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Page 1
NOTCH1 loss of the TAD and PEST domain: An antimorph?
Boerkoel P, Huynh S, Yang GX, Boerkoel CF, Patel MS, Lehman A, Terry J, Elbert A. Boerkoel P, et al. Am J Med Genet A. 2023 Jun;191(6):1593-1598. doi: 10.1002/ajmg.a.63167. Epub 2023 Mar 3. Am J Med Genet A. 2023. PMID: 36866832
The practice of genomic medicine: A delineation of the process and its governing principles.
Handra J, Elbert A, Gazzaz N, Moller-Hansen A, Hyunh S, Lee HK, Boerkoel P, Alderman E, Anderson E, Clarke L, Hamilton S, Hamman R, Hughes S, Ip S, Langlois S, Lee M, Li L, Mackenzie F, Patel MS, Prentice LM, Sangha K, Sato L, Seath K, Seppelt M, Swenerton A, Warnock L, Zambonin JL, Boerkoel CF, Chin HL, Armstrong L. Handra J, et al. Among authors: boerkoel p. Front Med (Lausanne). 2023 Jan 12;9:1071348. doi: 10.3389/fmed.2022.1071348. eCollection 2022. Front Med (Lausanne). 2023. PMID: 36714130 Free PMC article.
Müller cell degeneration and microglial dysfunction in the Alzheimer's retina.
Xu QA, Boerkoel P, Hirsch-Reinshagen V, Mackenzie IR, Hsiung GR, Charm G, To EF, Liu AQ, Schwab K, Jiang K, Sarunic M, Beg MF, Pham W, Cui J, To E, Lee S, Matsubara JA. Xu QA, et al. Among authors: boerkoel p. Acta Neuropathol Commun. 2022 Oct 5;10(1):145. doi: 10.1186/s40478-022-01448-y. Acta Neuropathol Commun. 2022. PMID: 36199154 Free PMC article.
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.
Chin HL, Gazzaz N, Huynh S, Handra I, Warnock L, Moller-Hansen A, Boerkoel P, Jacobsen JOB, du Souich C, Zhang N, Shefchek K, Prentice LM, Washington N, Haendel M, Armstrong L, Clarke L, Li WL, Smedley D, Robinson PN, Boerkoel CF. Chin HL, et al. Among authors: boerkoel p. Genet Med. 2022 Jul;24(7):1512-1522. doi: 10.1016/j.gim.2022.03.013. Epub 2022 Apr 19. Genet Med. 2022. PMID: 35442193 Free PMC article.