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Jennifer L Howe

Showing results (21-30 of 38) with videos related to

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American Journal of Human Genetics|December 20, 2024
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locusMarcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
JAMA|September 2, 2015
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum DisorderKristiina Tammimies, Christian R Marshall, Susan Walker, et al.
American Journal of Human Genetics|July 16, 2013
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencingYong-hui Jiang, Ryan K C Yuen, Xin Jin, et al.
Human Molecular Genetics|May 17, 2023
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networksMaria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, et al.
Nature|July 28, 2020
Genome-wide detection of tandem DNA repeats that are expanded in autismBrett Trost, Worrawat Engchuan, Charlotte M Nguyen, et al.
Brain : a Journal of Neurology|August 18, 2022
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASDLisa Pavinato, Andrea Delle Vedove, Diana Carli, et al.
Brain : a Journal of Neurology|July 28, 2025
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatoniaHarsha Murthy, Ny Hoang, Jamie C Stark, et al.
NPJ Genomic Medicine|August 16, 2016
Genome-wide characteristics of <i>de novo</i> mutations in autismRyan K C Yuen, Daniele Merico, Hongzhi Cao, et al.
NPJ Genomic Medicine|October 12, 2019
A large data resource of genomic copy number variation across neurodevelopmental disordersMehdi Zarrei, Christie L Burton, Worrawat Engchuan, et al.
Nature Genetics|March 30, 2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsyDarcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, et al.
Pageof 4

Showing results (21-30 of 38) with videos related to

Sort By:
Pageof 4
American Journal of Human Genetics|December 20, 2024
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locusMarcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
JAMA|September 2, 2015
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum DisorderKristiina Tammimies, Christian R Marshall, Susan Walker, et al.
American Journal of Human Genetics|July 16, 2013
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencingYong-hui Jiang, Ryan K C Yuen, Xin Jin, et al.
Human Molecular Genetics|May 17, 2023
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networksMaria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, et al.
Nature|July 28, 2020
Genome-wide detection of tandem DNA repeats that are expanded in autismBrett Trost, Worrawat Engchuan, Charlotte M Nguyen, et al.
Brain : a Journal of Neurology|August 18, 2022
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASDLisa Pavinato, Andrea Delle Vedove, Diana Carli, et al.
Brain : a Journal of Neurology|July 28, 2025
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatoniaHarsha Murthy, Ny Hoang, Jamie C Stark, et al.
NPJ Genomic Medicine|August 16, 2016
Genome-wide characteristics of <i>de novo</i> mutations in autismRyan K C Yuen, Daniele Merico, Hongzhi Cao, et al.
NPJ Genomic Medicine|October 12, 2019
A large data resource of genomic copy number variation across neurodevelopmental disordersMehdi Zarrei, Christie L Burton, Worrawat Engchuan, et al.
Nature Genetics|March 30, 2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsyDarcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, et al.
Pageof 4