Oetjens MT - Search Results

1

Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses.

Wain KE, Tolwinski K, Palen E, Heidlebaugh AR, Holdren K, Walsh LK, Oetjens MT, Ledbetter DH, Martin CL. Wain KE, et al. Among authors: oetjens mt. J Pers Med. 2021 May 1;11(5):365. doi: 10.3390/jpm11050365. J Pers Med. 2021. PMID: 34062946 Free PMC article.

2

Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population.

Martin CL, Wain KE, Oetjens MT, Tolwinski K, Palen E, Hare-Harris A, Habegger L, Maxwell EK, Reid JG, Walsh LK, Myers SM, Ledbetter DH. Martin CL, et al. Among authors: oetjens mt. JAMA Psychiatry. 2020 Dec 1;77(12):1276-1285. doi: 10.1001/jamapsychiatry.2020.2159. JAMA Psychiatry. 2020. PMID: 32697297 Free PMC article.

3

Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.

Kelly MA, Leader JB, Wain KE, Bodian D, Oetjens MT, Ledbetter DH, Martin CL, Strande NT. Kelly MA, et al. Among authors: oetjens mt. Am J Med Genet C Semin Med Genet. 2021 Mar;187(1):83-94. doi: 10.1002/ajmg.c.31887. Epub 2021 Feb 11. Am J Med Genet C Semin Med Genet. 2021. PMID: 33576083

4

Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.

Finucane B, Oetjens MT, Johns A, Myers SM, Fisher C, Habegger L, Maxwell EK, Reid JG, Ledbetter DH, Kirchner HL, Martin CL. Finucane B, et al. Among authors: oetjens mt. Genet Med. 2022 Mar;24(3):703-711. doi: 10.1016/j.gim.2021.11.010. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906480 Free PMC article.

5

Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.

Savatt JM, Shimelis H, Moreno-De-Luca A, Strande NT, Oetjens MT, Ledbetter DH, Martin CL, Myers SM, Finucane BM. Savatt JM, et al. Among authors: oetjens mt. Genet Med. 2022 Sep;24(9):1857-1866. doi: 10.1016/j.gim.2022.05.006. Epub 2022 May 31. Genet Med. 2022. PMID: 35639097 Free PMC article.

6

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.

Moreno-De-Luca A, Millan F, Pesacreta DR, Elloumi HZ, Oetjens MT, Teigen C, Wain KE, Scuffins J, Myers SM, Torene RI, Gainullin VG, Arvai K, Kirchner HL, Ledbetter DH, Retterer K, Martin CL. Moreno-De-Luca A, et al. Among authors: oetjens mt. JAMA. 2021 Feb 2;325(5):467-475. doi: 10.1001/jama.2020.26148. JAMA. 2021. PMID: 33528536 Free PMC article.

7

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Oetjens MT, Kelly MA, Sturm AC, Martin CL, Ledbetter DH. Oetjens MT, et al. Nat Commun. 2019 Oct 25;10(1):4897. doi: 10.1038/s41467-019-12869-0. Nat Commun. 2019. PMID: 31653860 Free PMC article.

8

Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients.

Oetjens MT, Luo JZ, Chang A, Leader JB, Hartzel DN, Moore BS, Strande NT, Kirchner HL, Ledbetter DH, Justice AE, Carey DJ, Mirshahi T. Oetjens MT, et al. PLoS One. 2020 Nov 12;15(11):e0242182. doi: 10.1371/journal.pone.0242182. eCollection 2020. PLoS One. 2020. PMID: 33180868 Free PMC article.

9

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.

Praveen K, Dobbyn L, Gurski L, Ayer AH, Staples J, Mishra S, Bai Y, Kaufman A, Moscati A, Benner C, Chen E, Chen S, Popov A, Smith J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Decibel-REGN collaboration; Melander O, Jones MB, Marchini J, Balasubramanian S, Zambrowicz B, Drummond MC, Baras A, Abecasis GR, Ferreira MA, Stahl EA, Coppola G. Praveen K, et al. Commun Biol. 2022 Jun 3;5(1):540. doi: 10.1038/s42003-022-03408-7. Commun Biol. 2022. PMID: 35661827 Free PMC article.

10

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.

Deaton AM, Parker MM, Ward LD, Flynn-Carroll AO, BonDurant L, Hinkle G, Akbari P, Lotta LA; Regeneron Genetics Center; DiscovEHR Collaboration; Baras A, Nioi P. Deaton AM, et al. Sci Rep. 2021 Nov 3;11(1):21565. doi: 10.1038/s41598-021-99091-5. Sci Rep. 2021. PMID: 34732801 Free PMC article.

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