Laurence Faivre
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View article: The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder Open
View article: PERIGENOMED-CLINICS 1—the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France
PERIGENOMED-CLINICS 1—the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France Open
Introduction International pilot projects focusing on next-generation sequencing in newborn screening (NBS), that is, genomic NBS (gNBS), have been established thanks to continuous therapeutic progress and the massive development of new ge…
View article: Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies Open
Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, previously overlooked role for noncoding sn…
View article: Cyclic vomiting and digestive symptoms in White–Sutton syndrome: a participatory study
Cyclic vomiting and digestive symptoms in White–Sutton syndrome: a participatory study Open
Background White–Sutton syndrome is a neurodevelopmental condition with a high prevalence of gastrointestinal disorders (89%), including cyclic vomiting (21–37.5%). Our objective was to better characterize repeated vomiting, cyclic vomitin…
View article: Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape
Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape Open
Severe loss of function variants in the splicing regulatory protein RBM10 are known to cause TARP syndrome, a rare X-linked recessive congenital syndrome. In recent years, individuals with milder phenotypes have been published, suggesting …
View article: An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome Open
View article: The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS
The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS Open
Objective Following the first French multicenter pilot study (AnDDI‐Prenatome) focused on the implementation of prenatal exome sequencing (pES), this ancillary study aims to explore the ethical and clinical issues raised by pES within mult…
View article: Determinants of fatigue in patients with Marfan syndrome: a study using PROMS
Determinants of fatigue in patients with Marfan syndrome: a study using PROMS Open
View article: <i>De novo</i>variants of<i>NALCN</i>differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current
<i>De novo</i>variants of<i>NALCN</i>differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current Open
The Na + leak channel NALCN regulates the resting membrane potential and consequently cell excitability of several cell types, including neurons. Studies of animal models demonstrated that NALCN is involved in fundamental physiological fun…
View article: Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Open
The major spliceosome contains five small nuclear RNAs (snRNAs; U1, U2, U4, U5 and U6) essential for splicing. Variants in RNU4-2, encoding U4, cause a neurodevelopmental disorder called ReNU syndrome. We investigated de novo variants in 5…
View article: First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes
First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes Open
Background Multiple molecular diagnoses (MMD) involve distinct or overlapping phenotypes. They are not so rare in the field of congenital anomalies, given an overall 3.5%–8% rate. Mainly, MMD imply distinct genotypes. Exceptionally, genoty…
View article: Abnormal <scp>DNA</scp> Methylation Profile Suggests the Extension of the Clinical Spectrum of the <scp><i>SETD2</i></scp>‐Related Disorders to a Syndromic Multiple Tumor Phenotype
Abnormal <span>DNA</span> Methylation Profile Suggests the Extension of the Clinical Spectrum of the <span><i>SETD2</i></span>‐Related Disorders to a Syndromic Multiple Tumor Phenotype Open
SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders ( SETD2 ‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly,…
View article: Further phenotypical delineation of DLG3-related neurodevelopmental disorders
Further phenotypical delineation of DLG3-related neurodevelopmental disorders Open
SAP102, a member of the membrane-associated guanylate kinase proteins family, is a scaffolding protein encoded by the DLG3 gene whose hemizygous variants with loss-of-function effect are associated with X-linked Intellectual developmental …
View article: A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome
A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome Open
View article: Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, <i>ATP9A</i>, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, <i>ATP9A</i>, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability Open
Intellectual disability is a neurodevelopmental disorder, affecting 2%–3% of the population, with a genetic cause in the majority of cases. ATP9A (Online Mendelian Inheritance in Man (OMIM) ∗ 609126, NM_006045.3) has recently been added to…
View article: A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol
A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol Open
Introduction The megalencephaly capillary malformation polymicrogyria (MCAP syndrome) results from mosaic gain-of-function PIK3CA variants. The main clinical features are macrocephaly, somatic overgrowth, neurodevelopmental delay and brain…
View article: BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations Open
An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed de…
View article: BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations Open
View article: Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder
Loss‐of‐Function Variants in <span><i>CUL3</i></span> Cause a Syndromic Neurodevelopmental Disorder Open
Objective De novo variants in cullin‐3 ubiquitin ligase ( CUL3 ) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed to collect sporadic cases carrying …
View article: Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors Open
View article: Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Genetic modifiers and ascertainment drive variable expressivity of complex disorders Open
SUMMARY Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants towards clinical outcomes of 2,252 individuals with primary vari…
View article: Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features Open
In 30-40% of fetuses with structural defects, the causal variant remains undiagnosed after karyotype, chromosomal microarray and exome sequencing. This study presents the results of a reanalysis of unsolved prenatal ES (pES) and investigat…
View article: <scp>SCYL2</scp> ‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?
<span>SCYL2</span> ‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond? Open
SCY1‐like protein 2 ( SCYL2 ) is a member of the SCY1‐like pseudokinase family which regulates secretory protein trafficking. It plays a crucial role in the nervous system by suppressing excitotoxicity in the developing brain. Scyl2 knocko…
View article: Des organoïdes cérébraux pour la compréhension et la thérapie des maladies génétiques rares avec troubles neurodéveloppementaux
Des organoïdes cérébraux pour la compréhension et la thérapie des maladies génétiques rares avec troubles neurodéveloppementaux Open
Les maladies génétiques associées à des troubles neurodéveloppementaux (TND) regroupent plusieurs maladies pour lesquelles peu de traitements sont proposés. L’impossibilité d’accéder à des échantillons de cerveaux humains pour des études e…
View article: Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity, leads to neurodevelopmental disorder and obesity.
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity, leads to neurodevelopmental disorder and obesity. Open
RNA-binding proteins play a key role in post-transcriptional events, such as mRNA splicing, transport, stability, translation and decay. Dysregulation of RNA life can have dramatic consequences. CELF RNA-binding proteins appear to be essen…
View article: Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A Open
Spastic paraplegia type 3A (SPG3A) is the second most common form of hereditary spastic paraplegia (HSP). This autosomal-dominant-inherited motor disorder is caused by heterozygous variants in the ATL1 gene which usually presents as a pure…
View article: Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients Open
Background Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha ( DNMT3A )-overgrowth syndrome (DOS), was first described by Tatton-Brown in 2014. This syndrome is characterised by overgrowth, intel…
View article: Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype
Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype Open
Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides‐Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disabi…
View article: Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective Open
Introduction Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by RLIM variations. Of the 41 patients reported, only 7 antenatal cases were described. Method After the antenatal diagnosis…
View article: Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study) Open