bicknell, L. S., Marsh, J. A., Murray, J. E., Parry, D. A., Logan, C. V., Bober, M. B., Silva, D. C., Duker, A. L., Sillence, D., Wise, C., Jackson, A. P., Murina, O. & Reijns, M. A. M., 2 May 2019, In : Human Mutation.

    Research output: Contribution to journalArticle

  3. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

    University of Washington Center for Mendelian Genomics, 7 Mar 2019, In : American Journal of Human Genetics.

    Research output: Contribution to journalArticle

  4. Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of polycomb-regulated regions

    Heyn, P., Logan, C., Fluteau, A., Challis, R., Auchynnikava, T., Martin, C-A., Marsh, J. A., Taglini, F., Kilanowski, F., Parry, D., Cormier-Daire, V., Fong, C-T., Gibson, K., Hwa, V., Ibanez, L., Robertson, S. P., Sebastiani, G., Rappsilber, J., Allshire, R., Reijns, M. A. M. & 3 others, Dauber, A., Sproul, D. & Jackson, A. P., 5 Jan 2019, In : Nature Genetics.

    Research output: Contribution to journalArticle

  5. 2018
  6. DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency

    Logan, C., Murray, J., Parry, D., Robertson, A., Bellelli, R., Tarnauskaite, Z., Challis, R., Cleal, L., Borel, V., Fluteau, A., Santoyo-Lopez, J., SGP Consortium, Aitman, T., Barroso, I., Basel, D., Bicknell, L., Goel, H., Hu, H., Huff, C., Hutchison, M. & 25 others, Joyce, C., Knox, R., Langlois, S., McCandless, S., McCarrier, J., Morrissey, R., Murphy, N., Netchine, I., O'Connell, S. M., Olney, A. H., Paria, N., Rosenfeld, J. A., Sherlock, M., Syverson, E., White, P., Wise, C., Yu, Y., Zacharin, M., Banerjee, I., Reijns, M., Bober, M. B., Semple, R., Boulton, S. J., Rios, J. J. & Jackson, A., 6 Dec 2018, In : American Journal of Human Genetics. 103, 6, p. 1038-1044

    Research output: Contribution to journalArticle

  7. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

    Undiagnosed Diseases Network, 4 Oct 2018, In : American Journal of Human Genetics. 103, 4, p. 553-567 15 p.

    Research output: Contribution to journalArticle

  8. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

    GOSgene, Martin, C-A., Sarlós, K., Logan, C. V., Thakur, R. S., Parry, D. A., Bizard, A. H., Leitch, A., Cleal, L., Ali, N. S., Al-Owain, M. A., Allen, W., Altmüller, J., Aza-Carmona, M., Barakat, B. A. Y., Barraza-García, J., Begtrup, A., Bogliolo, M., Cho, M. T., Cruz-Rojo, J. & 31 others, Dhahrabi, H. A. M., Elcioglu, N. H., Gorman, G. S., Jobling, R., Kesterton, I., Kishita, Y., Kohda, M., Le Quesne Stabej, P., Malallah, A. J., Nürnberg, P., Ohtake, A., Okazaki, Y., Pujol, R., Ramirez, M. J., Revah-Politi, A., Shimura, M., Stevens, P., Taylor, R. W., Turner, L., Williams, H., Wilson, C., Yigit, G., Zahavich, L., Alkuraya, F. S., Surralles, J., Iglesais, A., Murayama, K., Wollnik, B., Dattani, M., Heath, K. E. & Jackson, A. P., 2 Aug 2018, In : American Journal of Human Genetics.

    Research output: Contribution to journalArticle

  9. Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation

    Bigley, V., Maisuria, S., Cytlak, U., Jardine, L., Care, M. A., Green, K., Gunawan, M., Milne, P., Dickinson, R., Wiscombe, S., Parry, D., Doffinger, R., Laurence, A., Fonseca, C., Stoevesandt, O., Gennery, A., Cant, A., Tooze, R., Simpson, A. J., Hambleton, S. & 3 others, Savic, S., Doody, G. & Collin, M., Jun 2018, In : Journal of Allergy and Clinical Immunology. 141, 6, p. 2234-2248 15 p.

    Research output: Contribution to journalArticle

  10. Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta

    Weerakkody, R., Ross, D., Parry, D. A., Ziganshin, B., Vandrovcova, J., Gampawar, P., Abdullah, A., Biggs, J., Dumfarth, J., Ibrahim, Y., Bicknell, C., Field, M., Elefteriades, J., Cheshire, N. & Aitman, T. J., 15 Mar 2018, In : Genetics in Medicine.

    Research output: Contribution to journalArticle

  11. 2017
  12. Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency associated with autoinflammatory complications

    Mistry, A., Scambler, T., Parry, D., Wood, M., Barcenas-Morales, G., Carter, C., Doffinger, R. & Savic, S., 6 Nov 2017, In : Frontiers in Immunology. 8, NOV, 1485.

    Research output: Contribution to journalArticle

  13. Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy

    Lawless, D., Mistry, A., Wood, P. M., Stahlschmidt, J., Arumugakani, G., Hull, M., Parry, D., Anwar, R., Carter, C. & Savic, S., 1 Oct 2017, In : Journal of Clinical Immunology. 37, 7, p. 617-622 6 p.

    Research output: Contribution to journalLetter

Previous 1 2 3 4 5 Next