A5069900999- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- Peptidase Inhibition and Analysis
- Prenatal Screening and Diagnostics
- RNA Research and Splicing
- Viral gastroenteritis research and epidemiology
- Congenital heart defects research
- Tumors and Oncological Cases
- Connective tissue disorders research
- Bone Metabolism and Diseases
- Epigenetics and DNA Methylation
- Cutaneous Melanoma Detection and Management
- AI in cancer detection
- Congenital Heart Disease Studies
- RNA regulation and disease
- Biomedical Research and Pathophysiology
- Autophagy in Disease and Therapy
- Glycogen Storage Diseases and Myoclonus
- Protein Kinase Regulation and GTPase Signaling
- Ubiquitin and proteasome pathways
- Genetic and Kidney Cyst Diseases
- Lysosomal Storage Disorders Research
Edmond and Lily Safra Children's Hospital
2021-2025
Sheba Medical Center
2021-2025
Tel Aviv University
2016-2025
Center for Human Genetics
2020-2022
Arthur M. Sackler Gallery
2021
New York University
2020
Wolfson Medical Center
2016
Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and characteristic facial gestalt. The first individuals ascertained carried de novo loss-of-function (LoF) variants in HNRNPK. Here, we report 32 AKS (26 previously unpublished), including 13 missense variants. We propose new clinical diagnostic criteria for that differentiate it from the clinically overlapping Kabuki describe significant phenotypic expansion to include who present subtle...
BackgroundIn Lesch-Nyhan disease (LND), early dopamine deficiency is thought to contribute dystonia and self-injury, gradually developing over the first years of life. Previous attempts restore levels in older patients have been unsuccessful. Based on hypothesis that very replacement can prevent full phenotypic development, we treated 3 LND from infancy with levodopa.MethodsLevodopa/carbidopa (4:1) was started at 11—13 months age, aiming escalating 5–6 mg/kg levodopa per day. Follow-up...
ABSTRACT Background Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult‐onset autosomal‐dominant disorder caused by pathogenic variants in the ( TTR ) gene. Data about relevant specific populations and typical initial manifestations may facilitate early diagnosis treatment. We here describe genetic landscape of ATTRv Israel. Methods Genetic clinical data variant carriers patients were collected from national referral clinic other subspecialty clinics Genotype–phenotype correlations...
Abstract 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), PMS characterized multiple neurologic, behavioral multisystemic manifestations. Methods We aimed establish database individuals with in Israel. All participants underwent detailed evaluation at single medical center, demographic, clinical, genetic...
Background The molecular basis of heterotaxy and congenital heart malformations associated with disruption left–right asymmetry is broad heterogenous, over 25 genes implicated in its pathogenesis thus far. Objective We sought to elucidate the laterality disorders defects a cohort 30 unrelated probands Arab–Muslim descent, using next-generation sequencing techniques. Methods Detailed clinical phenotyping followed by whole-exome (WES) was pursued for each their parents (when available). Sanger...
Abstract Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits test's accessibility many patients. We evaluated yield publicly funded clinical ES, performed at a tertiary center in Israel, over 3-year period (2018–2020). Probands presented (1) moderate-to-profound global developmental delay (GDD)/intellectual disability (ID); or (2) mild GDD/ID epilepsy anomaly;...
Congenital hypotonic conditions are rare and heterogeneous, some severely debilitating or lethal. Contrary to its prominent postnatal manifestation, the prenatal presentation of hypotonia is frequently subtle, inhibiting detection. We aimed characterize sonographic manifestation congenital throughout pregnancy, evaluate yield diagnostic tests propose models increase
<b><i>Background:</i></b> Kawasaki disease (KD) is an acute, systemic vasculitis in children, with etiology that not completely understood. It assumed the development of KD mediated by immunologic response. Several reports from East Asia have found a higher prevalence atopic diseases among patients KD, but large-scale study non-Asian population regarding this correlation still lacking. The purpose article was to achieve goal....
Background: Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over variety subspecialties, it is not yet routinely used by hospitalists. We aim investigate the impact sequencing-naive suspected having monogenic disorders while receiving inpatient care. Methods: prospectively employed service at large tertiary medical center Israel....
ABSTRACT Purpose Epigenetic dysregulation has been associated with many inherited disorders. RBBP5 encodes a core member of the protein complex that methylates histone 3 lysine-4 (H3K4) and not implicated in human disease. Methods We identify five unrelated individuals de novo heterozygous pathogenic variants . Three truncating two missense were identified probands neurodevelopmental symptoms including global developmental delay, intellectual disability, microcephaly, short stature. Here, we...
Abstract Protein phosphatase 2A (PP2A) is a heterotrimeric serine/threonine that regulates numerous biological processes. PPP2R1A encodes the scaffolding “Aα” subunit of PP2A. To date, nearly 40 patients have been previously reported with 19 different pathogenic variants, phenotypes including intellectual disability, developmental delay, epilepsy, infant agenesis/dysgenesis corpus callosum, and dysmorphic features. Apart from single case, severe congenital heart defects (CHD) not described....
Abstract Background Over half of children with rare genetic diseases remain undiagnosed despite maximal clinical evaluation and DNA‐based testing. As part an Undiagnosed Diseases Program applying transcriptome (RNA) sequencing to identify the causes these unsolved cases, we studied a child severe infantile osteopetrosis leading cranial nerve palsies, bone deformities, marrow failure, for whom whole‐genome was nondiagnostic. Methods We performed whole blood followed by analysis aberrant...
Introduction: Vici Syndrome is a rare, severe, neurodevelopmental/neurodegenerative disorder with multi-systemic manifestations presenting in infancy. It mainly characterized by global developmental delay, seizures, agenesis of the corpus callosum, hair and skin hypopigmentation, bilateral cataract, varying degrees immunodeficiency, among other features. caused biallelic pathogenic variants EPG5, resulting impaired autophagy. Thus far, condition has been reported less than hundred...
Abstract Objective Neuromuscular evaluation increasingly employs muscle ultrasonography to determine thickness, mean grayscale echointensity, and visual semiquantitative echotexture attenuation. However, these measures provide low sensitivity for detection of mild abnormality. Exercise‐induced intramuscular blood flow is a physiologic phenomenon, which may be impaired in mildly affected muscles, particularly dystrophinopathies, indicate functional ischemia. We aimed if reduced patients with...
ABSTRACT Purpose MYRF ‐related cardiac‐urogenital syndrome ( ‐CUGS) is a rare condition associated with heterozygous variants. The description of ‐CUGS phenotype mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal by reporting clinical data from fetuses neonates pathogenic variant. Methods Detailed radiographic, pathological, clinical, molecular 12 were collected through an international collaborative study. Adding five...