Schilter KF - Search Results

1

Evaluating direct amplification from viral transport medium for SARS-CoV-2 detection, strain typing, and angiotensin-converting enzyme genotyping and expression assays.

Schilter KF, Kapoor S, Smith BA, Saleem A, Scott SJ, Batchelor D, Stoll KA, Nie Q, Reddi HV. Schilter KF, et al. Lab Med. 2024 May 2;55(3):267-270. doi: 10.1093/labmed/lmad075. Lab Med. 2024. PMID: 37565752

2

Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeq^TMKids for molecular profiling of childhood malignancies.

Schilter KF, Smith BA, Nie Q, Stoll K, Felix JC, Jarzembowski JA, Reddi HV. Schilter KF, et al. Front Genet. 2023 Feb 9;14:1067457. doi: 10.3389/fgene.2023.1067457. eCollection 2023. Front Genet. 2023. PMID: 36845394 Free PMC article.

3

Diffuse Leptomeningeal Histiocytic Sarcoma: Histologic and Molecular Findings in an Autopsy Case.

Onyenekwu CP, Cunningham AM, Schilter K, Reddi HV, Cochran EJ. Onyenekwu CP, et al. J Neuropathol Exp Neurol. 2022 Jan 21;81(1):79-81. doi: 10.1093/jnen/nlab107. J Neuropathol Exp Neurol. 2022. PMID: 35062029 No abstract available.

4

A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism.

Udani R, Schilter KF, Tyler RC, Smith BA, Wendtandrae JL, Kappes UP, Scharer G, Lehman A, Steinraths M, Reddi HV. Udani R, et al. Among authors: schilter kf. J Genet. 2023;102:14. J Genet. 2023. PMID: 36814108 Free article.

5

Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome.

Jacquart A, Schilter KF, Udani R, Evans D, Carroll TB, Reddi HV. Jacquart A, et al. Among authors: schilter kf. Clin Genet. 2023 Jul;104(1):139-141. doi: 10.1111/cge.14314. Epub 2023 Feb 28. Clin Genet. 2023. PMID: 36840469 No abstract available.

6

Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants.

Schilter KF, Dubay S, Stachowiak M, Kaplan A, Stauffenger A, Reddi HV. Schilter KF, et al. Biomark Insights. 2023 Jun 2;18:11772719231178618. doi: 10.1177/11772719231178618. eCollection 2023. Biomark Insights. 2023. PMID: 37313115 Free PMC article.

7

Long-term retinal imaging of a case of suspected congenital rubella infection.

Langlo CS, Trotter A, Reddi HV, Schilter KF, Tyler RC, Udani R, Neitz M, Carroll J, Connor TB. Langlo CS, et al. Among authors: schilter kf. Am J Ophthalmol Case Rep. 2021 Dec 7;25:101241. doi: 10.1016/j.ajoc.2021.101241. eCollection 2022 Mar. Am J Ophthalmol Case Rep. 2021. PMID: 34977425 Free PMC article.

8

Implementation of an Active Screening Program for SARS-CoV2 - Experience at an Academic Medical Center.

Udani R, Schilter KF, Hillmer RE, Petersen RA, Srinivasan S, Marchant JS, Nattinger A, Reddi HV. Udani R, et al. Among authors: schilter kf. WMJ. 2022 Oct;121(3):235-238. WMJ. 2022. PMID: 36301652 Free article.

9

Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype.

Schilter KF, Reis LM, Sorokina EA, Semina EV. Schilter KF, et al. Mol Genet Genomic Med. 2015 Jun 2;3(6):490-9. doi: 10.1002/mgg3.159. eCollection 2015 Nov. Mol Genet Genomic Med. 2015. PMID: 26740941 Free PMC article.

10

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.

Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. Reis LM, et al. Among authors: schilter kf. Hum Genet. 2011 Oct;130(4):495-504. doi: 10.1007/s00439-011-0968-y. Epub 2011 Feb 22. Hum Genet. 2011. PMID: 21340693 Free PMC article.

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