List of works - Marie Vincent

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

scientific article published on 28 November 2017

A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability

scientific article published on 22 November 2018

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

scientific article published on 6 March 2014

Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature

scientific article published on 08 April 2019

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

scientific article published on 06 February 2019

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

scientific article published on 01 November 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

scientific article published on 10 January 2019

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

scientific article published on 12 January 2021

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

scientific article published on 11 January 2016

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

scientific article published on 17 August 2016

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

scientific article published on 10 April 2018

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay

scientific article

Evolutionary conserved NSL complex/BRD4 axis controls transcription activation via histone acetylation

scientific article published on 07 May 2020

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

scientific article published on 04 July 2018

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

scientific article published on 27 February 2019

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

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development

scientific article published on 31 August 2018

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

scientific article published on 11 July 2016

Isolated and syndromic brachydactylies: Diagnostic value of hand X-rays

scientific article

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability

scientific article published on 22 May 2013

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

scientific article published on 22 August 2018

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

scientific article published on 2 February 2017

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features

scientific article published on 3 October 2017

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome

scientific article published on 22 August 2018

Patients with isolated oligo/hypodontia caused by RUNX2 duplication.

scientific article

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

scientific article published on 18 February 2020

Radiographic presentation of musculoskeletal involvement in Werner syndrome (adult progeria).

scientific article published on 5 December 2016

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

scientific article published on 7 September 2018

Rubinstein-Taybi Syndrome in a Fetus: Contribution of 2- and 3-Dimensional Ultrasonography.

scientific article published on 16 August 2017

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

scientific article published on 11 June 2019

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

scientific article published on 14 June 2017

Should the knowledge be imperative? The key challenge of high throughput genetics

scientific article published in November 2017

The clinical significance of small copy number variants in neurodevelopmental disorders

scientific article

Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.

scientific article published on 8 April 2016

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

scientific article published on 19 March 2015

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

scientific article published on 26 October 2016

List of works by Marie Vincent

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay

Evolutionary conserved NSL complex/BRD4 axis controls transcription activation via histone acetylation

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

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

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

Isolated and syndromic brachydactylies: Diagnostic value of hand X-rays

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

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

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome

Patients with isolated oligo/hypodontia caused by RUNX2 duplication.

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

Radiographic presentation of musculoskeletal involvement in Werner syndrome (adult progeria).

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Rubinstein-Taybi Syndrome in a Fetus: Contribution of 2- and 3-Dimensional Ultrasonography.

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

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Should the knowledge be imperative? The key challenge of high throughput genetics

The clinical significance of small copy number variants in neurodevelopmental disorders

Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy