Jacob D Durtschi
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Explore the profile of Jacob D Durtschi including associated specialties, affiliations and a list of published articles.
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22
Citations
780
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Recent Articles
1.
Buchbinder D, Baker R, Lee Y, Ravell J, Zhang Y, McElwee J, et al.
J Clin Immunol
. 2014 Dec;
35(2):119-24.
PMID: 25516070
Purpose: Combined immunodeficiency (CID) presents a unique challenge to clinicians. Two patients presented with the prior clinical diagnosis of common variable immunodeficiency (CVID) disorder marked by an early age of...
2.
Coonrod E, Durtschi J, VanSant Webb C, Voelkerding K, Kumanovics A
Biotechniques
. 2014 Oct;
57(4):204-7.
PMID: 25312090
Next-generation sequencing (NGS) of multigene panels performed for genetic clinical diagnostics requires 100% coverage of all targeted genes. In the genetic diagnostics laboratory, coverage gaps are typically filled with Sanger...
3.
Hu H, Roach J, Coon H, Guthery S, Voelkerding K, Margraf R, et al.
Nat Biotechnol
. 2014 May;
32(7):663-9.
PMID: 24837662
High-throughput sequencing of related individuals has become an important tool for studying human disease. However, owing to technical complexity and lack of available tools, most pedigree-based sequencing studies rely on...
4.
Chen K, Coonrod E, Kumanovics A, Franks Z, Durtschi J, Margraf R, et al.
Am J Hum Genet
. 2013 Oct;
93(5):812-24.
PMID: 24140114
Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by antibody deficiency, poor humoral response to antigens, and recurrent infections. To investigate the molecular cause of CVID, we carried out...
5.
Margraf R, Coonrod E, Durtschi J, Augustine N, Voelkerding K, Hill H, et al.
Clin Immunol
. 2012 Nov;
146(1):10-2.
PMID: 23165285
No abstract available.
6.
Wooderchak-Donahue W, OFallon B, Furtado L, Durtschi J, Plant P, Ridge P, et al.
BMC Med Genomics
. 2012 Nov;
5:50.
PMID: 23148498
Background: Aortopathies are a group of disorders characterized by aneurysms, dilation, and tortuosity of the aorta. Because of the phenotypic overlap and genetic heterogeneity of diseases featuring aortopathy, molecular testing...
7.
Coonrod E, Durtschi J, Margraf R, Voelkerding K
Arch Pathol Lab Med
. 2012 Jul;
137(3):415-33.
PMID: 22770468
Context: Advances in sequencing technology with the commercialization of next-generation sequencing (NGS) has substantially increased the feasibility of sequencing human genomes and exomes. Next-generation sequencing has been successfully applied to...
8.
Simmon K, Brown-Elliott B, Ridge P, Durtschi J, Mann L, Slechta E, et al.
Emerg Infect Dis
. 2011 Sep;
17(9):1692-700.
PMID: 21888796
Members of the Mycobacterium chelonae-abscessus complex represent Mycobacterium species that cause invasive infections in immunocompetent and immunocompromised hosts. We report the detection of a new pathogen that had been misidentified...
9.
Margraf R, Durtschi J, Dames S, Pattison D, Stephens J, Voelkerding K
J Biomol Tech
. 2011 Jul;
22(2):74-84.
PMID: 21738440
Multi-sample pooling and Illumina Genome Analyzer (GA) sequencing allows high throughput sequencing of multiple samples to determine population sequence variation. A preliminary experiment, using the RET proto-oncogene as a model,...
10.
Margraf R, Durtschi J, Dames S, Pattison D, Stephens J, Mao R, et al.
J Biomol Tech
. 2010 Sep;
21(3):126-40.
PMID: 20808642
Determination of sequence variation within a genetic locus to develop clinically relevant databases is critical for molecular assay design and clinical test interpretation, so multisample pooling for Illumina genome analyzer...