Matthew Schomaker
Overview
Explore the profile of Matthew Schomaker including associated specialties, affiliations and a list of published articles.
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Articles
9
Citations
113
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0
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Recent Articles
1.
Brown C, Bower M, Schomaker M, Goldstein J, Jarnes J, Whitley C, et al.
Am J Med Genet A
. 2025 Mar;
:e64012.
PMID: 40026274
An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14-year-old male with Niemann-Pick Type C disease confirmed biochemically...
2.
Johnson A, Zhou S, Hoops S, Hillmann B, Schomaker M, Kincaid R, et al.
Microbiol Spectr
. 2021 Jul;
9(1):e0008621.
PMID: 34259552
Although nasopharyngeal samples have been considered the gold standard for COVID-19 testing, variability in viral load across different anatomical sites could cause nasopharyngeal samples to be less sensitive than saliva...
3.
Martinez R, Pankratz N, Schomaker M, Daniel J, Beckman K, Karger A, et al.
J Mol Diagn
. 2021 Jun;
23(9):1085-1096.
PMID: 34116245
Widespread high-throughput testing for identification of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection by RT-PCR has been a foundation in the response to the coronavirus disease 2019 (COVID-19) pandemic....
4.
Hartman P, Beckman K, Silverstein K, Yohe S, Schomaker M, Henzler C, et al.
Mol Genet Metab Rep
. 2019 Mar;
19:100464.
PMID: 30891420
Clinical laboratories have adopted next generation sequencing (NGS) as a gold standard for the diagnosis of hereditary disorders because of its analytic accuracy, high throughput, and potential for cost-effectiveness. We...
5.
Bushara O, Miller D, Giubellino A, Schomaker M, Thyagarajan B, Nelson A
J Cutan Pathol
. 2019 Feb;
46(6):436-441.
PMID: 30773702
Epidermodysplasia verruciformis (EV) is a rare skin disease characterized by the development of multiple flat warts with the potential for malignant transformation. Patients are susceptible to human papillomavirus (HPV) infection...
6.
Henzler C, Schomaker M, Yang R, Lambert A, LaRue R, Kincaid R, et al.
Ann Transl Med
. 2018 Jun;
6(9):162.
PMID: 29911110
Background: Massively parallel, or next-generation, sequencing is a powerful technique for the assessment of somatic genomic alterations in cancer samples. Numerous gene targets can be interrogated simultaneously with a high...
7.
Lou E, Schomaker M, Wilson J, Ahrens M, Dolan M, Nelson A
Cancer Biol Ther
. 2016 Sep;
17(10):1010-1016.
PMID: 27682250
Medulloblastoma is an aggressive primitive neuroectodermal tumor of the cerebellum that is rare in adults. Medulloblastomas fall into 4 prognostically significant molecular subgroups that are best defined by experimental gene...
8.
Onsongo G, Baughn L, Bower M, Henzler C, Schomaker M, Silverstein K, et al.
J Mol Diagn
. 2016 Sep;
18(6):872-881.
PMID: 27597741
Simultaneous detection of small copy number variations (CNVs) (<0.5 kb) and single-nucleotide variants in clinically significant genes is of great interest for clinical laboratories. The analytical variability in next-generation sequencing...
9.
Yohe S, Hauge A, Bunjer K, Kemmer T, Bower M, Schomaker M, et al.
Arch Pathol Lab Med
. 2015 Jan;
139(2):204-10.
PMID: 25611102
Context: Although next-generation sequencing (NGS) can revolutionize molecular diagnostics, several hurdles remain in the implementation of this technology in clinical laboratories. Objectives: To validate and implement an NGS panel for...
10.
Onsongo G, Erdmann J, Spears M, Chilton J, Beckman K, Hauge A, et al.
BMC Res Notes
. 2014 Jun;
7:314.
PMID: 24885806
Background: The introduction of next generation sequencing (NGS) has revolutionized molecular diagnostics, though several challenges remain limiting the widespread adoption of NGS testing into clinical practice. One such difficulty includes...