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James T Bennett

Showing results (71-80 of 83) with videos related to

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The Journal of Pediatrics|February 15, 2015
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CAValerie L Luks, Nolan Kamitaki, Matthew P Vivero, et al.
Genetics in Medicine Open|November 1, 2024
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testingJonathan Marquez, Jennifer N Cech, Cate R Paschal, et al.
Annals of Clinical and Translational Neurology|May 17, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndromeJonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
A telomere-to-telomere map of somatic mutation burden and functional impact in cancerMin-Hwan Sohn, Danilo Dubocanin, Mitchell R Vollger, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read dataYoo-Jin Jiny Ha, Dominika Maziec, Julia Markowski, et al.
American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Biorxiv : the Preprint Server for Biology|February 27, 2026
Donor-specific assemblies enhance somatic structural variant detection in complex genomic regionsTaralynn M Mack, Jiadong Lin, Luyao Ren, et al.
American Journal of Human Genetics|September 3, 2019
Redefining the Etiologic Landscape of Cerebellar MalformationsKimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.
American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Nature|July 3, 2025
The Somatic Mosaicism across Human Tissues NetworkTim H H Coorens, Ji Won Oh, Yujin Angelina Choi, et al.
Pageof 9

Showing results (71-80 of 83) with videos related to

Sort By:
Pageof 9
The Journal of Pediatrics|February 15, 2015
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CAValerie L Luks, Nolan Kamitaki, Matthew P Vivero, et al.
Genetics in Medicine Open|November 1, 2024
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testingJonathan Marquez, Jennifer N Cech, Cate R Paschal, et al.
Annals of Clinical and Translational Neurology|May 17, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndromeJonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
A telomere-to-telomere map of somatic mutation burden and functional impact in cancerMin-Hwan Sohn, Danilo Dubocanin, Mitchell R Vollger, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read dataYoo-Jin Jiny Ha, Dominika Maziec, Julia Markowski, et al.
American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Biorxiv : the Preprint Server for Biology|February 27, 2026
Donor-specific assemblies enhance somatic structural variant detection in complex genomic regionsTaralynn M Mack, Jiadong Lin, Luyao Ren, et al.
American Journal of Human Genetics|September 3, 2019
Redefining the Etiologic Landscape of Cerebellar MalformationsKimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.
American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Nature|July 3, 2025
The Somatic Mosaicism across Human Tissues NetworkTim H H Coorens, Ji Won Oh, Yujin Angelina Choi, et al.
Pageof 9