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Stephan J Sanders

Showing results (141-150 of 154) with videos related to

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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.
American Journal of Human Genetics|April 17, 2018
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar AtaxiaClaire Guissart, Xenia Latypova, Paul Rollier, et al.
American Journal of Human Genetics|January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
American Journal of Human Genetics|April 8, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
Nature Genetics|August 18, 2022
Rare coding variation provides insight into the genetic architecture and phenotypic context of autismJack M Fu, F Kyle Satterstrom, Minshi Peng, 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.
Nature|November 4, 2014
Synaptic, transcriptional and chromatin genes disrupted in autismSilvia De Rubeis, Xin He, Arthur P Goldberg, et al.
Nature Genetics|May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Pageof 16

Showing results (141-150 of 154) with videos related to

Sort By:
Pageof 16
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.
American Journal of Human Genetics|April 17, 2018
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar AtaxiaClaire Guissart, Xenia Latypova, Paul Rollier, et al.
American Journal of Human Genetics|January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
American Journal of Human Genetics|April 8, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
Nature Genetics|August 18, 2022
Rare coding variation provides insight into the genetic architecture and phenotypic context of autismJack M Fu, F Kyle Satterstrom, Minshi Peng, 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.
Nature|November 4, 2014
Synaptic, transcriptional and chromatin genes disrupted in autismSilvia De Rubeis, Xin He, Arthur P Goldberg, et al.
Nature Genetics|May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Pageof 16