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The Genetic Basis of Hydrocephalus

Annual review of neuroscience, 2016-07, Vol.39 (1), p.409-435

2016

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Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

Nature genetics, 2018-04, Vol.50 (4), p.538-548

2018

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Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

Proceedings of the National Academy of Sciences - PNAS, 2014-03, Vol.111 (11), p.4197-4202

2014

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CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

American journal of human genetics, 2015-02, Vol.96 (2), p.245-257

2015

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PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia

Nature communications, 2020-11, Vol.11 (1), p.5903-5903, Article 5903

2020

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Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

Human genomics, 2019-04, Vol.13 (1), p.19-19, Article 19

2019

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Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Brain (London, England : 1878), 2009-03, Vol.132 (3), p.810-819

2009

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Genetic modifiers and oligogenic inheritance

Cold Spring Harbor perspectives in medicine, 2015-06, Vol.5 (6), p.a017145-a017145

2015

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Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

Human mutation, 2012-01, Vol.33 (1), p.42-63

2012

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Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

Human molecular genetics, 2015-10, Vol.24 (20), p.5677-5686

2015

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RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

American journal of human genetics, 2017-09, Vol.101 (3), p.466-477

2017

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Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

The New England journal of medicine, 2013-05, Vol.368 (21), p.1992-2003

2013

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Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Nature genetics, 2020-11, Vol.52 (11), p.1145-1150

2020

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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

American journal of human genetics, 2015-12, Vol.97 (6), p.922-932

2015

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CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Genome Biology, 2024-02, Vol.25 (1), p.53-46, Article 53

2024

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Identification of cis-suppression of human disease mutations by comparative genomics

Nature (London), 2015-08, Vol.524 (7564), p.225-229

2015

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ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

Brain (London, England : 1878), 2017-05, Vol.140 (5), p.1267-1279

2017

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Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Journal of medical genetics, 2012-06, Vol.49 (6), p.391-399

2012

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Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI‐5

Human mutation, 2019-09, Vol.40 (9), p.1474-1485

2019

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Targeted Resequencing and Systematic In Vivo Functional Testing Identifies Rare Variants in MEIS1 as Significant Contributors to Restless Legs Syndrome

American journal of human genetics, 2014-07, Vol.95 (1), p.85-95

2014

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The Genetic Basis of Hydrocephalus

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Genetic modifiers and oligogenic inheritance

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

Exome sequence analysis suggests genetic burden contributes to phenotypic variability and complex neuropathy

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Identification of cis-suppression of human disease mutations by comparative genomics

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI‐5

Targeted Resequencing and Systematic In Vivo Functional Testing Identifies Rare Variants in MEIS1 as Significant Contributors to Restless Legs Syndrome

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