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Ryan L Collins

Showing results (11-20 of 54) with videos related to

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Nature Communications|July 20, 2023
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individualsLudovica Montanucci, David Lewis-Smith, Ryan L Collins, et al.
Nature Neuroscience|February 2, 2016
Engineering microdeletions and microduplications by targeting segmental duplications with CRISPRDerek J C Tai, Ashok Ragavendran, Poornima Manavalan, et al.
American Journal of Human Genetics|June 23, 2015
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural VariationHarrison Brand, Ryan L Collins, Carrie Hanscom, et al.
Bioinformatics (Oxford, England)|April 27, 2023
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants onlineMarie Macnee, Eduardo Pérez-Palma, Tobias Brünger, et al.
Nature Genetics|January 24, 2024
Author Correction: GATK-gCNV enables the discovery of rare copy number variants from exome sequencing dataMehrtash Babadi, Jack M Fu, Samuel K Lee, et al.
Nature Genetics|August 21, 2023
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing dataMehrtash Babadi, Jack M Fu, Samuel K Lee, et al.
European Journal of Human Genetics : EJHG|July 7, 2016
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delaySamantha Lp Schilit, Benjamin B Currall, Ruen Yao, et al.
Biorxiv : the Preprint Server for Biology|May 15, 2024
Rare germline structural variants increase risk for pediatric solid tumorsRiaz Gillani, Ryan L Collins, Jett Crowdis, et al.
Science (New York, N.Y.)|January 2, 2025
Rare germline structural variants increase risk for pediatric solid tumorsRiaz Gillani, Ryan L Collins, Jett Crowdis, et al.
Human Molecular Genetics|January 12, 2021
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphsRoy Jung, Yejin Lee, Douglas Barker, et al.
Pageof 6

Showing results (11-20 of 54) with videos related to

Sort By:
Pageof 6
Nature Communications|July 20, 2023
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individualsLudovica Montanucci, David Lewis-Smith, Ryan L Collins, et al.
Nature Neuroscience|February 2, 2016
Engineering microdeletions and microduplications by targeting segmental duplications with CRISPRDerek J C Tai, Ashok Ragavendran, Poornima Manavalan, et al.
American Journal of Human Genetics|June 23, 2015
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural VariationHarrison Brand, Ryan L Collins, Carrie Hanscom, et al.
Bioinformatics (Oxford, England)|April 27, 2023
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants onlineMarie Macnee, Eduardo Pérez-Palma, Tobias Brünger, et al.
Nature Genetics|January 24, 2024
Author Correction: GATK-gCNV enables the discovery of rare copy number variants from exome sequencing dataMehrtash Babadi, Jack M Fu, Samuel K Lee, et al.
Nature Genetics|August 21, 2023
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing dataMehrtash Babadi, Jack M Fu, Samuel K Lee, et al.
European Journal of Human Genetics : EJHG|July 7, 2016
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delaySamantha Lp Schilit, Benjamin B Currall, Ruen Yao, et al.
Biorxiv : the Preprint Server for Biology|May 15, 2024
Rare germline structural variants increase risk for pediatric solid tumorsRiaz Gillani, Ryan L Collins, Jett Crowdis, et al.
Science (New York, N.Y.)|January 2, 2025
Rare germline structural variants increase risk for pediatric solid tumorsRiaz Gillani, Ryan L Collins, Jett Crowdis, et al.
Human Molecular Genetics|January 12, 2021
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphsRoy Jung, Yejin Lee, Douglas Barker, et al.
Pageof 6