E-LIB Suche - Ergebnisse für: Durtschi, Jacob

1

Algorithmic improvements for discovery of germline copy num..:

O'Fallon, Brendan ; Durtschi, Jacob ; Kellogg, Ana...
BMC Bioinformatics. 23 (2022) 1 - p. , 2022

2

Morphologic Characteristics and Mutational Analysis of Fuma..:

McMurtry, Valarie ; Mahlow, Jonathan ; Coleman, Joshua F...
American Journal of Clinical Pathology. 159 (2022) 2 - p. 164-171 , 2022

Link: https://doi.org/10.1093/..

3

CXXC5 variant in an immunodeficient patient with a progress..:

Joshi, Hemant R. ; Hill, Harry R. ; Asch, Julie...
Journal of Allergy and Clinical Immunology. 147 (2021) 4 - p. 1504-1507.e8 , 2021

Link: https://doi.org/10.1016/..

4

NovelPLP1Mutations Identified With Next-Generation Sequenci..:

Margraf, Rebecca L. ; Durtschi, Jacob ; Krock, Bryan...
Child Neurology Open. 5 (2018) - p. 2329048X1878928 , 2018

Link: https://doi.org/10.1177/..

5

A unified test of linkage analysis and rare-variant associa..:

Hu, Hao ; Roach, Jared C ; Coon, Hilary...
Nature Biotechnology. 32 (2014) 7 - p. 663-669 , 2014

Link: https://doi.org/10.1038/..

6

Phevor Combines Multiple Biomedical Ontologies for Accurate..:

Singleton, Marc V. ; Guthery, Stephen L. ; Voelkerding, Karl V....
The American Journal of Human Genetics. 94 (2014) 4 - p. 599-610 , 2014

Link: https://doi.org/10.1016/..

7

Next-generation Sequencing of Custom Amplicons to Improve C..:

Coonrod, Emily M. ; Durtschi, Jacob D. ; Webb, Chad VanSant..
BioTechniques. 57 (2014) 4 - p. 204-207 , 2014

Link: https://doi.org/10.2144/..

8

Identification of Patients with RAG Mutations Previously Di..:

Buchbinder, David ; Baker, Rebecca ; Lee, Yu Nee...
Journal of Clinical Immunology. 35 (2014) 2 - p. 119-124 , 2014

Link: https://doi.org/10.1007/..

9

A novel germline PIGA mutation in Ferro‐Cerebro‐Cutaneous s..:

Swoboda, Kathryn J. ; Margraf, Rebecca L. ; Carey, John C....
American Journal of Medical Genetics Part A. 164 (2013) 1 - p. 17-28 , 2013

Link: https://doi.org/10.1002/..

10

TACI mutation p.Lys154Ter identified in Good Syndrome:

Margraf, Rebecca L. ; Coonrod, Emily M. ; Durtschi, Jacob D....
Clinical Immunology. 146 (2013) 1 - p. 10-12 , 2013

Link: https://doi.org/10.1016/..

11

VarBin, a novel method for classifying true and false posit..:

Durtschi, Jacob ; Margraf, Rebecca L ; Coonrod, Emily M..
BMC Bioinformatics. 14 (2013) S13 - p. , 2013

Link: https://doi.org/10.1186/..

12

A direct comparison of next generation sequencing enrichmen..:

Wooderchak-Donahue, Whitney L ; O'Fallon, Brendan ; Furtado, Larissa V...
BMC Medical Genomics. 5 (2012) 1 - p. , 2012

Link: https://doi.org/10.1186/..

13

Next-Generation Sequencing: From Basic Research to Diagnost..:

Durtschi, Jacob D ; Dames, Shale A ; Voelkerding, Karl V
Clinical Chemistry. 55 (2009) 4 - p. 641-658 , 2009

Link: https://doi.org/10.1373/..

14

Quadruplex Genotyping of F5, F2, and MTHFR Variants in a Si..:

Wittwer, Carl T ; Voelkerding, Karl V ; Jama, Mohamed...
Clinical Chemistry. 54 (2008) 1 - p. 108-115 , 2008

Link: https://doi.org/10.1373/..

15

Instrument Comparison for Heterozygote Scanning of Single a..:

Voelkerding, Karl V ; Wittwer, Carl T ; Bromley, L Kathryn..
Clinical Chemistry. 53 (2007) 1 - p. 150-152 , 2007

Link: https://doi.org/10.1373/..