List of works - Florence Petit

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients

scientific article published on 14 January 2015

21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

scientific article published on 20 November 2014

A clinical scoring system for congenital contractural arachnodactyly

scientific article published on 18 July 2019

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes

scientific article published on 01 March 2019

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

scientific article

Characteristics of tuberous sclerosis in children

scientific article published on 14 August 2010

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trials

scientific article published on 07 January 2021

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

scientific article published on 26 March 2014

Congenital heart defects in patients with deletions upstream of SOX9.

scientific article published on 18 October 2013

Crane-Heise syndrome: two further case reports

scientific article published on 20 November 2010

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

scientific article published on 31 January 2020

De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia

scientific article published on 06 July 2020

Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia

scientific article published on 16 April 2021

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

scientific article

Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.

scientific article published on 11 October 2012

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

scientific article published on 08 January 2019

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

scientific article published on December 2012

ELN gene triplication responsible for familial supravalvular aortic aneurysm

article

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.

scientific article published on 16 October 2013

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

scientific article published on 14 February 2020

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

scientific article published on 12 January 2013

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

scientific article published on 14 December 2018

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

scientific article published on 31 July 2019

Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.

scientific article published in January 2011

Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.

scientific article published on 10 November 2014

Limb overgrowth associated with a mosaic TSC2 second-hit in tuberous sclerosis complex

scientific article published on 17 August 2020

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

scientific article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage

scientific article published on 13 January 2010

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

scientific article published on 2 February 2017

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations

scientific article published on 23 September 2019

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

scientific article

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

scientific article

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

scientific article published on 12 September 2013

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.

scientific article published on 22 April 2015

Next-Generation Sequencing in a Series of 80 Fetuses with Complex Cardiac Malformations and/or Heterotaxy

scientific article published on 01 November 2020

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

scientific article published on 05 July 2019

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

scientific article published on 18 May 2022

Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.

scientific article

Pathogenesis of congenital diaphragmatic hernia: additional clues regarding the involvement of the endothelin system

scientific article published on 21 November 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

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.

scientific article published on 15 July 2013

Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis

scientific article published on 30 November 2012

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

scientific article published on 30 March 2020

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

scientific article

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification

scientific article published on 12 August 2020

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

scientific article published on 18 March 2015

Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome

scientific article published on 19 January 2011

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature

scientific article published on 03 May 2019

Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia

scientific article published on 14 July 2011

[Myoclonic astatic seizures in a child with Sturge-Weber syndrome]

scientific article published on 13 May 2008

[Possible responsibility of EDNRA gene triplication, coding for the endothelin 1 ET-A receptor in a case of congenital diaphragmatic hernia]

scientific article published on 17 May 2014

List of works by Florence Petit

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients

21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

A clinical scoring system for congenital contractural arachnodactyly

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

Characteristics of tuberous sclerosis in children

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trials

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

Congenital heart defects in patients with deletions upstream of SOX9.

Crane-Heise syndrome: two further case reports

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia

Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

ELN gene triplication responsible for familial supravalvular aortic aneurysm

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.

Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.

Limb overgrowth associated with a mosaic TSC2 second-hit in tuberous sclerosis complex

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.

Next-Generation Sequencing in a Series of 80 Fetuses with Complex Cardiac Malformations and/or Heterotaxy

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.

Pathogenesis of congenital diaphragmatic hernia: additional clues regarding the involvement of the endothelin system

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

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.

Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature

Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia

[Myoclonic astatic seizures in a child with Sturge-Weber syndrome]

[Possible responsibility of EDNRA gene triplication, coding for the endothelin 1 ET-A receptor in a case of congenital diaphragmatic hernia]