Daphna Marom
Tel Aviv Sourasky Medical Center(IL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Infective Endocarditis Diagnosis and Management
Most-Cited Works
- → Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response(2009)682 cited
- → Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)601 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Acute Infantile Liver Failure Due to Mutations in the TRMU Gene(2009)226 cited
- → Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1(2012)103 cited
- → SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation(2020)93 cited
- → Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies(2022)77 cited
- → The National Autism Database of Israel: a Resource for Studying Autism Risk Factors, Biomarkers, Outcome Measures, and Treatment Efficacy(2020)45 cited
- → A RANDOMIZED, DOUBLE-BLIND STUDY EXAMINING THE COMPARATIVE EFFICACIES AND SAFETY OF INHALED EPINEPHRINE AND NASAL DECONGESTANT IN HOSPITALIZED INFANTS WITH ACUTE BRONCHIOLITIS(2009)44 cited
- → Healthcare-associated Versus Community-associated Infective Endocarditis in Children(2011)42 cited