Angela Duker, MS, CGC

Villegas, M. A., Okenfuss, E., Savarirayan, R., White, K., Hoover-Fong, J., Bober, M. B., & Legare, J. M. (2022). Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes. Neurosurgery Clinics of North America, 33(1), 7-15. doi:10.1016/j.nec.2021.09.002

Duker, A. L., Kinderman, D., Jordan, C., Niiler, T., Baker-Smith, C. M., Thompson, L., & Bober, M. B. (2021). Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease. Orphanet Journal of Rare Diseases, 16(1). doi:10.1186/s13023-021-01852-y

Duker, A. L., Niiler, T., Kinderman, D., Schouten, M., Poll-The, B. T., Braverman, N., & Bober, M. B. (2020). Rhizomelic chondrodysplasia punctata morbidity and mortality, an update. American Journal of Medical Genetics, Part A, 182(3), 579-583. doi:10.1002/ajmg.a.61413

Ferreira, C. R., Zein, W. M., Huryn, L. A., Merker, A., Berger, S. I., Wilson, W. G., & Bober, M. B. (2020). Defining the clinical phenotype of Saul-Wilson syndrome. Genetics in Medicine, 22(5), 857-866. doi:10.1038/s41436-019-0737-1

Ferreira, C. R., Niiler, T., Duker, A. L., Jackson, A. P., & Bober, M. B. (2020). Growth in individuals with Saul-Wilson syndrome. American Journal of Medical Genetics, Part A, 182(9), 2110-2116. doi:10.1002/ajmg.a.61754

Abousamra, O., Kandula, V., Duker, A. L., Rogers, K. J., Bober, M. B., & Mackenzie, W. G. (2019). Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata. Journal of Pediatric Orthopaedics, 39(9), E680-E686. doi:10.1097/BPO.0000000000001014

Jennings, S. E., Ditro, C. P., Bober, M. B., Mackenzie, W. G., Rogers, K. J., Conway, L., & Duker, A. L. (2019). Prevalence of mental health conditions and pain in adults with skeletal dysplasia. Quality of Life Research, 28(6), 1457-1464. doi:10.1007/s11136-019-02102-2

LaCroix, A. J., Stabley, D., Sahraoui, R., Adam, M. P., Mehaffey, M., Kernan, K., & University of Washington Center for Mendelian Genomics. (2019). GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. American Journal of Human Genetics, 104(1), 35-44. doi:10.1016/j.ajhg.2018.11.005

Tarnauskaite, Z., Bicknell, L. S., Marsh, J. A., Murray, J. E., Parry, D. A., Logan, C. V., & Reijns, M. A. M. (2019). Biallelic variants in DNA2 cause microcephalic primordial dwarfism. Human Mutation, 40(8), 1063-1070. doi:10.1002/humu.23776

Ferreira, C. R., Xia, Z.-J., Clement, A., Parry, D. A., Davids, M., Taylan, F., & Scottish Genome Partnership. (2018). A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. American Journal of Human Genetics, 103(4), 553-567. doi:10.1016/j.ajhg.2018.09.003

Farach, L. S., Little, M. E., Duker, A. L., Logan, C. V., Jackson, A., Hecht, J. T., & Bober, M. (2018). The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. American Journal of Medical Genetics, Part A, 176(2), 465-469. doi:10.1002/ajmg.a.38581

Reynolds, J. J., Bicknell, L. S., Carroll, P., Higgs, M. R., Shaheen, R., Murray, J. E., & Stewart, G. S. (2017). Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nature Genetics, 49(4), 537-549. doi:10.1038/ng.3790

Duker, A. L., Niiler, T., Eldridge, G., Brereton, N. H., Braverman, N. E., & Bober, M. B. (2017). Growth charts for individuals with rhizomelic chondrodysplasia punctata. American Journal of Medical Genetics, Part A, 173(1), 108-113. doi:10.1002/ajmg.a.37961

Pode-Shakked, B., Barash, H., Ziv, L., Gripp, K. W., Flex, E., Barel, O., & Raas-Rothschild, A. (2017). Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy. Clinical Genetics, 91(5), 725-738. doi:10.1111/cge.12914

Duker, A. L., Niiler, T., & Bober, M. B. (2017). Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. American Journal of Medical Genetics, Part A, 173(11), 3067-3069. doi:10.1002/ajmg.a.38467

Hurd, L. M., Thacker, M. M., Okenfuss, E., Duker, A. L., Lou, Y., Harty, M. P., & Bober, M. B. (2017). Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients. American Journal of Medical Genetics, Part A, 173(12), 3205-3210. doi:10.1002/ajmg.a.38498

Martin, C.-A., Murray, J. E., Carroll, P., Leitch, A., Mackenzie, K. J., Halachev, M., & The Deciphering Developmental Disorders Study. (2016). Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes and Development, 30(19), 2158-2172. doi:10.1101/gad.286351.116

Bober, M. B., Duker, A. L., Carney, M., Ditro, C. P., Rogers, K., & Mackenzie, W. G. (2016). Metatropic dysplasia is associated with increased fracture risk. American Journal of Medical Genetics, Part A, 170(5), 1373-1376. doi:10.1002/ajmg.a.37576

Duker, A. L., Eldridge, G., Braverman, N. E., & Bober, M. B. (2016). Congenital heart defects common in rhizomelic chondrodysplasia punctata. American Journal of Medical Genetics, Part A, 170(1), 270-272. doi:10.1002/ajmg.a.37404

Olney, R. C., Prickett, T. C. R., Espiner, E. A., Mackenzie, W. G., Duker, A. L., Ditro, C., & Bober, M. B. (2015). C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. Journal of Clinical Endocrinology and Metabolism, 100(2), E355-E359. doi:10.1210/jc.2014-2814