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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

Proceedings of the National Academy of Sciences - PNAS, 2014-10, Vol.111 (42), p.E4468-E4477

2014

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The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

American journal of human genetics, 2016-02, Vol.98 (2), p.287-298

2016

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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Nature (London), 2012-05, Vol.485 (7398), p.363-367

2012

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Genetic modifiers of Huntington's disease

Movement disorders, 2014-09, Vol.29 (11), p.1359-1365

2014

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RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression

PloS one, 2015-12, Vol.10 (12), p.e0143563-e0143563

2015

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NF2/Merlin Is a Novel Negative Regulator of mTOR Complex 1, and Activation of mTORC1 Is Associated with Meningioma and Schwannoma Growth

Molecular and Cellular Biology, 2009-08, Vol.29 (15), p.4250-4261

2009

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A modifier of Huntington's disease onset at the MLH1 locus

Human molecular genetics, 2017-10, Vol.26 (19), p.3859-3867

2017

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Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out

Human molecular genetics, 2020-11, Vol.29 (18), p.3044-3053

2020

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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

Proceedings of the National Academy of Sciences - PNAS, 2010-08, Vol.107 (34), p.15140-15144

2010

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Downregulated MicroRNA-200a in Meningiomas Promotes Tumor Growth by Reducing E-Cadherin and Activating the Wnt/β-Catenin Signaling Pathway

Molecular and Cellular Biology, 2009-11, Vol.29 (21), p.5923-5940

2009

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16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

Nature communications, 2021-05, Vol.12 (1), p.2897-20, Article 2897

2021

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Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

American journal of human genetics, 2014-06, Vol.94 (6), p.870-883

2014

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Population-specific genetic modification of Huntington's disease in Venezuela

PLoS genetics, 2018-05, Vol.14 (5), p.e1007274

2018

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MicroRNAs located in the Hox gene clusters are implicated in huntington's disease pathogenesis

PLoS genetics, 2014-02, Vol.10 (2), p.e1004188-e1004188

2014

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Association between Microdeletion and Microduplication at 16p11.2 and Autism

The New England journal of medicine, 2008-02, Vol.358 (7), p.667-675

2008

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CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing

Nucleic acids research, 2022-12, Vol.50 (22), p.12809

2022

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Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

The New England journal of medicine, 2012-12, Vol.367 (23), p.2226-2232

2012

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Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

Human molecular genetics, 2013-05, Vol.22 (9), p.1816-1825

2013

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Genomewide association study for susceptibility genes contributing to familial Parkinson disease

Human genetics, 2009-01, Vol.124 (6), p.593-605

2009

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Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

American journal of human genetics, 2022-10, Vol.109 (10), p.1789-1813

2022

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Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

Human molecular genetics, 2014-04, Vol.23 (8), p.2005-2022

2014

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Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

American journal of human genetics, 2011-04, Vol.88 (4), p.469-481

2011

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Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase

American journal of human genetics, 2018-09, Vol.103 (3), p.349-357

2018

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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Genetic modifiers of Huntington's disease

RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

NF2/Merlin Is a Novel Negative Regulator of mTOR Complex 1, and Activation of mTORC1 Is Associated with Meningioma and Schwannoma Growth

A modifier of Huntington's disease onset at the MLH1 locus

Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

Downregulated MicroRNA-200a in Meningiomas Promotes Tumor Growth by Reducing E-Cadherin and Activating the Wnt/β-Catenin Signaling Pathway

16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

Population-specific genetic modification of Huntington's disease in Venezuela

MicroRNAs located in the Hox gene clusters are implicated in huntington's disease pathogenesis

Association between Microdeletion and Microduplication at 16p11.2 and Autism

CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

Complex reorganization and predominant non- homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase

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