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Barry Moore

Showing results (51-60 of 62) with videos related to

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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.
Medrxiv : the Preprint Server for Health Sciences|December 8, 2025
Genome x Environment analysis of Sudden Unexpected Infant Death unveils etiologic heterogeneity and strong cannabis and genetic disease risksStephen F Kingsmore, Gretchen Bandoli, Daniel C Helbling, et al.
NPJ Genomic Medicine|July 22, 2022
A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemiaChristopher A Simeone, Joseph L Wilkerson, Annelise M Poss, et al.
Discovery Medicine|July 29, 2011
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implicationsGholson J Lyon, Tao Jiang, Richard Van Wijk, et al.
Nature Biotechnology|May 20, 2014
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence dataHao Hu, Jared C Roach, Hilary Coon, et al.
Genome Medicine|October 14, 2021
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseasesFrancisco M De La Vega, Shimul Chowdhury, Barry Moore, 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.
American Journal of Human Genetics|June 25, 2011
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope, Kai Wang, Rune Evjenth, et al.
Hepatology (Baltimore, Md.)|January 22, 2019
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation SyndromeJohn-Paul Berauer, Anya I Mezina, David T Okou, et al.
American Journal of Human Genetics|December 6, 2024
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselectionStephen F Kingsmore, Meredith Wright, Laurie D Smith, et al.
Pageof 7

Showing results (51-60 of 62) with videos related to

Sort By:
Pageof 7
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.
Medrxiv : the Preprint Server for Health Sciences|December 8, 2025
Genome x Environment analysis of Sudden Unexpected Infant Death unveils etiologic heterogeneity and strong cannabis and genetic disease risksStephen F Kingsmore, Gretchen Bandoli, Daniel C Helbling, et al.
NPJ Genomic Medicine|July 22, 2022
A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemiaChristopher A Simeone, Joseph L Wilkerson, Annelise M Poss, et al.
Discovery Medicine|July 29, 2011
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implicationsGholson J Lyon, Tao Jiang, Richard Van Wijk, et al.
Nature Biotechnology|May 20, 2014
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence dataHao Hu, Jared C Roach, Hilary Coon, et al.
Genome Medicine|October 14, 2021
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseasesFrancisco M De La Vega, Shimul Chowdhury, Barry Moore, 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.
American Journal of Human Genetics|June 25, 2011
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope, Kai Wang, Rune Evjenth, et al.
Hepatology (Baltimore, Md.)|January 22, 2019
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation SyndromeJohn-Paul Berauer, Anya I Mezina, David T Okou, et al.
American Journal of Human Genetics|December 6, 2024
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselectionStephen F Kingsmore, Meredith Wright, Laurie D Smith, et al.
Pageof 7