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Joshua D Smith

Showing results (171-180 of 194) with videos related to

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Nature|May 3, 2008
Mapping and sequencing of structural variation from eight human genomesJeffrey M Kidd, Gregory M Cooper, William F Donahue, et al.
American Journal of Human Genetics|July 14, 2015
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesJessica X Chong, Kati J Buckingham, Shalini N Jhangiani, et al.
Nature|November 4, 2014
The contribution of de novo coding mutations to autism spectrum disorderIvan Iossifov, Brian J O'Roak, Stephan J Sanders, et al.
American Journal of Human Genetics|September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological SyndromesTamar Harel, Wan Hee Yoon, Caterina Garone, et al.
Biorxiv : the Preprint Server for Biology|August 16, 2024
A familial, telomere-to-telomere reference for human <i>de novo</i> mutation and recombination from a four-generation pedigreeDavid Porubsky, Harriet Dashnow, Thomas A Sasani, 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|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.
Nature|April 24, 2025
Human de novo mutation rates from a four-generation pedigree referenceDavid Porubsky, Harriet Dashnow, Thomas A Sasani, et al.
Medrxiv : the Preprint Server for Health Sciences|June 12, 2025
Omic Risk Scores are Associated with COPD-related Traits Across Three CohortsIain R Konigsberg, Luciana B Vargas, Katherine A Pratte, et al.
Medrxiv : the Preprint Server for Health Sciences|March 4, 2025
Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMedPeter Orchard, Thomas W Blackwell, Linda Kachuri, et al.
Pageof 20

Showing results (171-180 of 194) with videos related to

Sort By:
Pageof 20
Nature|May 3, 2008
Mapping and sequencing of structural variation from eight human genomesJeffrey M Kidd, Gregory M Cooper, William F Donahue, et al.
American Journal of Human Genetics|July 14, 2015
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesJessica X Chong, Kati J Buckingham, Shalini N Jhangiani, et al.
Nature|November 4, 2014
The contribution of de novo coding mutations to autism spectrum disorderIvan Iossifov, Brian J O'Roak, Stephan J Sanders, et al.
American Journal of Human Genetics|September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological SyndromesTamar Harel, Wan Hee Yoon, Caterina Garone, et al.
Biorxiv : the Preprint Server for Biology|August 16, 2024
A familial, telomere-to-telomere reference for human <i>de novo</i> mutation and recombination from a four-generation pedigreeDavid Porubsky, Harriet Dashnow, Thomas A Sasani, 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|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.
Nature|April 24, 2025
Human de novo mutation rates from a four-generation pedigree referenceDavid Porubsky, Harriet Dashnow, Thomas A Sasani, et al.
Medrxiv : the Preprint Server for Health Sciences|June 12, 2025
Omic Risk Scores are Associated with COPD-related Traits Across Three CohortsIain R Konigsberg, Luciana B Vargas, Katherine A Pratte, et al.
Medrxiv : the Preprint Server for Health Sciences|March 4, 2025
Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMedPeter Orchard, Thomas W Blackwell, Linda Kachuri, et al.
Pageof 20