Naama Orenstein

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 188 citations · Full text

Genetics, Genetic Epidemiology, Pathology +17

DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis

Petro Starokadomskyy, Terry Gemelli, Jonathan J. Rios et al. · Nature Immunology · 2016 · 152 citations · Full text

Dna Polymerase-α, Transcriptional Regulation, Nucleic Acid Chemistry +14

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested

Lina Basel‐Vanagaite, Naama Orenstein, Keren Markus‐Bustani et al. · Genetics in Medicine · 2018 · 89 citations · Full text

Long COVID‐19 Liver Manifestation in Children

Shiri Cooper, Ana Tobar, Osnat Konen et al. · Journal of Pediatric Gastroenterology and Nutrition · 2022 · 64 citations

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin et al. · Brain · 2019 · 52 citations · Full text