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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: A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B Open
Syndromic cardiac malformations can result in morbidity, yet their genetic etiology is only understood for a subset of individuals. Genome sequencing efforts in congenital anomaly cohorts may identify disease-associated variants in previou…
View article: Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants
Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants Open
Background Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders. NF1 is caused by dominant loss-of-function pathogenic variants (PVs) of the tumour-suppressor gene NF1 , which encodes neurofibromin, a negative regul…
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: Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures
Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures Open
De novo heterozygous variants in the CELF2 gene have recently been associated with a rare neurodevelopmental disorder. However, the mechanisms linking specific variants to distinct clinical phenotypes remain poorly understood. Here, we rep…
View article: Somatic PIK3R1 mutations in the iSH2 domain are accessible to PI3Kα inhibition
Somatic PIK3R1 mutations in the iSH2 domain are accessible to PI3Kα inhibition Open
Mutations in PIK3R1 have recently been identified in patients with overgrowth syndromes and complex vascular malformations. PIK3R1 encodes p85α which acts as the regulatory subunit of the lipid kinase PI3Kα. PIK3R1 mutations result in the …
View article: Expanding the TUBB3‐Related Phenotypic Landscape: Fetal Diagnosis of Novel TUBB3 Variant Linked With Phenotypic Variability Within a Single Family
Expanding the TUBB3‐Related Phenotypic Landscape: Fetal Diagnosis of Novel TUBB3 Variant Linked With Phenotypic Variability Within a Single Family Open
View article: Fetal Presentation of <i>MYRF</i>‐Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis
Fetal Presentation of <i>MYRF</i>‐Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis Open
Purpose MYRF ‐related cardiac‐urogenital syndrome ( MYRF ‐CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF ‐CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have bee…
View article: Optimizing care for <scp>MRKH</scp> patients: From malformation screening to uterus transplantation eligibility
Optimizing care for <span>MRKH</span> patients: From malformation screening to uterus transplantation eligibility Open
Introduction Mayer‐Rokitansky‐Küster‐Hauser (MRKH) syndrome with utero‐vaginal aplasia is the most severe form of the Müllerian duct anomalies and can be associated with extra‐genital abnormalities such as renal or skeletal anomalies, hear…
View article: Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit ( <i>GSS</i> )
Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit ( <i>GSS</i> ) Open
Glutathione synthetase deficiency is a rare inborn metabolic disease usually caused by biallelic variants in GSS . Clinical severity varies from isolated hemolytic anemia, sometimes associated with chronic metabolic acidosis and 5‐oxoproli…
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: Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders Open
Objective Prenatal exome sequencing (pES) is now commonly used in clinical practice. It can be used to identifiy an additional diagnosis in around 30% of fetuses with structural defects and normal chromosomal microarray analysis (CMA). How…
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: 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: DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations Open
The genetic findings we have acquired demonstrate a significant involvement of DISP1 variants in the phenotypic spectrum of midline defects. This underlines its importance as a crucial element in the efficient secretion of Sonic hedgehog. …
View article: O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects
O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects Open
The genes EIF3A (HGNC:3271) and EIF3B (HGNC:3280) encode individual subunits constituting the eukaryotic initiation factor 3 (eIF3) complex, a pivotal regulator of protein synthesis. Their interaction forms the nucleation core of the eIF3 …
View article: Developmental epileptic encephalopathy in <i>DLG4</i>‐related synaptopathy
Developmental epileptic encephalopathy in <i>DLG4</i>‐related synaptopathy Open
Objective The postsynaptic density protein of excitatory neurons PSD‐95 is encoded by discs large MAGUK scaffold protein 4 ( DLG4 ), de novo pathogenic variants of which lead to DLG4 ‐related synaptopathy. The major clinical features are d…
View article: Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features Open
Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants i…
View article: Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders Open
View article: PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect Open
View article: Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome Open
MYCN, a member of the MYC proto-oncogene family, regulates cell growth and proliferation. Somatic mutations of MYCN are identified in various tumors, and germline loss-of-function variants are responsible for Feingold syndrome, characteriz…
View article: Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders Open
Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised hopes to h…
View article: Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting Open
View article: Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool Open
Introduction: Prenatal ultrasound (US) anomalies are detected in around 5%–10% of pregnancies. In prenatal diagnosis, exome sequencing (ES) diagnostic yield ranges from 6% to 80% depending on the inclusion criteria. We describe the first F…
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 Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing Open
Introduction Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted next-generation sequencing (NGS) varied widely betw…
View article: Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype Open
View article: Deleterious, protein-altering variants in the X-linked transcriptional coregulator <i>ZMYM3</i> in 22 individuals with a neurodevelopmental delay phenotype
Deleterious, protein-altering variants in the X-linked transcriptional coregulator <i>ZMYM3</i> in 22 individuals with a neurodevelopmental delay phenotype Open
Neurodevelopmental disorders (NDDs) often result from highly penetrant variation in one of many genes, including genes not yet characterized. Using the MatchMaker Exchange, we assembled a cohort of 22 individuals with rare, protein-alterin…
View article: Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific <i>CNOT1</i> Variant
Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific <i>CNOT1</i> Variant Open
Holoprosencephaly (HPE) is a clinically and genetically heterogeneous disease, which can be associated with various prenatal comorbidities not always detectable on prenatal ultrasound. We report on the case of a foetus carrying a semi-loba…
View article: SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients Open