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

Nucleic acids research, 2022-12, Vol.50 (22), p.12809-12828

2022

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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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Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2011-03, Vol.156B (2), p.225-232

2011

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Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease

Neurology, 2021-05, Vol.96 (19), p.e2395

2021

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The early-onset torsion dystonia gene ( DYT1 ) encodes an ATP-binding protein

Nature genetics, 1997-09, Vol.17 (1), p.40-48

1997

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A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three‐generation Chinese family

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2018-09, Vol.177 (6), p.589-595

2018

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Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice

Nature neuroscience, 2017-05, Vol.20 (5), p.648-660

2017

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Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

Journal of molecular medicine (Berlin, Germany), 2007-02, Vol.85 (2), p.149-161

2007

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Monozygotic twins discordant for neurofibromatosis 1

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.601-606

2010

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Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes

Harvard review of psychiatry, 2014-03, Vol.22 (2), p.65-75

2014

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Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR

Nature neuroscience, 2016-03, Vol.19 (3), p.517-522

2016

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Huntington's disease: seeing the pathogenic process through a genetic lens

Trends in biochemical sciences (Amsterdam. Regular ed.), 2006-09, Vol.31 (9), p.533-540

2006

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Huntington’s Disease Pathogenesis: Two Sequential Components

Journal of Huntington's disease, 2021-01, Vol.10 (1), p.35-51

2021

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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Nature genetics, 2008-06, Vol.40 (6), p.776-781

2008

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Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease

Biological psychiatry (1969), 2020-05, Vol.87 (9), p.857-865

2020

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Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice

Nature biotechnology, 2016-08, Vol.34 (8), p.838-844

2016

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Rare Deleterious PARD3 Variants in the aPKC‐Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation

Human mutation, 2017-04, Vol.38 (4), p.378-389

2017

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Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-06, Vol.153B (4), p.937-947

2010

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Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

Nature genetics, 1993-08, Vol.4 (4), p.393-397

1993

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Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease

Nature reviews. Neuroscience, 2000-11, Vol.1 (2), p.109-115

2000

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Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

Human genetics, 2013-05, Vol.132 (5), p.537-552

2013

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

Genetic modifiers of Huntington's disease

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

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

Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family

Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease

The early-onset torsion dystonia gene ( DYT1 ) encodes an ATP-binding protein

A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three‐generation Chinese family

Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

Monozygotic twins discordant for neurofibromatosis 1

Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset

Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR

Huntington's disease: seeing the pathogenic process through a genetic lens

Huntington’s Disease Pathogenesis: Two Sequential Components

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease

Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice

Rare Deleterious PARD3 Variants in the aPKC‐Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

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