List of works - Séverine Drunat

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

scientific article

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

scientific article

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].

scientific article

Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family

scientific article published in March 2002

Breakpoint-specific multiplex polymerase chain reaction allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphoblastic leukemia.

scientific article published on 12 October 2012

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases

scientific article published on 12 November 2013

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

scientific article

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

scientific article

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

scientific article

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

scientific article published on 15 May 2013

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series

scientific article published on 28 October 2009

Zygosity and chorionicity in triplet pregnancies: new data

scientific article

A novel RAB33B mutation in Smith-McCort dysplasia

scientific article

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients

scientific article published on November 2016

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

scientific article

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

scientific article published on 27 July 2016

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients

scientific article

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

scientific article

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies

scientific article published on 11 January 2012

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome

scientific article published in January 2010

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

scientific article published on 31 October 2015

Pre- and postnatal phenotype of 6p25 deletions involving theFOXC1gene

article

Autosomal recessive primary microcephaly due to ASPM mutations: An update

scientific article

Homocysteine decreases endothelin-1 expression by interfering with the AP-1 signaling pathway

scientific article published on September 2002

Homocysteine is the only plasma thiol associated with carotid artery remodeling

scientific article

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

scientific article published on 25 February 2015

Follow-up of post-transplant minimal residual disease and chimerism in childhood lymphoblastic leukaemia: 90 d to react.

scientific article published on 19 December 2014

Microvillous atrophy: atypical presentations

scientific article published in December 2014

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

scientific article published on 22 May 2013

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

scientific article

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

scientific article published on 5 November 2014

Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome

scientific article

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

scientific article published on 30 September 2015

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

scientific article published on 07 March 2019

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

scientific article published on 4 February 2015

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

scientific article published on 01 September 2011

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

scientific article published on 01 July 2008

Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections

scientific article published in June 2008

High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters

scientific article

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern

article

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

scientific article published in June 2017

A long-term competent chimeric immune system in a dizygotic dichorionic twin

scientific article published on 11 July 2011

Clinico-Radiological and Genetic Features of a Common Neuro-Ichthyotic Syndrome

scientific article published on December 24, 2014

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

scientific article published on 2 September 2015

DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype

scientific article published on 31 December 2016

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

scientific article published on October 2017

Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy

scientific article published on 01 April 2019

Angelman syndrome and isovaleric acidemia: What is the link?

scientific article

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly

scientific article published on 25 April 2017

Zygosity and chorionicity in the prognosis of triplet pregnancies: contribution of microsatellites

scientific article

List of works by Séverine Drunat

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

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].

Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family

Breakpoint-specific multiplex polymerase chain reaction allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphoblastic leukemia.

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series

Zygosity and chorionicity in triplet pregnancies: new data

A novel RAB33B mutation in Smith-McCort dysplasia

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients

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

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

Pre- and postnatal phenotype of 6p25 deletions involving theFOXC1gene

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Homocysteine decreases endothelin-1 expression by interfering with the AP-1 signaling pathway

Homocysteine is the only plasma thiol associated with carotid artery remodeling

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

Follow-up of post-transplant minimal residual disease and chimerism in childhood lymphoblastic leukaemia: 90 d to react.

Microvillous atrophy: atypical presentations

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

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

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections

High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

A long-term competent chimeric immune system in a dizygotic dichorionic twin

Clinico-Radiological and Genetic Features of a Common Neuro-Ichthyotic Syndrome

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy

Angelman syndrome and isovaleric acidemia: What is the link?

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly

Zygosity and chorionicity in the prognosis of triplet pregnancies: contribution of microsatellites