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The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder

Brain & development (Tokyo. 1979), 2016-01, Vol.38 (1), p.124-127

2016

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RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

American journal of human genetics, 2012-09, Vol.91 (3), p.533-540

2012

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Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals

Neurology, 2019-10, Vol.93 (14), p.e1360

2019

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The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

Genetics in medicine, 2015-11, Vol.17 (11), p.843-853

2015

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Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder

Neurobiology of disease, 2017-12, Vol.108, p.298-306

2017

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A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Nature genetics, 1999-12, Vol.23 (4), p.462-465

1999

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Neurological findings in incontinentia pigmenti; a review

European journal of medical genetics, 2012-05, Vol.55 (5), p.323-331

2012

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Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

American journal of human genetics, 2011-08, Vol.89 (2), p.265-276

2011

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CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia

Neurology, 2016-03, Vol.86 (9), p.877

2016

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DNA analysis of AHI1 , NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands

European journal of medical genetics, 2008-01, Vol.51 (1), p.24-34

2008

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Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

Human mutation, 2009-02, Vol.30 (2), p.E404-E420

2009

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Definitions and classification of malformations of cortical development: practical guidelines

Brain (London, England : 1878), 2020-10, Vol.143 (10), p.2874-2894

2020

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XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

Nature (London), 2017-01, Vol.541 (7635), p.87-91

2017

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Contiguous mutation syndrome in the era of high‐throughput sequencing

Molecular genetics & genomic medicine, 2015-05, Vol.3 (3), p.215-220

2015

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Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome

PLoS genetics, 2018-04, Vol.14 (4), p.e1007363-e1007363

2018

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USP18 lack in microglia causes destructive interferonopathy of the mouse brain

The EMBO journal, 2015-06, Vol.34 (12), p.1612-1629

2015

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Magnetic resonance imaging pattern recognition in hypomyelinating disorders

Brain (London, England : 1878), 2010-10, Vol.133 (10), p.2971-2982

2010

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Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletion

European journal of medical genetics, 2013-06, Vol.56 (6), p.331-335

2013

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Nature genetics, 2012-08, Vol.44 (8), p.934-940

2012

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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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Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

Human mutation, 2004-06, Vol.23 (6), p.576-581

2004

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The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder

RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Neurological findings in incontinentia pigmenti; a review

Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia

DNA analysis of AHI1 , NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

Definitions and classification of malformations of cortical development: practical guidelines

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

Contiguous mutation syndrome in the era of high‐throughput sequencing

Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome

USP18 lack in microglia causes destructive interferonopathy of the mouse brain

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletion

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

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