V. Malan

发表

Women’s Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome

L. Bussières, L. Salomon, M. Vekemans, 2019, JAMA network open.

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

J. Steffann, M. Vekemans, L. Colleaux, 2016, Clinical genetics.

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

S. Julia, R. Touraine, A. Afenjar, 2016, American journal of medical genetics. Part A.

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

E. Bourel-ponchel, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.

17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis

Y. Ville, C. Garel, M. Vekemans, 2014, Cytogenetic and Genome Research.

[Managing and identifying the causes of IUGR].

L. Salomon, V. Malan, Malan, 2013, Journal de gynecologie, obstetrique et biologie de la reproduction.

Cost‐effectiveness of five prenatal screening strategies for trisomies and other unbalanced chromosomal abnormalities: model‐based analysis

Y. Ville, I. Durand-zaleski, C. Elie, 2019, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene

A. Ishida-Yamamoto, A. Hovnanian, M. Honma, 2014, Experimental dermatology.

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

D. Sillence, A. Munnich, J. Melki, 2009, European Journal of Human Genetics.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

A. Munnich, I. Simonic, S. Mehta, 2012, Journal of Medical Genetics.

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.

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

M. Vekemans, J. Martinovic, T. Attié-Bitach, 2006, Prenatal diagnosis.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

M. Holder-Espinasse, A. Verloes, M. Carella, 2014, European Journal of Human Genetics.

CNVscore calculates pathogenicity scores for copy number variants together with uncertainty estimates accounting for learning biases in reference Mendelian disorder datasets.

C. Béroud, D. Salgado, A. Rausell, 2022, medRxiv.

Chimera and other fertilization errors

M. Vekemans, C. Turleau, V. Malan, 2006, Clinical genetics.

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

L. Faivre, H. Dollfus, P. Jonveaux, 2010, Journal of Medical Genetics.

Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study

L. Salomon, C. Bénéteau, M. Vekemans, 2018, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

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

A. Munnich, N. Boddaert, H. Esch, 2012, European Journal of Human Genetics.

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals

V. Cormier-Daire, T. Attié-Bitach, C. Huber, 2022, Journal of Medical Genetics.

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

A. Munnich, R. Salomon, B. Estournet, 2013, Journal of Medical Genetics.

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

J. Oury, L. Bussières, L. Salomon, 2015, Prenatal diagnosis.

Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.

Y. Ville, J. Bernard, M. Vekemans, 2017, Birth defects research.

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

Y. Ville, J. Bernard, M. Vekemans, 2013, European journal of medical genetics.

Significant contribution of intragenic deletions to ARID1B mutation spectrum

A. Afenjar, N. Philip, V. Cormier-Daire, 2019, Genetics in Medicine.

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

L. Vissers, S. Cheung, J. Veltman, 2012, Nature Genetics.

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

B. Menten, Z. Tümer, J. Thevenon, 2013, Journal of Medical Genetics.

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

F. Escande, M. Vekemans, E. Bieth, 2013, American journal of medical genetics. Part A.

High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymes.

M. Ziol, V. Bourcier, D. Roulot, 2014, The Journal of clinical endocrinology and metabolism.

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

Y. Ville, P. Sonigo, M. Vekemans, 2017, Cytogenetic and Genome Research.

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

L. Salomon, C. Rooryck, C. Bénéteau, 2019, Prenatal diagnosis.

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

M. Portnoï, N. Gruchy, V. Malan, 2005, American journal of medical genetics. Part A.

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

A. Munnich, N. Philip, A. Verloes, 2011, European Journal of Human Genetics.

Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients

A. Munnich, N. Baena, A. Verloes, 2014, Human mutation.

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

Y. Ville, S. Romana, M. Vekemans, 2016, American journal of medical genetics. Part A.

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

F. Jaubert, V. Malan, G. Verkauskas, 2007, The Journal of urology.

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

A. Benachi, M. Vekemans, J. Bonnefont, 2007, Human reproduction.

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.

J. Wolf, B. Benzacken, E. Pipiras, 2006, Human reproduction.

Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3)

B. Devauchelle, F. Vialard, M. Portnoï, 2004, American journal of medical genetics. Part A.

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

A. Munnich, A. Molven, O. Bruland, 2011, Journal of Medical Genetics.

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.

F. Vialard, M. Portnoï, J. Selva, 2006, Fertility and sterility.

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

P. Sonigo, L. Salomon, C. Bénéteau, 2021, Prenatal diagnosis.

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.

Nathalie Boddaert, Arnold Munnich, Richard Redon, 2007, American journal of human genetics.

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

J. Casanova, L. Abel, A. Gessain, 2017, American journal of medical genetics. Part A.

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

Y. Ville, V. Tsatsaris, F. Encha-Razavi, 2019, Prenatal diagnosis.

Mutations in SETD2 cause a novel overgrowth condition

R. Touraine, E. Pasmant, M. Vidaud, 2014, Journal of Medical Genetics.

Matthew‐Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

C. Fallet-Bianco, A. Benachi, M. Vekemans, 2007, American journal of medical genetics. Part A.

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

A. Toutain, A. Verloes, L. Pasquier, 2015, American journal of medical genetics. Part A.

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

M. Lemaître, L. Vallée, B. Gilbert-Dussardier, 2015, European journal of medical genetics.

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome

M. Bourgeois, R. Nabbout, A. Kaminska, 2021, Clinical Neurophysiology.

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

C Turleau, L Colleaux, M Vekemans, 2009, Journal of Medical Genetics.

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

C. Garel, J. Andrieux, B. Delobel, 2021, Clinical genetics.

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing

A. Hastie, C. Bole-Feysot, P. Nitschké, 2022, European Journal of Human Genetics.

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

R. Touraine, A. Afenjar, A. Toutain, 2019, Journal of Medical Genetics.

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

Y. Ville, L. Salomon, J. Bernard, 2016, Cytogenetic and Genome Research.

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

S. Romana, V. Malan, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

Patrick Callier, Antonio Vitobello, Yannis Duffourd, 2020, Molecular genetics & genomic medicine.

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome

A. Afenjar, V. Drouin‐Garraud, T. Frebourg, 2007, Human mutation.

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

M. Vekemans, B. Aral, F. Encha-Razavi, 2008, Prenatal diagnosis.

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

N. Spinner, L. Gaunt, Yiping Shen, 2010, European journal of medical genetics.

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

C. Flamant, L. Salomon, V. Tsatsaris, 2015, European journal of obstetrics, gynecology, and reproductive biology.

Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial

J. Jais, Y. Ville, C. Elie, 2018, JAMA.

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

Shifeng Xue, F. Magdinier, B. Wollnik, 2019, Nucleic acids research.

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

J. Alessandri, D. Ramful, V. Malan, 2014, American journal of medical genetics. Part A.

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.

N. Boddaert, D. Vidaud, S. Lyonnet, 2013, Clinical dysmorphology.

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

R Pfundt, L Colleaux, N. de Leeuw, 2011, Journal of Medical Genetics.

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

N. Carter, A. Munnich, R. Hennekam, 2010, American journal of human genetics.

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

J. Clayton-Smith, P. Jouk, J. Thevenon, 2016, Genetics in Medicine.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients

P. Nitschké, A. Rausell, V. Malan, 2021, medRxiv.

Efficiency of prenatal diagnosis in Pierre Robin sequence

L. Salomon, S. Lyonnet, J. Amiel, 2017, Prenatal diagnosis.

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

F. Terro, C. Yardin, S. Romana, 2008, Prenatal diagnosis.

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

J. Lupski, S. Cheung, A. Munnich, 2015, American journal of human genetics.

Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes

A. Battaglia, M. Spielmann, F. Garaci, 2019, Clinical genetics.

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

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

R. Salomon, C. Antignac, S. Saunier, 2017, Journal of the American Society of Nephrology : JASN.

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

N. Boddaert, L. Robel, A. Philippe, 2015, BMC Psychiatry.

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

J. Amiel, Y. Boudjemline, D. Bonnet, 2013, Cardiology in the Young.

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

A. Munnich, C. Picard, N. Boddaert, 2009, Human mutation.

22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype

A. Munnich, C. Barthélémy, S. Roux, 2018, Translational Psychiatry.

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

C. Bénéteau, F. Vialard, M. Till, 2019, Prenatal diagnosis.

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

C. Bole-Feysot, P. Nitschké, M. Vekemans, 2018, European Journal of Human Genetics.

Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia

C. Delacourt, S. Lyonnet, S. Sarnacki, 2022, American journal of medical genetics. Part A.

Clinical and neuroradiological features of the 9p deletion syndrome

F. Brunelle, F. Di Rocco, É. Arnaud, 2016, Child's Nervous System.

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

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

Shifeng Xue, F. Magdinier, Christopher, 2019, Nucleic acids research.

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

A. Munnich, A. Bernheim, M. Vekemans, 2013, Clinical genetics.

Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis.

P. Landrieu, M. Rio, E. Jacquemin, 2010, Journal of pediatric gastroenterology and nutrition.

Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis

M. Mearin, N. Cerf-Bensussan, J. Nowak, 2021, Mucosal Immunology.

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

A. Munnich, A. Toutain, M. Vekemans, 2010, European Journal of Human Genetics.

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

A. Munnich, J. Soulier, D. Lacombe, 2010, European Journal of Human Genetics.

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

A. Munnich, N. Boddaert, S. Hanein, 2019, Molecular Autism.

Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene

A. Munnich, M. Vekemans, M. Prieur, 2007, Clinical genetics.

Feasibility and Added Value of Fetal DTI Tractography in the Evaluation of an Isolated Short Corpus Callosum: Preliminary Results

N. Boddaert, P. Sonigo, I. Desguerre, 2021, American Journal of Neuroradiology.

Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood

A. Munnich, M. Zilbovicius, N. Boddaert, 2008, Pediatrics.

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

Y. Ville, P. Sonigo, M. Vekemans, 2016, Birth defects research. Part A, Clinical and molecular teratology.

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

A. Munnich, A. Rötig, C. Bole-Feysot, 2012, Molecular genetics and metabolism.

Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1

J. Nectoux, J. Dupont, J. Amiel, 2022, Birth defects research.

V. Malan, M. Egloff, 2019, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017 .

Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders

S. Amselem, L. Faivre, B. Copin, 2014, Arthritis & rheumatology.

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

S. Julia, C. Rooryck, F. Vialard, 2023, Prenatal diagnosis.

Foveal hypoplasia grading in 95 cases of congenital aniridia: correlation to phenotype and PAX6 genotype.

S. Valleix, D. Bremond-Gignac, A. Daruich, 2021, American journal of ophthalmology.

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

A. Munnich, N. Boddaert, L. Colleaux, 2013, American Journal of Medical Genetics. Part A.

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia

A. Munnich, N. Boddaert, C. Bole-Feysot, 2023, BMC Medical Genomics.