Anne‐Claude Tabet
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View article: Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability Open
Protein arginine methyltransferase 9 (PRMT9) is part of the PRMT family, and it is suspected to function in pathways relevant to neurodevelopment. It is thought to participate in alternative splicing through interactions with the splicing …
View article: A Genetic Bridge Between Medicine and Neurodiversity for Autism
A Genetic Bridge Between Medicine and Neurodiversity for Autism Open
Autism represents a large spectrum of diverse individuals with varying underlying genetic architectures and needs. For some individuals, a single de novo or ultrarare genetic variant has a large effect on the intensity of specific dimensio…
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: The different clinical facets of SYN1-related neurodevelopmental disorders
The different clinical facets of SYN1-related neurodevelopmental disorders Open
Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic SYN1 variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males. In this study, we exp…
View article: 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients Open
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chr…
View article: Delineation of the clinical profile of <scp><i>CNOT2</i></scp> haploinsufficiency and overview of the <scp>IDNADFS</scp> phenotype
Delineation of the clinical profile of <span><i>CNOT2</i></span> haploinsufficiency and overview of the <span>IDNADFS</span> phenotype Open
CNOT2 haploinsufficiency underlies a rare neurodevelopmental disorder named Intellectual Developmental disorder with NAsal speech, Dysmorphic Facies, and variable Skeletal anomalies (IDNADFS, OMIM 618608). The condition clinically overlaps…
View article: 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 15 new cases and a literature review
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 15 new cases and a literature review Open
Microduplications involving the MYT1L gene have mostly been described in series of patients with isolated schizophrenia. However, few reports have been published, and the phenotype has still not been well characterized. We sought to furthe…
View article: <scp>EPHA7</scp> haploinsufficiency is associated with a neurodevelopmental disorder
<span>EPHA7</span> haploinsufficiency is associated with a neurodevelopmental disorder Open
Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for members of the Eph…
View article: The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2) Open
Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited number of cases, extensive phenotype analyses of these patients have not been pe…
View article: Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans Open
Hirschsprung disease (HSCR) is the most frequent developmental anomaly of the enteric nervous system, with an incidence of 1 in 5000 live births. Chronic intestinal pseudo-obstruction (CIPO) is less frequent and classified as neurogenic or…
View article: Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility
Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility Open
Dicentric chromosomes are a relevant marker of chromosomal instability. Their appearance is associated with telomere dysfunction, leading to cancer progression and a poor clinical outcome. Here, we present Telomere and Centromere staining …
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: 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…
View article: A framework to identify contributing genes in patients with Phelan-McDermid syndrome
A framework to identify contributing genes in patients with Phelan-McDermid syndrome Open
Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed speech, and autism spectrum disorders (ASD). It results fro…
View article: A framework to identify modifier genes in patients with Phelan-McDermid syndrome
A framework to identify modifier genes in patients with Phelan-McDermid syndrome Open
Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees of severity, including intellectual disability, speech impairment, and autism spectrum disorders (ASD). It results from a deletion…