List of works - Séverine Drunat

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features

scientific article published on 19 January 2013

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

scientific article

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

article

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

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

scientific article published on 11 July 2011

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

article

A novel RAB33B mutation in Smith-McCort dysplasia

scientific article

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

scientific article published on 27 July 2016

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

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

scientific article

Angelman syndrome and isovaleric acidemia: What is the link?

scientific article

Assessment of chimerism and immunomodulation to prevent post-transplantation relapse in childhood acute myeloblastic leukemia: is it the right approach?

scientific article published on 06 February 2020

Autosomal recessive primary microcephaly due to ASPM mutations: An update

scientific article

Baraitser-Winter Cerebrofrontofacial Syndrome

scientific article published on 20 November 2015

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

scientific article

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

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

scientific article published on 03 February 2020

Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption

scientific article published on 19 June 2020

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

scientific article

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

scientific article published on 01 April 2019

Clinico-radiological and genetic features of a common neuro-ichthyotic syndrome

scientific article published on 24 December 2014

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

scientific article published on 31 December 2016

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways

scientific article published on 07 November 2019

Down-syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome

scientific article published on 7 December 2017

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

scientific article published on 12 November 2013

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

scientific article published on 4 February 2015

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

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

scientific article published on 07 March 2019

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

scientific article published on 01 July 2019

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

scientific article published on 15 May 2013

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

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

scientific article

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

scientific article

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

scientific article published on 11 January 2012

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

scientific article published in March 2002

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

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

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

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

scientific article published on 5 November 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

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

scientific article published on 22 May 2013

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

Microvillous atrophy: atypical presentations

scientific article published in December 2014

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

scientific article

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

scientific article published in June 2017

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

scientific article

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

scientific article

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

scientific article published in June 2008

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

scientific article

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

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes ⬇️

journal article from 'European Journal of Medical Genetics' published in 2018

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly

scientific article published on 25 April 2017

Pre- and postnatal phenotype of 6p25 deletions involving theFOXC1gene

article

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

scientific article published on 25 February 2015

Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.

scientific article

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

scientific article

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

scientific article published on November 2016

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

scientific article published on 14 June 2019

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

scientific article published on October 2017

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

scientific article

Zygosity and chorionicity in triplet pregnancies: new data

scientific article

List of works by Séverine Drunat

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features

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

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

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

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

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

A novel RAB33B mutation in Smith-McCort dysplasia

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

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

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

Angelman syndrome and isovaleric acidemia: What is the link?

Assessment of chimerism and immunomodulation to prevent post-transplantation relapse in childhood acute myeloblastic leukemia: is it the right approach?

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Baraitser-Winter Cerebrofrontofacial Syndrome

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

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.

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption

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

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

Clinico-radiological and genetic features of a common neuro-ichthyotic syndrome

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

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways

Down-syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome

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

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

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

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

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

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

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

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

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

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

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

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

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

Homocysteine is the only plasma thiol associated with carotid artery remodeling

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

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

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

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

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

Microvillous atrophy: atypical presentations

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

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

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

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

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

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

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes ⬇️

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly

Pre- and postnatal phenotype of 6p25 deletions involving theFOXC1gene

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

Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.

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

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

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

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

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

Zygosity and chorionicity in triplet pregnancies: new data