Angela Duker, MS,CGC
GeneticsInsurance Accepted
- Aetna HMO
- Aetna PPO/POS/EPO
- Cigna/Great West HMO EPO POS
- Cigna/Great West PPO
- Fidelis Care NJ Medicaid HMO
- First Health/Affordable PPO
- Global Medical Managment DE/PA
- Insurance Administrators of America
- INTEGRA Administrative Group (ClaimsBridge)
- Multiplan PPO
- Plan Vista/NPPN PPO
- Preferred Healthcare PPO
- Private Health Care Systems (PHCS)
- Star Healthcare Network
- Three Rivers Provider Network
- Skeletal Dysplasia
Research Activities
Our team is involved in clinical research involving many different types of skeletal dysplasias. My biggest research focus now is on primordial dwarfism. Specifically, we coordinate an international Primordial Dwarfism Research Registry. Through that I have participated in myriad studies with the goal of formulating care plans to help identify and treat any contributing causes of illness or life-threatening situations. It seems like as soon as we figure something out, the door opens for something else to learn about … which is both the blessing and the curse of research! However, it’s one that I enjoy very much, and am happy to be a part of if it means making the lives better of the children and families I work with.
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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- English