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Daniele Merico

Showing results (51-60 of 94) with videos related to

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Biological Psychiatry|January 22, 2022
A Regional Burden of Sequence-Level Variation in the 22q11.2 Region Influences Schizophrenia Risk and Educational AttainmentElemi J Breetvelt, Karel C Smit, Jessica van Setten, et al.
Human Molecular Genetics|July 2, 2013
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarraysGregory Costain, Anath C Lionel, Daniele Merico, et al.
G3 (Bethesda, Md.)|January 1, 2013
A discovery resource of rare copy number variations in individuals with autism spectrum disorderAparna Prasad, Daniele Merico, Bhooma Thiruvahindrapuram, et al.
NPJ Genomic Medicine|November 19, 2021
Homozygous duplication identified by whole genome sequencing causes LRBA deficiencyDaniele Merico, Yehonatan Pasternak, Mehdi Zarrei, et al.
Nature Genetics|May 27, 2014
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorderMohammed Uddin, Kristiina Tammimies, Giovanna Pellecchia, et al.
G3 (Bethesda, Md.)|September 19, 2015
Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion SyndromeDaniele Merico, Mehdi Zarrei, Gregory Costain, et al.
Nucleic Acid Therapeutics|August 13, 2021
Transcriptome-Wide Off-Target Effects of Steric-Blocking OligonucleotidesErle M Holgersen, Shreshth Gandhi, Yongchao Zhou, et al.
Nature Medicine|July 18, 2017
Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanismDwi U Kemaladewi, Eleonora Maino, Elzbieta Hyatt, et al.
American Journal of Human Genetics|January 6, 2018
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence DataBrett Trost, Susan Walker, Zhuozhi Wang, et al.
NPJ Genomic Medicine|April 15, 2020
<i>ATP7B</i> variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skippingDaniele Merico, Carl Spickett, Matthew O'Hara, et al.
Pageof 10

Showing results (51-60 of 94) with videos related to

Sort By:
Pageof 10
Biological Psychiatry|January 22, 2022
A Regional Burden of Sequence-Level Variation in the 22q11.2 Region Influences Schizophrenia Risk and Educational AttainmentElemi J Breetvelt, Karel C Smit, Jessica van Setten, et al.
Human Molecular Genetics|July 2, 2013
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarraysGregory Costain, Anath C Lionel, Daniele Merico, et al.
G3 (Bethesda, Md.)|January 1, 2013
A discovery resource of rare copy number variations in individuals with autism spectrum disorderAparna Prasad, Daniele Merico, Bhooma Thiruvahindrapuram, et al.
NPJ Genomic Medicine|November 19, 2021
Homozygous duplication identified by whole genome sequencing causes LRBA deficiencyDaniele Merico, Yehonatan Pasternak, Mehdi Zarrei, et al.
Nature Genetics|May 27, 2014
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorderMohammed Uddin, Kristiina Tammimies, Giovanna Pellecchia, et al.
G3 (Bethesda, Md.)|September 19, 2015
Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion SyndromeDaniele Merico, Mehdi Zarrei, Gregory Costain, et al.
Nucleic Acid Therapeutics|August 13, 2021
Transcriptome-Wide Off-Target Effects of Steric-Blocking OligonucleotidesErle M Holgersen, Shreshth Gandhi, Yongchao Zhou, et al.
Nature Medicine|July 18, 2017
Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanismDwi U Kemaladewi, Eleonora Maino, Elzbieta Hyatt, et al.
American Journal of Human Genetics|January 6, 2018
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence DataBrett Trost, Susan Walker, Zhuozhi Wang, et al.
NPJ Genomic Medicine|April 15, 2020
<i>ATP7B</i> variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skippingDaniele Merico, Carl Spickett, Matthew O'Hara, et al.
Pageof 10