List of works - Alexandra Afenjar

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

scientific article

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

scientific article

Key clinical features to identify girls with CDKL5 mutations

scientific article

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome

scientific article published on 29 November 2006

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

scientific article

The three stages of epilepsy in patients with CDKL5 mutations

scientific article

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

scientific article published on 4 March 2017

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

scientific article published on 23 November 2011

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

scientific article published on May 2013

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

scientific article published on 22 May 2013

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

scientific article

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

scientific article published on 3 April 2015

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

scientific article published on 10 June 2011

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

article

Spectrum of epilepsy in terminal 1p36 deletion syndrome

scientific article published on 21 November 2007

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort

scientific article published on 17 June 2016

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.

scientific article

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

article

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

scientific article

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

scientific article

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

scientific article published on 20 August 2015

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains.

scientific article published on 3 March 2016

Early neurological phenotype in 4 children with biallelic PRODH mutations

scientific article

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

scientific article published on 13 December 2012

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

scientific article published on 10 May 2015

Defining the phenotypic spectrum of SLC6A1 mutations

scientific article published on 8 January 2018

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

scientific article published on August 2010

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

scientific article published in Nature Communications

Infectious and immunologic phenotype of MECP2 duplication syndrome

scientific article published on 27 February 2015

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

Chromosome 14q32.2 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell Syndrome.

scientific article published on 11 April 2018

Type I hyperprolinemia: genotype/phenotype correlations

scientific article published in August 2010

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

scientific article

Creatine and guanidinoacetate reference values in a French population

scientific article published on 16 September 2013

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

scientific article published on 29 October 2015

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

scientific article published on 26 February 2018

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

scientific article published on 29 July 2016

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

scientific article

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.

scientific article published on 4 December 2017

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy

scientific article

Floating-Harbor Syndrome

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

scientific article published on 3 April 2009

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

scientific article published on 30 September 2015

Retinal involvement in two unrelated patients with Myhre syndrome

scientific article published on June 7, 2012

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

scientific article published on 26 August 2011

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

scientific article published on 12 July 2018

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

scientific article published on 28 March 2019

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

scientific article published on 16 May 2018

List of works by Alexandra Afenjar

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

Key clinical features to identify girls with CDKL5 mutations

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

The three stages of epilepsy in patients with CDKL5 mutations

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

New insights into genotype-phenotype correlation for GLI3 mutations

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

Spectrum of epilepsy in terminal 1p36 deletion syndrome

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains.

Early neurological phenotype in 4 children with biallelic PRODH mutations

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

Defining the phenotypic spectrum of SLC6A1 mutations

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Infectious and immunologic phenotype of MECP2 duplication syndrome

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Chromosome 14q32.2 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell Syndrome.

Type I hyperprolinemia: genotype/phenotype correlations

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Creatine and guanidinoacetate reference values in a French population

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy

Floating-Harbor Syndrome

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

Retinal involvement in two unrelated patients with Myhre syndrome

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.