Alice Goldenberg
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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: 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: 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: 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: 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: ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature Open
Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ARID2 belongs to PBAF, a unit of the SWI/SNF complex, which is a chromatin remodeling complex. T…
View article: Brain malformations and seizures by impaired chaperonin function of TRiC
Brain malformations and seizures by impaired chaperonin function of TRiC Open
Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individual…
View article: Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics Open
We report our 5-year experience in neurofibromatosis type 1 prenatal diagnosis (PND): 205 PNDs in 146 women (chorionic villus biopsies, 88% or amniocentesis, 12%). The NF1 variant was present in 85 (41%) and absent in 122 (59%) fetuses. Am…
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: Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants
Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants Open
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: 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: Table of Contents, Volume 194A, Number 4, April 2024
Table of Contents, Volume 194A, Number 4, April 2024 Open
View article: Penetrance, variable expressivity and monogenic neurodevelopmental disorders
Penetrance, variable expressivity and monogenic neurodevelopmental disorders Open
Incomplete penetrance for SNV and MNV in neurodevelopmental disorders might be more frequent than previously thought. This point is crucial to consider for interpretation of variants, family investigation, genetic counseling, and prenatal …
View article: Lessons from two series by physicians and caregivers' self‐reported data in <i>DDX3X</i>‐related disorders
Lessons from two series by physicians and caregivers' self‐reported data in <i>DDX3X</i>‐related disorders Open
Introduction and Methods We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. Results These two series include several symptoms in common, with fairly sim…
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: Growth charts in <scp>DYRK1A</scp> syndrome
Growth charts in <span>DYRK1A</span> syndrome Open
DYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low birth weight, growth restr…
View article: Low risk of embryonic and other cancers in <i>PIK3CA</i><scp>‐related</scp> overgrowth spectrum: Impact on screening recommendations
Low risk of embryonic and other cancers in <i>PIK3CA</i><span>‐related</span> overgrowth spectrum: Impact on screening recommendations Open
The PIK3CA ‐related overgrowth spectrum (PROS) encompasses various conditions caused by mosaic activating PIK3CA variants. PIK3CA somatic variants are also involved in various cancer types. Some generalized overgrowth syndromes are associa…
View article: Loss-of-function variants in<i>CUL3</i>cause a syndromic neurodevelopmental disorder
Loss-of-function variants in<i>CUL3</i>cause a syndromic neurodevelopmental disorder Open
Purpose De novo variants in CUL3 (Cullin-3 ubiquitin ligase) 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 rare …
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: 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: 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: Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis Open
Introduction: Exome sequencing has a diagnostic yield ranging from 25% to 70% in rare diseases and regularly implicates genes in novel disorders. Retrospective data reanalysis has demonstrated strong efficacy in improving diagnosis, but po…
View article: Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders
Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders Open
We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. These two series include several symptoms in common, with fairly similar distribution, which suggests…
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: Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders Open
Purpose: Multi-omics offer worthwhile and increasingly accessible technologies to diagnostic laboratories seeking potential second-tier strategies to help patients with unresolved rare diseases, especially patients clinically diagnosed wit…
View article: Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy Open
View article: Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications
Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications Open
The blood–brain barrier ensures CNS homeostasis and protection from injury. Claudin-5 (CLDN5), an important component of tight junctions, is critical for the integrity of the blood–brain barrier. We have identified de novo heterozygous mis…
View article: The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands Open
Hereditary optic neuropathies are caused by the degeneration of retinal ganglion cells whose axons form the optic nerves, with a consistent genetic heterogeneity. As part of our diagnostic activity, we retrospectively evaluated the combina…