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Thomas J Nicholas

Showing results (11-20 of 25) with videos related to

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Andrology|December 11, 2023
Genome sequencing of Pakistani families with male infertility identifies deleterious genotypes in SPAG6, CCDC9, TKTL1, TUBA3C, and M1APMuhammad Riaz Khan, Arvand Akbari, Thomas J Nicholas, et al.
Medrxiv : the Preprint Server for Health Sciences|March 17, 2025
Intragenic deletions from whole genome sequencing of 1054 suicide deathsEmily DiBlasi, Andrey A Shabalin, Thomas J Nicholas, et al.
Blood Advances|March 3, 2025
Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencingTing Wen, Steven E Boyden, Caleb M Hocutt, et al.
American Journal of Human Genetics|March 6, 2021
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 familiesJonathan R Belyeu, Harrison Brand, Harold Wang, et al.
Hepatology (Baltimore, Md.)|April 1, 2024
Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiencyEdgar N Tafaleng, Jie Li, Yan Wang, et al.
Biorxiv : the Preprint Server for Biology|April 10, 2026
A family portrait of the genomic factors shaping tandem repeat mutagenesisThomas A Sasani, Michael E Goldberg, Akshay K Avvaru, et al.
Cold Spring Harbor Molecular Case Studies|November 15, 2022
Rapid genome sequencing identifies a novel de novo <i>SNAP25</i> variant for neonatal congenital myasthenic syndromeHayley M Reynolds, Ting Wen, Andrew Farrell, et al.
Genome Research|April 25, 2014
Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesisHenne Holstege, Wayne Pfeiffer, Daoud Sie, et al.
BMC Medical Genomics|November 14, 2025
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease casesRobert G Lewis, John M O'Shea, Lucilla Pizzo, et al.
Molecular Genetics & Genomic Medicine|February 4, 2022
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic herniaThomas J Nicholas, Najla Al-Sweel, Andrew Farrell, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
Andrology|December 11, 2023
Genome sequencing of Pakistani families with male infertility identifies deleterious genotypes in SPAG6, CCDC9, TKTL1, TUBA3C, and M1APMuhammad Riaz Khan, Arvand Akbari, Thomas J Nicholas, et al.
Medrxiv : the Preprint Server for Health Sciences|March 17, 2025
Intragenic deletions from whole genome sequencing of 1054 suicide deathsEmily DiBlasi, Andrey A Shabalin, Thomas J Nicholas, et al.
Blood Advances|March 3, 2025
Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencingTing Wen, Steven E Boyden, Caleb M Hocutt, et al.
American Journal of Human Genetics|March 6, 2021
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 familiesJonathan R Belyeu, Harrison Brand, Harold Wang, et al.
Hepatology (Baltimore, Md.)|April 1, 2024
Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiencyEdgar N Tafaleng, Jie Li, Yan Wang, et al.
Biorxiv : the Preprint Server for Biology|April 10, 2026
A family portrait of the genomic factors shaping tandem repeat mutagenesisThomas A Sasani, Michael E Goldberg, Akshay K Avvaru, et al.
Cold Spring Harbor Molecular Case Studies|November 15, 2022
Rapid genome sequencing identifies a novel de novo <i>SNAP25</i> variant for neonatal congenital myasthenic syndromeHayley M Reynolds, Ting Wen, Andrew Farrell, et al.
Genome Research|April 25, 2014
Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesisHenne Holstege, Wayne Pfeiffer, Daoud Sie, et al.
BMC Medical Genomics|November 14, 2025
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease casesRobert G Lewis, John M O'Shea, Lucilla Pizzo, et al.
Molecular Genetics & Genomic Medicine|February 4, 2022
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic herniaThomas J Nicholas, Najla Al-Sweel, Andrew Farrell, et al.
Pageof 3