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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

Human genetics, 2011-10, Vol.130 (4), p.563-573

2011

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A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura

Nature medicine, 2010-10, Vol.16 (10), p.1157-1160

2010

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A population genetic approach to mapping neurological disorder genes using deep resequencing

PLoS genetics, 2011-02, Vol.7 (2), p.e1001318-e1001318

2011

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Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation

The New England journal of medicine, 2009-02, Vol.360 (6), p.599-605

2009

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De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

Annals of neurology, 2009-06, Vol.65 (6), p.748-753

2009

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WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio)

PLoS genetics, 2013-01, Vol.9 (1), p.e1003124-e1003124

2013

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Migraine: Role of the TRESK two-pore potassium channel

The international journal of biochemistry & cell biology, 2011-11, Vol.43 (11), p.1533-1536

2011

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Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder

Genome, 2013-10, Vol.56 (10), p.634

2013

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Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

The Journal of clinical investigation, 2008-07, Vol.118 (7), p.2496-2505

2008

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Identification of Novel Genes Involved in Migraine

Headache, 2012-10, Vol.52 (s2), p.107-110

2012

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Functional analysis of missense variants in the TRESK (KCNK18) K channel

Scientific reports, 2012, Vol.2 (1), p.237-237, Article 237

2012

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Novel de novo SHANK3 mutation in autistic patients

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2009-04, Vol.150B (3), p.421-424

2009

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De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

American journal of human genetics, 2010-11, Vol.87 (5), p.671-678

2010

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Genetic control of high density lipoprotein-cholesterol in AcB/BcA recombinant congenic strains of mice

Physiological genomics, 2012-09, Vol.44 (17), p.843-852

2012

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Mutations in the calcium-related gene IL1RAPL1 are associated with autism

Human molecular genetics, 2008-12, Vol.17 (24), p.3965-3974

2008

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A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family

Annals of neurology, 2004-10, Vol.56 (4), p.572-575

2004

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MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels

Human molecular genetics, 2009-03, Vol.18 (6), p.1065-1074

2009

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De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia

Biological psychiatry (1969), 2010-10, Vol.68 (7), p.649-656

2010

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Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)

Epilepsy research, 2003-02, Vol.53 (1), p.107-117

2003

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Mechanisms of uptake and resistance to troxacitabine, a novel deoxycytidine nucleoside analogue, in human leukemic and solid tumor cell lines

Cancer research (Chicago, Ill.), 2001-10, Vol.61 (19), p.7217-7224

2001

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Analysis of microsatellite markers and single nucleotide polymorphisms in candidate genes for susceptibility to bipolar affective disorder in the chromosome 12Q24.31 region

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2005-05, Vol.135B (1), p.50-58

2005

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Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

M.S. Médecine sciences, 2009-03, Vol.25 (3), p.235

2009

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura

A population genetic approach to mapping neurological disorder genes using deep resequencing

Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio)

Migraine: Role of the TRESK two-pore potassium channel

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

Identification of Novel Genes Involved in Migraine

Functional analysis of missense variants in the TRESK (KCNK18) K channel

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

Novel de novo SHANK3 mutation in autistic patients

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

Genetic control of high density lipoprotein-cholesterol in AcB/BcA recombinant congenic strains of mice

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family

MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels

De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)

Mechanisms of uptake and resistance to troxacitabine, a novel deoxycytidine nucleoside analogue, in human leukemic and solid tumor cell lines

Analysis of microsatellite markers and single nucleotide polymorphisms in candidate genes for susceptibility to bipolar affective disorder in the chromosome 12Q24.31 region

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

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