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American Journal of Medical Genetics. Part A|February 1, 2024
PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndromeMichal Yacobi Bach, Sivan Reytan Miron, Alina Kurolap, et al.DNA Repair|July 20, 2025
Synthetic cytotoxicity profiling of cohesin mutants highlights recombination-based dependenciesRafaela Horbach Marodin, Ecaterina Cozma, Sivan Reytan-Miron, et al.Journal of Medical Genetics|April 9, 2025
LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohortSivan Reytan Miron, Alina Kurolap, Bassam Abu-Libdeh, et al.JAMA Network Open|February 22, 2024
National Rapid Genome Sequencing in Neonatal Intensive CareDaphna Marom, Adi Mory, Sivan Reytan-Miron, et al.Nature Communications|August 7, 2025
Exome analysis links kidney malformations to developmental disorders and reveals causal genesHila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena, et al.Pageof 1