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List of works by Delphine Héron

0488: Predictive genetic testing in hereditary heart diseases: a single-center series of 304 subjects

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

scientific article

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

scientific article

A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.

scientific article

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

scientific article published on 10 April 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

scientific article published on 01 October 2018

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

scientific article published on 14 March 2019

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

scientific article

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

article

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

scientific article published on 18 January 2019

A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization

scientific article published on 7 December 2010

A new window on neurocognitive dysfunction in the childhood form of myotonic dystrophy type 1 (DM1).

scientific article published on 17 May 2011

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

scientific article published on 12 July 2019

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

scientific article published on 29 July 2016

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

scientific article published on 14 July 2009

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

scientific article

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

scientific article published on 27 September 2020

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

scientific article published on 30 May 2021

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

scientific article published in June 2006

Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q.

scientific article

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

scientific article published on 03 February 2020

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy

scientific article

Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations

scientific article published on 14 February 2020

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

scientific article published on 17 August 2007

Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF.

scientific article

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations

scientific article published on 9 March 2018

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

scientific article

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

scientific article published on 27 September 2017

Cognitive profile in childhood myotonic dystrophy type 1: is there a global impairment?

scientific article published on 12 April 2007

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

scientific article

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase

scientific article

Congenital immobility and stiffness related to biallelic ATAD1 variants

scientific article published on 24 September 2020

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

scientific article published on 8 March 2017

Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases

scientific article published on 31 December 2018

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

scientific article published on 01 July 2019

Creatine and guanidinoacetate reference values in a French population

scientific article published on 16 September 2013

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

scientific article

DYRK1A mutations in two unrelated patients

scientific article published on 30 January 2015

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

scientific article published on August 2017

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

scientific article published on 18 October 2018

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

scientific article published on 01 March 2019

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

scientific article published on 29 March 2019

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype

scientific article published on 07 February 2020

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

scientific article published on 19 May 2020

Deciphering the natural history of SCA7 in children

scientific article published on 17 June 2020

Deletion of filamin A in two female patients with periventricular nodular heterotopia

Delineating syndrome: From congenital microcephaly to hyperkinetic encephalopathy

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

scientific article published on 06 May 2016

Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives

scientific article published on 16 July 2019

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

scientific article

Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients

Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation

scientific article published in June 2004

Early neurological phenotype in 4 children with biallelic PRODH mutations

scientific article

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

scientific article published in October 2018

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

scientific article published on 01 July 2019

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

scholarly article published in European Journal of Human Genetics

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

scientific article published on 27 February 2020

Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.

scientific article published on 20 November 2009

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

scientific article published on 10 April 2020

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

scientific article published on May 2005

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

scientific article

FXTAS: new insights and the need for revised diagnostic criteria

scientific article published on 17 October 2012

Finger creases lend a hand in Kabuki syndrome.

scientific article

Floating-Harbor Syndrome

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

scientific article

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

scientific article published on 3 April 2015

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

scientific article published on 17 March 2016

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

scientific article published on 10 March 2017

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

scientific article published on 14 January 2020

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

scientific article published on 23 August 2018

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

scientific article published on 23 May 2019

Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study

publication published on 01 January 2021

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

scientific article

Growth charts in Kabuki syndrome 1

scientific article published on 26 December 2019

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

article

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

scientific article published on 09 May 2019

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020

Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome

scientific article

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders

scientific article

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

scientific article published in June 2012

Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA

scientific article published on 07 November 2011

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

scientific article published on 29 November 2006

Key clinical features to identify girls with CDKL5 mutations

scientific article

MECP2 Mutation in a Boy With Language Disorder and Schizophrenia ⬇️

scientific article published on January 1, 2002

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

scientific article published on 01 June 2010

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

scientific article

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome

scientific article published on 27 May 2009

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

scientific article (publication date: April 2009)

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

scientific article

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

scientific article

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

scientific article

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

scientific article published on 13 January 2016

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

scientific article

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

scientific article published on 15 May 2020

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

scientific article

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

scientific article

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

scientific article

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures

scientific article published on 01 May 2019

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

scientific article published on 9 October 2014

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

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum

scientific article published on 26 April 2012

PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration

scientific article published on 14 December 2019

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

scientific article published on 27 June 2013

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

scientific article published on 28 February 2020

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

scientific article published on 27 November 2017

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

article

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

scientific article published on 18 April 2013

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

scientific article published on 22 June 2020

Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case

article by Philippe Charron et al published September 2004 in Prenatal Diagnosis

Prenatal testing in Huntington disease: after the test, choices recommence

scientific article

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

scientific article published on May 2013

Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy

scientific article published on 19 June 2009

Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1 ⬇️

scientific article published on 03 August 2012

Pure proximal deletion of chromosome 21 and kyphosis

Reading and spelling impairments in children and adolescents with infantile myotonic dystrophy

Recurrent meiotic nondisjunction of maternal chromosome 15 in a sibship

Retinal involvement in two unrelated patients with Myhre syndrome ⬇️

scientific article published on June 7, 2012

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature

scientific article published on 23 October 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

scientific article published on 24 April 2019

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

scientific article published on 18 July 2011

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders

scientific article published on 17 March 2009

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

scientific article published on 13 December 2012

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

Searching for secondary findings: considering actionability and preserving the right not to know

scientific article published on 11 June 2019

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder

scientific article published on 03 December 2019

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

scientific article published on 22 May 2013

Sleep disorders in childhood-onset myotonic dystrophy type 1.

scientific article published on 23 August 2006

Smith-Magenis syndrome (SMS): clinical and behavioral characteristics in a large retrospective cohort

scientific article published on 27 December 2020

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

scientific article

Spectrum of epilepsy in terminal 1p36 deletion syndrome

scientific article published on 21 November 2007

Tests génétiques et médecine prédictive : quels enjeux ?

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

scientific article published on 10 December 2018

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

scientific article

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

scientific article published on 25 October 2018

The three stages of epilepsy in patients with CDKL5 mutations

scientific article

Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene

scientific article published on 15 January 2020

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

scientific article published on 11 February 2019

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

scientific article published on 19 November 2014

ZDHHC8 single nucleotide polymorphism rs175174 is not associated with psychiatric features of the 22q11 deletion syndrome or schizophrenia.

scientific article

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

scientific article published on 17 May 2013

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