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Annual Review of Genomics and Human Genetics
|
July 1, 2016
Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing
Natasha T Strande, Jonathan S Berg
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 11, 2018
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease
Natasha T Strande, Sarah E Brnich, Tamara S Roman, et al.
DNA Repair
|
March 18, 2014
Nonhomologous end joining: a good solution for bad ends
Crystal A Waters, Natasha T Strande, David W Wyatt, et al.
Current Genetics
|
March 11, 2008
UV sensitive mutations in histone H3 in Saccharomyces cerevisiae that alter specific K79 methylation states genetically act through distinct DNA repair pathways
Margery L Evans, Lindsey J Bostelman, Ashley M Albrecht, et al.
Biorxiv : the Preprint Server for Biology
|
December 16, 2024
One-Size-Fits-Many: Antisense oligonucleotides for rescuing splicing mutations in hotspot exons
Chaorui Duan, Stephen Rong, Luke Buerer, et al.
Nucleic Acids Research
|
September 10, 2014
Requirements for 5'dRP/AP lyase activity in Ku
Natasha T Strande, Juan Carvajal-Garcia, Ryan A Hallett, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 16, 2025
Single Antisense Oligonucleotides Correct Diverse Splicing Mutations in Hotspot Exons
Chaorui Duan, Stephen Rong, Luke Buerer, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
February 12, 2021
Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project
Melissa A Kelly, Joseph B Leader, Karen E Wain, et al.
Kidney International
|
December 27, 2022
Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease
Benjamin Apple, Gino Sartori, Bryn Moore, et al.
Kidney International Reports
|
October 18, 2023
The Phenotypic Spectrum of <i>COL4A3</i> Heterozygotes
Kaushal V Solanki, Yirui Hu, Bryn S Moore, et al.
Page
of 4
Search research articles
Search
Showing results (1-10 of 35) with videos related to
Sort By:
Page
of 4
Annual Review of Genomics and Human Genetics
|
July 1, 2016
Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing
Natasha T Strande, Jonathan S Berg
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 11, 2018
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease
Natasha T Strande, Sarah E Brnich, Tamara S Roman, et al.
DNA Repair
|
March 18, 2014
Nonhomologous end joining: a good solution for bad ends
Crystal A Waters, Natasha T Strande, David W Wyatt, et al.
Current Genetics
|
March 11, 2008
UV sensitive mutations in histone H3 in Saccharomyces cerevisiae that alter specific K79 methylation states genetically act through distinct DNA repair pathways
Margery L Evans, Lindsey J Bostelman, Ashley M Albrecht, et al.
Biorxiv : the Preprint Server for Biology
|
December 16, 2024
One-Size-Fits-Many: Antisense oligonucleotides for rescuing splicing mutations in hotspot exons
Chaorui Duan, Stephen Rong, Luke Buerer, et al.
Nucleic Acids Research
|
September 10, 2014
Requirements for 5'dRP/AP lyase activity in Ku
Natasha T Strande, Juan Carvajal-Garcia, Ryan A Hallett, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 16, 2025
Single Antisense Oligonucleotides Correct Diverse Splicing Mutations in Hotspot Exons
Chaorui Duan, Stephen Rong, Luke Buerer, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
February 12, 2021
Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project
Melissa A Kelly, Joseph B Leader, Karen E Wain, et al.
Kidney International
|
December 27, 2022
Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease
Benjamin Apple, Gino Sartori, Bryn Moore, et al.
Kidney International Reports
|
October 18, 2023
The Phenotypic Spectrum of <i>COL4A3</i> Heterozygotes
Kaushal V Solanki, Yirui Hu, Bryn S Moore, et al.
Page
of 4