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Timothy W Yu

Showing results (81-90 of 92) with videos related to

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Nature Medicine|April 14, 2026
Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathyTojo Nakayama, Christelle M El Achkar, Lisseth E Burbano, et al.
European Journal of Human Genetics : EJHG|October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndromeKarim Karimi, Denisa Weis, Ingvild Aukrust, et al.
Pediatrics|January 19, 2017
Newborn Sequencing in Genomic Medicine and Public HealthJonathan S Berg, Pankaj B Agrawal, Donald B Bailey, et al.
Molecular Genetics & Genomic Medicine|September 14, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanismsMegan Yabumoto, Jessica Kianmahd, Meghna Singh, et al.
The New England Journal of Medicine|October 10, 2019
Patient-Customized Oligonucleotide Therapy for a Rare Genetic DiseaseJinkuk Kim, Chunguang Hu, Christelle Moufawad El Achkar, et al.
Neuron|September 25, 2015
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk LociStephan J Sanders, Xin He, A Jeremy Willsey, et al.
Neuron|January 29, 2013
Using whole-exome sequencing to identify inherited causes of autismTimothy W Yu, Maria H Chahrour, Michael E Coulter, et al.
Neuron|June 11, 2011
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autismStephan J Sanders, A Gulhan Ercan-Sencicek, Vanessa Hus, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K Harris, Tojo Nakayama, Jenny Lai, et al.
Nature|November 4, 2014
Synaptic, transcriptional and chromatin genes disrupted in autismSilvia De Rubeis, Xin He, Arthur P Goldberg, et al.
Pageof 10

Showing results (81-90 of 92) with videos related to

Sort By:
Pageof 10
Nature Medicine|April 14, 2026
Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathyTojo Nakayama, Christelle M El Achkar, Lisseth E Burbano, et al.
European Journal of Human Genetics : EJHG|October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndromeKarim Karimi, Denisa Weis, Ingvild Aukrust, et al.
Pediatrics|January 19, 2017
Newborn Sequencing in Genomic Medicine and Public HealthJonathan S Berg, Pankaj B Agrawal, Donald B Bailey, et al.
Molecular Genetics & Genomic Medicine|September 14, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanismsMegan Yabumoto, Jessica Kianmahd, Meghna Singh, et al.
The New England Journal of Medicine|October 10, 2019
Patient-Customized Oligonucleotide Therapy for a Rare Genetic DiseaseJinkuk Kim, Chunguang Hu, Christelle Moufawad El Achkar, et al.
Neuron|September 25, 2015
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk LociStephan J Sanders, Xin He, A Jeremy Willsey, et al.
Neuron|January 29, 2013
Using whole-exome sequencing to identify inherited causes of autismTimothy W Yu, Maria H Chahrour, Michael E Coulter, et al.
Neuron|June 11, 2011
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autismStephan J Sanders, A Gulhan Ercan-Sencicek, Vanessa Hus, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K Harris, Tojo Nakayama, Jenny Lai, et al.
Nature|November 4, 2014
Synaptic, transcriptional and chromatin genes disrupted in autismSilvia De Rubeis, Xin He, Arthur P Goldberg, et al.
Pageof 10