List of works - Sarah Vergult

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

scientific article published on 14 December 2011

A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features

scientific article published on 2 November 2013

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

scientific article published on 01 March 2019

Array comparative genomic hybridization in male infertility

scientific article

CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells

scientific article published on 30 November 2017

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

scientific article published on 20 September 2012

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms

scientific article published on 15 June 2012

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

scientific article published on 17 September 2018

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

scientific article published on 17 January 2013

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

scientific article published on 01 November 2020

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

scientific article

Genomic and functional overlap between somatic and germline chromosomal rearrangements

scientific article published on 11 December 2014

Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene

article

Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas

scientific article

Identification of long non-coding RNAs involved in neuronal development and intellectual disability

scientific article published on 20 June 2016

Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines

scientific article

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory

scientific article published on 13 May 2016

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

scientific article

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

scientific article published on 09 October 2013

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

scientific article published in May 2014

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

scientific article

Nasal speech in patients with 12q15 microdeletions.

scientific article

New insights into the phenotype of FARS2 deficiency

scientific article published on 12 October 2017

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

scientific article published on 19 December 2020

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

scientific article published on 18 September 2014

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.

scientific article

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

The need for transparency and good practices in the qPCR literature.

scientific article published in November 2013

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

scientific article published in February 2015

ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation

scientific article

List of works by Sarah Vergult

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

Array comparative genomic hybridization in male infertility

CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Genomic and functional overlap between somatic and germline chromosomal rearrangements

Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene

Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas

Identification of long non-coding RNAs involved in neuronal development and intellectual disability

Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Nasal speech in patients with 12q15 microdeletions.

New insights into the phenotype of FARS2 deficiency

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

The need for transparency and good practices in the qPCR literature.

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation