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View article: Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study Open
Prospectively registered with ClinicalTrials.gov under the identifier NCT04154891 (07/11/2019).
View article: Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech
Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech Open
View article: LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy
LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy Open
View article: Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions Open
Deletions of the long arm of chromosome 20 (20q) are rare, with only 16 reported patients displaying a proximal interstitial 20q deletion. A 1.62 Mb minimal critical region at 20q11.2, encompassing three genes GDF5 , EPB41L1 , and SAMHD1 ,…
View article: 3q29 duplications: A cohort of 46 patients and a literature review
3q29 duplications: A cohort of 46 patients and a literature review Open
Duplications of the 3q29 cytoband are rare chromosomal copy number variations (CNVs) (overlapping or recurrent ~1.6 Mb 3q29 duplications). They have been associated with highly variable neurodevelopmental disorders (NDDs) with various asso…
View article: A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia Open
View article: Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome) Open
Objective We aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data to broaden knowledge of antenatal features in these syndromes. Methods We retrospectively recruited unrelated cases w…
View article: Two novel variations p.(<scp>Ser1275Thr</scp>) and p.(<scp>Ser1275Arg</scp>) in <scp><i>FLT4</i></scp> causing prenatal hereditary lymphedema type 1
Two novel variations p.(<span>Ser1275Thr</span>) and p.(<span>Ser1275Arg</span>) in <span><i>FLT4</i></span> causing prenatal hereditary lymphedema type 1 Open
Background Hereditary lymphedema 1 is a rare congenital condition, characterized by the development of chronic swelling in body parts. It is highly variable in expression and age of onset with different presentations: from feet edema to hy…
View article: CNVscore calculates pathogenicity scores for copy number variants together with uncertainty estimates accounting for learning biases in reference Mendelian disorder datasets
CNVscore calculates pathogenicity scores for copy number variants together with uncertainty estimates accounting for learning biases in reference Mendelian disorder datasets Open
Copy number variants (CNVs) are a major cause of rare pediatric diseases with a broad spectrum of phenotypes. Genetic diagnosis based on comparative genomic hybridization tests typically identifies ∼8-10% of patients as having CNVs of unkn…
View article: 16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing Open
View article: Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype
Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype Open
All types of PAX6 variants, even those associated with mild iris defects, may be at risk for severe foveal hypoplasia with poor visual prognosis, except for deletions restricted to the 3' regulatory PAX6 regions.
View article: Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis
Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis Open
View article: CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients Open
Copy Number Variants (CNVs) are an important cause of rare diseases. Array-based Comparative Genomic Hybridization tests yield a ∼12% diagnostic rate, with ∼8% of patients presenting CNVs of unknown significance. CNVs interpretation is par…
View article: CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients Open
Copy Number Variants (CNVs) are an important cause of rare diseases. Array-based Comparative Genomic Hybridization tests yield a ∼12% diagnostic rate, with ∼8% of patients presenting CNVs of unknown significance. CNVs interpretation is par…
View article: Author response for "Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?"
Author response for "Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?" Open
View article: Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization
Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization Open
Background Structural variants (SVs) include copy number variants (CNVs) and apparently balanced chromosomal rearrangements (ABCRs). Genome sequencing (GS) enables SV detection at base‐pair resolution, but the use of short‐read sequencing …
View article: Vingt ans de consultations de génétique clinique sur site dans les hôpitaux de jour pour les personnes atteintes de troubles du spectre autistique de la région parisienne
Vingt ans de consultations de génétique clinique sur site dans les hôpitaux de jour pour les personnes atteintes de troubles du spectre autistique de la région parisienne Open
Malgré les avancées de la recherche, un grand nombre de patients atteints de troubles du spectre autistique (TSA) n’ont pas accès aux explorations aujourd’hui disponibles, du fait d’idées reçues, de l’insuffisance des structures à même de …
View article: Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder Open
View article: Significant contribution of intragenic deletions to ARID1B mutation spectrum
Significant contribution of intragenic deletions to ARID1B mutation spectrum Open
View article: Cost‐effectiveness of five prenatal screening strategies for trisomies and other unbalanced chromosomal abnormalities: model‐based analysis
Cost‐effectiveness of five prenatal screening strategies for trisomies and other unbalanced chromosomal abnormalities: model‐based analysis Open
Objective To evaluate the cost‐effectiveness of five prenatal screening strategies for trisomies (13/18/21) and other unbalanced chromosomal abnormalities (UBCA), following the introduction of cell‐free DNA (cfDNA) analysis. Methods A mode…
View article: SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite Open
The DNA methylation epigenetic signature is a key determinant during development. Rules governing its establishment and maintenance remain elusive especially at repetitive sequences, which account for the majority of methylated CGs. DNA me…
View article: Reply
Reply Open
We appreciate the opportunity to respond to the comments of Drs Xu and Li regarding our article1. With respect to their first question, the diagnosis of isolated increased nuchal translucency was based on the first-trimester scan. As this …
View article: Women’s Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome
Women’s Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome Open
Aversion to risk of fetal loss related to IT and aversion to ambiguity generated by incomplete information from NIPT played a major role in shaping attitudes and decision making. Informed decision making should require pregnant women at hi…
View article: Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders Open
Background Balanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-gen…
View article: Author Correction: 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype
Author Correction: 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype Open
View article: SMCHD1 is involved in<i>de novo</i>methylation of the<i>DUX4</i>-encoding D4Z4 macrosatellite
SMCHD1 is involved in<i>de novo</i>methylation of the<i>DUX4</i>-encoding D4Z4 macrosatellite Open
The DNA methylation epigenetic signature is a key determinant during development. Rules governing its establishment and maintenance remain elusive especially at repetitive sequences, which account for the majority of methylated CGs. DNA me…
View article: Additional file 1: of Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder
Additional file 1: of Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder Open
Table S1. List of 439 known intellectual disability/ASD genes or candidate genes tested by panel resequencing. (XLSX 196 kb)
View article: Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21
Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21 Open
ClinicalTrials.gov Identifier: NCT02127515.
View article: 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype
22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype Open
View article: Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features Open
The Xq28 duplication involving the MECP2 gene ( MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, on…