Dorit Lev
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View article: Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay Open
Short-read genome sequencing (GS) is a powerful technique for investigating the genetic etiologies of rare diseases, capturing diverse genetic variations that are challenging to approach with exome sequencing (ES). We performed GS on 260 f…
View article: Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic
Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic Open
Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort…
View article: Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome Open
Background Phelan–McDermid syndrome (PMS) is a neurodevelopmental disorder, caused by haploinsufficiency of the SHANK3 gene. In addition to global developmental delay (GDD)/intellectual disability (ID) and autism spectrum disorder (ASD), P…
View article: Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies
Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies Open
Aim To evaluate the role of parental magnetic resonance imaging (MRI) in assessing fetuses with suspected brain anomalies and its use in prenatal counselling. Method A retrospective, multicentre chart review was conducted on fetuses who un…
View article: Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement Open
Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but r…
View article: Small size, big problems: insights and difficulties in prenatal diagnosis of fetal microcephaly
Small size, big problems: insights and difficulties in prenatal diagnosis of fetal microcephaly Open
Microcephaly is a sign, not a diagnosis. Its incidence varies widely due to the differences in the definition and the population being studied. It is strongly related to neurodevelopmental disorders. Differences in definitions and measurem…
View article: Novel phenotype associated with homozygous likely pathogenic variant in the <scp>POP1</scp> gene
Novel phenotype associated with homozygous likely pathogenic variant in the <span>POP1</span> gene Open
The biallelic variants of the POP1 gene are associated with the anauxetic dysplasia (AAD OMIM 607095), a rare skeletal dysplasia, characterized by prenatal rhizomelic shortening of limbs and generalized joint hypermobility. Affected indivi…
View article: Autosomal Dominant, Long-Standing Dysglycemia in 2 Families with Unique Phenotypic Features
Autosomal Dominant, Long-Standing Dysglycemia in 2 Families with Unique Phenotypic Features Open
We describe 2 families with 5 members from 2 generations whose clinical and laboratory characteristics over up to 15 years were consistent with dysglycemia/impaired glucose tolerance. In both families (2 probands and 3 family members), lon…
View article: Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature Open
Sequence-based genetic testing currently identifies causative genetic variants in ∼50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmenta…
View article: OP04.04: Comparison of the prenatal imaging findings at the second and third trimester of pregnancy to the autopsy findings in fetuses with brain anomalies
OP04.04: Comparison of the prenatal imaging findings at the second and third trimester of pregnancy to the autopsy findings in fetuses with brain anomalies Open
The fetal neurology clinic (FNC) is a multidisciplinary clinic that utilises the advancements in prenatal imaging (US and MRI) and genetic testing to identify brain anomalies and prognosticate the neurodevelopmental outcome of fetuses to p…
View article: Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria Open
Importance Polymicrogyria is the most commonly diagnosed cortical malformation and is associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, and cognitive deficits. Polymicrogyria frequently co-occurs with oth…
View article: Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation Open
This is the first study to describe a series of 13 patients with medullary tegmental cap dysplasia. The cap has different shapes: distinct in Joubert-Boltshauser syndrome and fibrodysplasia ossificans progressive. Due to the variations in …
View article: Thrombin generation and endothelial progenitor cell function among patients with acute myocardial infarction treated with prasugrel versus ticagrelor
Thrombin generation and endothelial progenitor cell function among patients with acute myocardial infarction treated with prasugrel versus ticagrelor Open
Objectives To compare the effects of prasugrel and ticagrelor on thrombin generation (TG) and circulating endothelial progenitor cells (EPCs) in the acute phase of ST-segment elevation myocardial infarction (STEMI). Background TG, platelet…
View article: Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in <i>VPS33A</i>
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in <i>VPS33A</i> Open
A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane-tethering protein complexes, HOPS, and CORVE…
View article: Juvenile Mucopolysaccharidosis plus disease caused by a missense mutation in<i>VPS33A</i>
Juvenile Mucopolysaccharidosis plus disease caused by a missense mutation in<i>VPS33A</i> Open
Background A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane-tethering protein complexes, HOPS…
View article: Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder
Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder Open
Interstitial deletions of 16q24.1–q24.2 are associated with alveolar capillary dysplasia, congenital renal malformations, neurodevelopmental disorders, and congenital abnormalities. Lymphedema–Distichiasis syndrome (LDS; OMIM # 153400) is …
View article: Successful pregnancy in a patient with mitochondrial cardiomyopathy due to <scp>ACAD9</scp> deficiency
Successful pregnancy in a patient with mitochondrial cardiomyopathy due to <span>ACAD9</span> deficiency Open
Acyl‐CoA dehydrogenase family member 9 (ACAD9) is an enzyme essential for the assembly of mitochondrial respiratory chain complex I. ACAD9 deficiency can cause lactic acidosis, myopathy, cardiomyopathy, intellectual disability, and early d…
View article: Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome? Open
The clinical presentation of bilateral perisylvian polymicrogyria (PMG) is highly variable, including oromotor dysfunction, epilepsy, intellectual disability, and pyramidal signs. Extrapyramidal features are extremely rare. We present four…
View article: Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene <scp> <i>ATOH1</i> </scp>
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene <span> <i>ATOH1</i> </span> Open
Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities of diverse geographic origins, …
View article: Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function Open
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutières syndrome and Singleton Merten syndrome. Ascertaining patients through a Eur…