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European Journal of Medical Genetics
|
October 10, 2021
Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results
Huma Q Rana, Diane R Koeller, Alison Schwartz, et al.
Neural Development
|
January 11, 2011
A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype
Noelle D Dwyer, Danielle K Manning, Jennifer L Moran, et al.
Molecular Cell
|
August 27, 2013
NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies
Hyo Jei Claudia Choi, Jia-Ren Lin, Jean-Baptiste Vannier, et al.
The Journal of Molecular Diagnostics : JMD
|
July 1, 2020
Targeted Informatics for Optimal Detection, Characterization, and Quantification of FLT3 Internal Tandem Duplications Across Multiple Next-Generation Sequencing Platforms
Harrison K Tsai, Diane G Brackett, David Szeto, et al.
Frontiers in Oncology
|
September 12, 2022
An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes
Alison Schwartz, Danielle K Manning, Diane R Koeller, et al.
Genome Research
|
February 8, 2006
Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse
Jennifer L Moran, Andrew D Bolton, Pamela V Tran, et al.
Cancers
|
March 13, 2024
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes
Huma Q Rana, Diane R Koeller, McKenzie Walker, et al.
Frontiers in Oncology
|
February 12, 2024
Development and evaluation of INT<sup>2</sup>GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome
Raymond A Isidro, Anu Chittenden, McKenzie Walker, et al.
The Journal of Molecular Diagnostics : JMD
|
February 19, 2020
ViroPanel: Hybrid Capture and Massively Parallel Sequencing for Simultaneous Detection and Profiling of Oncogenic Virus Infection and Tumor Genome
Michael K Slevin, Bruce M Wollison, Winslow Powers, et al.
Nature Communications
|
January 21, 2015
ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning
Peter G Czarnecki, George C Gabriel, Danielle K Manning, et al.
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Search research articles
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Showing results (11-20 of 25) with videos related to
Sort By:
Page
of 3
European Journal of Medical Genetics
|
October 10, 2021
Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results
Huma Q Rana, Diane R Koeller, Alison Schwartz, et al.
Neural Development
|
January 11, 2011
A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype
Noelle D Dwyer, Danielle K Manning, Jennifer L Moran, et al.
Molecular Cell
|
August 27, 2013
NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies
Hyo Jei Claudia Choi, Jia-Ren Lin, Jean-Baptiste Vannier, et al.
The Journal of Molecular Diagnostics : JMD
|
July 1, 2020
Targeted Informatics for Optimal Detection, Characterization, and Quantification of FLT3 Internal Tandem Duplications Across Multiple Next-Generation Sequencing Platforms
Harrison K Tsai, Diane G Brackett, David Szeto, et al.
Frontiers in Oncology
|
September 12, 2022
An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes
Alison Schwartz, Danielle K Manning, Diane R Koeller, et al.
Genome Research
|
February 8, 2006
Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse
Jennifer L Moran, Andrew D Bolton, Pamela V Tran, et al.
Cancers
|
March 13, 2024
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes
Huma Q Rana, Diane R Koeller, McKenzie Walker, et al.
Frontiers in Oncology
|
February 12, 2024
Development and evaluation of INT<sup>2</sup>GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome
Raymond A Isidro, Anu Chittenden, McKenzie Walker, et al.
The Journal of Molecular Diagnostics : JMD
|
February 19, 2020
ViroPanel: Hybrid Capture and Massively Parallel Sequencing for Simultaneous Detection and Profiling of Oncogenic Virus Infection and Tumor Genome
Michael K Slevin, Bruce M Wollison, Winslow Powers, et al.
Nature Communications
|
January 21, 2015
ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning
Peter G Czarnecki, George C Gabriel, Danielle K Manning, et al.
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