List of works - Alice Masurel-Paulet

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

scientific article

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations

scientific article published on 04 October 2018

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.

scientific article published on 30 March 2011

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

scientific article

A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome

scientific article published on 03 June 2016

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

scientific article published on 20 December 2016

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

scientific article

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

scientific article

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

scientific article published on 2 November 2017

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

scientific article published on 8 March 2017

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

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

scientific article

Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

scientific article

Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability

scientific article

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis

scientific article published on 25 March 2014

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

scientific article published on 30 March 2014

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

scientific article published on February 2009

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

scientific article published on 21 October 2015

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

scientific article published on 01 October 2010

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

scientific article published in July 2009

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

scientific article

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

scientific article published on 27 November 2017

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

scientific article published on 11 August 2017

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

scientific article published on 24 January 2017

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in theOFD1gene

article

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

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

scientific article published on 12 May 2020

Severe X-linked chondrodysplasia punctata in nine new female fetuses

scientific article published on 30 March 2015

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene

scientific article published on 01 February 2008

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

scientific article published on 25 October 2012

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

scientific article published on 26 September 2016

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

scientific article published on 17 February 2011

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

List of works by Alice Masurel-Paulet

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

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

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

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

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

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

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in theOFD1gene

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

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

Severe X-linked chondrodysplasia punctata in nine new female fetuses

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

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