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Neurology
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May 31, 2022
Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis
Ryan L Davis, Kishore R Kumar, Clare Puttick, et al.
Cell Reports. Medicine
|
February 10, 2026
TNF-⍺-mediated myeloid-instructed CD14<sup>+</sup>CD4<sup>+</sup> T cells are associated with poor survival in lung adenocarcinoma
Claire Marceaux, Ilariya Tarasova, Daniel Batey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 3, 2018
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy
Andre E Minoche, Claire Horvat, Renee Johnson, et al.
Genome Biology
|
May 17, 2023
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Patricia J Sullivan, Velimir Gayevskiy, Ryan L Davis, et al.
Human Mutation
|
August 28, 2022
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy
Rocio Rius, Neal K Bennett, Kaustuv Bhattacharya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 29, 2018
Response to Brodehl et al
Andre E Minoche, Claire Horvat, Renee Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 22, 2020
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, et al.
European Journal of Human Genetics : EJHG
|
January 13, 2021
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
Amali C Mallawaarachchi, Ben Lundie, Yvonne Hort, et al.
British Journal of Cancer
|
September 18, 2018
Brief Report: Potent clinical and radiological response to larotrectinib in TRK fusion-driven high-grade glioma
David S Ziegler, Marie Wong, Chelsea Mayoh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 30, 2018
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
Lisa J Ewans, Deborah Schofield, Rupendra Shrestha, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 47) with videos related to
Sort By:
Page
of 5
Neurology
|
May 31, 2022
Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis
Ryan L Davis, Kishore R Kumar, Clare Puttick, et al.
Cell Reports. Medicine
|
February 10, 2026
TNF-⍺-mediated myeloid-instructed CD14<sup>+</sup>CD4<sup>+</sup> T cells are associated with poor survival in lung adenocarcinoma
Claire Marceaux, Ilariya Tarasova, Daniel Batey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 3, 2018
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy
Andre E Minoche, Claire Horvat, Renee Johnson, et al.
Genome Biology
|
May 17, 2023
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Patricia J Sullivan, Velimir Gayevskiy, Ryan L Davis, et al.
Human Mutation
|
August 28, 2022
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy
Rocio Rius, Neal K Bennett, Kaustuv Bhattacharya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 29, 2018
Response to Brodehl et al
Andre E Minoche, Claire Horvat, Renee Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 22, 2020
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, et al.
European Journal of Human Genetics : EJHG
|
January 13, 2021
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
Amali C Mallawaarachchi, Ben Lundie, Yvonne Hort, et al.
British Journal of Cancer
|
September 18, 2018
Brief Report: Potent clinical and radiological response to larotrectinib in TRK fusion-driven high-grade glioma
David S Ziegler, Marie Wong, Chelsea Mayoh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 30, 2018
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
Lisa J Ewans, Deborah Schofield, Rupendra Shrestha, et al.
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of 5