Daphna Marom
YOU?
Author Swipe
View article: High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single‐Center Neurogenetics Clinic
High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single‐Center Neurogenetics Clinic Open
Background As advanced molecular testing is incorporated into routine clinical practice, accessibility and yield remain limited. Objectives We propose a simplified and effective workup strategy to maximize diagnostic yield based on present…
View article: Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome?
Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome? Open
Both Neurofibromatosis type 1 (NF1) and Noonan syndrome (NS) are RASopathies. Characteristic cardiac phenotypes of NS, including specific electrocardiographic changes, pulmonary valve stenosis and hypertrophic cardiomyopathy have not been …
View article: National Rapid Genome Sequencing in Neonatal Intensive Care
National Rapid Genome Sequencing in Neonatal Intensive Care Open
Importance National implementation of rapid trio genome sequencing (rtGS) in a clinical acute setting is essential to ensure advanced and equitable care for ill neonates. Objective To evaluate the feasibility, diagnostic efficacy, and clin…
View article: Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders
Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders Open
MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with s…
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: Biallelic loss of <scp><i>EMC10</i></scp> leads to mild to severe intellectual disability
Biallelic loss of <span><i>EMC10</i></span> leads to mild to severe intellectual disability Open
The endoplasmic reticulum membrane protein complex subunit 10 (EMC10) is a highly conserved protein responsible for the post‐translational insertion of tail‐anchored membrane proteins into the endoplasmic reticulum in a defined topology. T…
View article: Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies
Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies Open
Objective Prenatally detected central nervous system (CNS) anomalies present a diagnostic challenge. In this study, we compared the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) in fetuses with a major…
View article: <scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation
<span><i>SCN3A</i></span>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation Open
Objective Pathogenic variants in SCN3A , encoding the voltage‐gated sodium channel subunit Nav1.3, cause severe childhood onset epilepsy and malformation of cortical development. Here, we define the spectrum of clinical, genetic, and neuro…
View article: Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>
Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i> Open
Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR or IFIH1 . We report on 374 patients from 299 families with mutations in these seven genes. M…