List of works - Valérie Malan

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients

scientific article published on 14 January 2015

17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis

scientific article published on 15 November 2014

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation

scientific article published on 6 January 2009

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes

scientific article published in August 2005

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

scientific article

A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test

scientific article published on 7 January 2016

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

scientific article published on 29 October 2008

A new case of a severe clinical phenotype of the cat-eye syndrome.

scientific article

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

scientific article

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

scientific article published on 17 December 2011

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

scientific article published in 2023

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

scientific article

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

scientific article published on February 2013

Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders

scientific article published on September 2014

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.

scientific article published on 21 October 2015

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

scientific article published on 29 April 2019

Chromosome segregation in an infertile man carrying a unique pericentric inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization on sperm nuclei: significance for clinical genetics. A case report

article

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review

scientific article published on 2 April 2015

Clinical and neuroradiological features of the 9p deletion syndrome

scientific article published on 23 November 2015

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

scientific article

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromes

article

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

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

scientific article

Diagnosis of chromosomal abnormalities by array CGH in constitutional pathology: the end of the first-line karyotype ⬇️

scientific article published on February 17, 2012

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

scientific article

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

scientific article

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

scientific article

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

scientific article published on December 2012

FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease

article

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

scientific article

Fetal growth restriction and intra-uterine growth restriction: guidelines for clinical practice from the French College of Gynaecologists and Obstetricians

scientific article published on 2 July 2015

First fetal case of the 8q24.3 contiguous genes syndrome

article

First prenatally diagnosed case of 16p11.2p12.1 duplication

article

Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands

scientific article

Functional disomy of Xp including duplication ofDAX1gene with sex reversal due to t(X;Y)(p21.2;p11.3)

article

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

scientific article

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

article

Heterozygous FIC1 Deficiency: A New Genetic Predisposition to Transient Neonatal Cholestasis

scientific article published on 01 April 2010

High Frequency of X Chromosome Abnormalities in Women With Short Stature and Elevated Liver Enzymes

scientific article published on 14 April 2014

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

scientific article published on 5 November 2014

Inflammatory peeling skin syndrome caused by homozygous genomic deletion in thePSORS1region encompassing theCDSNgene

article published in 2013

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

scientific article published on 02 February 2010

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

scientific article

Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication

scientific article published on 9 March 2017

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

Les tests d’ADN libre circulant pour le dépistage de la trisomie 21 fœtale

article published in 2016

Managing and identifying the causes of IUGR

scientific article

Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.

scientific article

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

scientific article

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion ofFGF10 andFGFR2

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

scientific article

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.

scientific article published on December 2016

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

scientific article

Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid

scientific article

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

scientific article published on 4 November 2012

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

scientific article (publication date: April 2009)

Mutations in SETD2 cause a novel overgrowth condition

scientific article published on 22 May 2014

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

scientific article

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

scientific article published on 29 April 2012

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

scientific article published on 18 July 2012

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

scientific article

Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasma

scientific article published in May 2015

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

scientific article

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

article

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.

scientific article published in February 2007

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

scientific article published in January 2008

Prenatal findings in 1p36 deletion syndrome: New cases and a literature review

scientific article published on 05 July 2019

SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects

scientific article published on 09 August 2019

Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene

scientific article published on 27 November 2007

Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009.

scientific article published in January 2013

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series

scientific article published on 11 December 2021

The diagnostic yield of chromosomal microarray analysis in fetuses with increased nuchal translucency: a French multicentre retrospective study.

scientific article

The long-term followup of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery.

scientific article

Whole-arm translocations between chromosome 1 and acrocentric G chromosomes are associated with a poor prognosis for spermatogenesis: two new cases and review of the literature

scientific article published on October 2006

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

scientific article published on 11 February 2015

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance

scientific article

List of works by Valérie Malan

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients

17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes

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

A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

A new case of a severe clinical phenotype of the cat-eye syndrome.

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

Chromosome segregation in an infertile man carrying a unique pericentric inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization on sperm nuclei: significance for clinical genetics. A case report

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review

Clinical and neuroradiological features of the 9p deletion syndrome

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromes

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

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

Diagnosis of chromosomal abnormalities by array CGH in constitutional pathology: the end of the first-line karyotype ⬇️

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Fetal growth restriction and intra-uterine growth restriction: guidelines for clinical practice from the French College of Gynaecologists and Obstetricians

First fetal case of the 8q24.3 contiguous genes syndrome

First prenatally diagnosed case of 16p11.2p12.1 duplication

Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands

Functional disomy of Xp including duplication ofDAX1gene with sex reversal due to t(X;Y)(p21.2;p11.3)

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

Heterozygous FIC1 Deficiency: A New Genetic Predisposition to Transient Neonatal Cholestasis

High Frequency of X Chromosome Abnormalities in Women With Short Stature and Elevated Liver Enzymes

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

Inflammatory peeling skin syndrome caused by homozygous genomic deletion in thePSORS1region encompassing theCDSNgene

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication

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

Les tests d’ADN libre circulant pour le dépistage de la trisomie 21 fœtale

Managing and identifying the causes of IUGR

Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion ofFGF10 andFGFR2

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Mutations in SETD2 cause a novel overgrowth condition

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasma

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

Prenatal findings in 1p36 deletion syndrome: New cases and a literature review

SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects

Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene

Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009.

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series

The diagnostic yield of chromosomal microarray analysis in fetuses with increased nuchal translucency: a French multicentre retrospective study.

The long-term followup of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery.

Whole-arm translocations between chromosome 1 and acrocentric G chromosomes are associated with a poor prognosis for spermatogenesis: two new cases and review of the literature

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance