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The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

Epilepsia (Copenhagen), 2016-11, Vol.57 (11), p.1858-1869

2016

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AnnotSV: an integrated tool for structural variations annotation

Bioinformatics, 2018-10, Vol.34 (20), p.3572-3574

2018

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XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

American journal of human genetics, 2013-08, Vol.93 (2), p.368-383

2013

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Modeling neurodevelopmental disorder-associated human AGO1 mutations in Caenorhabditis elegans Argonaute alg-1

Proceedings of the National Academy of Sciences - PNAS, 2024-03, Vol.121 (10), p.e2308255121

2024

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Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability

Biochemical Society transactions, 2020-06, Vol.48 (3), p.1199-1211

2020

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Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder

Biological psychiatry (1969), 2018-08, Vol.84 (4), p.239-252

2018

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Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B)

Movement disorders, 2023-10, Vol.38 (10), p.1950-1956

2023

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De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

Biological psychiatry (1969), 2011-05, Vol.69 (9), p.898-901

2011

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Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome

Journal of medical genetics, 2024-08, Vol.61 (11), p.1040-1044

2024

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Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

Human mutation, 2019-11, Vol.40 (11), p.2021-2032

2019

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Sex-specific impact of prenatal androgens on social brain default mode subsystems

Molecular psychiatry, 2020-09, Vol.25 (9), p.2175-2188

2020

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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

American journal of human genetics, 2019-09, Vol.105 (3), p.509-525

2019

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Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family

Human molecular genetics, 2015-10, Vol.24 (19), p.5581-5588

2015

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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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Reply to: “GNAO1 Haploinsufficiency Associated with a Mild Delayed‐Onset Dystonia Phenotype”

Movement disorders, 2022-12, Vol.37 (12), p.2466-2467

2022

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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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SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

Human molecular genetics, 2014-01, Vol.23 (1), p.90-103

2014

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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Journal of medical genetics, 2014-11, Vol.51 (11), p.724-736

2014

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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

American journal of human genetics, 2020-03, Vol.106 (3), p.338-355

2020

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Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype correlation

Epilepsia (Copenhagen), 2022-10, Vol.63 (10), p.2519-2533

2022

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Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes

Clinical genetics, 2022-10, Vol.102 (4), p.296-304

2022

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Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

European journal of human genetics : EJHG, 2017-04, Vol.25 (4), p.423-431

2017

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Defining the phenotypic spectrum of SLC6A1 mutations

Epilepsia (Copenhagen), 2018-02, Vol.59 (2), p.389-402

2018

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The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

AnnotSV: an integrated tool for structural variations annotation

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

Modeling neurodevelopmental disorder-associated human AGO1 mutations in Caenorhabditis elegans Argonaute alg-1

Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability

Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder

Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B)

De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

Sex-specific impact of prenatal androgens on social brain default mode subsystems

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family

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

Reply to: “GNAO1 Haploinsufficiency Associated with a Mild Delayed‐Onset Dystonia Phenotype”

Novel de novo SHANK3 mutation in autistic patients

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

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype correlation

Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

Defining the phenotypic spectrum of SLC6A1 mutations

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