Beleford Lab Publications

  1. Chan, AK, Han SJ, Choy W, Beleford, D, Aghi MK, Berger MS, Shieh JT, Bollen AW, Perry A, Phillips JJ, Butowski N, Solomon DA. Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history (2017). Clin Neuropathol. Sep/Oct;36(5):213-221. PMID: 28699883.
  2. Kumar A, Zastrow DB, Kravets EJ, Beleford D, Ruzhnikov MRZ, Grove ME, Dries AM, Kohler JN, Waggott DM, Yang Y, Huang Y; Undiagnosed Diseases Network, Mackenzie KM, Eng CM, Fisher PG, Ashley EA, Teng JM, Stevenson DA, Shieh JT, Wheeler MT, Bernstein JA. Extracutaneous Manifestations in Phacomatosis Cesioflammea and Cesiomarmorata: Case Series and Literature Review (2019) American Journal of Medical Genetics A, Jun;179(6):966-977. PMID: 30920161.
  3. Beleford, DT, Diab, M, Qubty, WF, Malloy, MJ, Long, RK, Shieh, JT. Schimke Immunoosseous Dysplasia and Management Considerations for Vascular Risks (2019). American Journal of Medical Genetics A, Jul;179(7):1246-1252. PMID: 31039288.
  4. Ha, TK, Mardy, AH, Beleford, D, Spanier, A, Wayman, BV, Penon-Portman, M, Wiita, AP, Shieh, JT. Characterization of a Novel X-Linked Copy Number Variation Associated with Overgrowth (2019) American Journal of Medical Genetics C Semin Med Genet, Dec;181(4):644-64. PMID: 31762227.
  5. Mendelsohn*, B, Beleford*, D, Abu-El-Haija, A, Alsaleh, N, Rahbeeni, Z, Martin, PM, Rego, S, Huang, A, Capodanno, G, Shieh, JT, Van Ziffle, J, Risch, N, Alkuraya, F, Slavotinek, A. *Authors contributed equally. (2020) A novel truncating variant in ring finger protein A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. American Journal of Medical Genetics A, Mar;182(3):513-520. PMID: 31880405.
  6. Slavotinek*, A, Misceo*, D, Mathisen, L, Frengen, E, Foremann, M, Hurtig, J, Enyenihi, L, Sterrett, MC, Leung, SW, Schneidman-Duhovny, D, Estrada Veras, J, Duncan, JL,& Beleford, D, Si, Y, Douglas, G, Treidene, HE, van Hoof, A, Fasken, MB, Corbett, AH. *Both authors contributed equally. (2020). Biallelic variants in EXOSC5 cause developmental delays, short stature, cerebellar hypoplasia and motor weakness. Human Molecular Genetics, 2020 Jun 5. PMID: 32504085.
  7. Beleford, DT, Van Ziffle, J, Hodoglugil, U, Slavotinek, A (2020). A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability. European Journal of Medical Genetics Jun 10; 103969. PMID: 32534219.
  8. Shieh*, JT, Penon-Portmann*, M, Wong*, KHY, Levy-Sakin, M, Verghese, M, Slavotinek, A, Gallagher, R, Mendelsohn, B, Tenney, J, Beleford, D, Perry, H, Chow, SK, Sharo, A, Qi, Z, Yu, J, Klein, O, Martin, P, Kwok, PY, Boffelli, D. *Authors contributed equally (2021). Application of Full Genome Analysis to Diagnose Rare Monogenic Disorders. NPJ Genomic Medicine. 2021 Sep 23;6(1):77.
  9. Beleford, DT, Blieden, S. Schwarze, U, Leistritz, D, Byers, P, Shieh, JT, Norton, M. Prenatal   Characterization of a Severe Form of Osteogenesis Imperfecta Caused by a Familial IFITM5 Variant. (2024), In process.


Complete list of published work in My Bibliography