CRISPR/Cas9-induced gene conversion between ATAD3 paralogs

por Yanovsky-Dagan, Shira, Frumkin, Ayala, Lupski, James R., Harel, Tamar
Publicado 2022

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients

por Yanovsky-Dagan, Shira, Cohen, Eliora, Megalli, Pauline, Altarescu, Gheona, Schonberger, Oshrat, Eldar-Geva, Talia, Epsztejn-Litman, Silvina, Eiges, Rachel
Publicado 2021

A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay

por Mo, Alisa, Paz‐Ebstein, Emuna, Yanovsky‐Dagan, Shira, Lai, Abbe, Mor‐Shaked, Hagar, Gilboa, Tal, Yang, Edward, Shao, Diane D., Walsh, Christopher A., Harel, Tamar
Publicado 2023

FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells

por Avitzour, Michal, Mor-Shaked, Hagar, Yanovsky-Dagan, Shira, Aharoni, Shira, Altarescu, Gheona, Renbaum, Paul, Eldar-Geva, Talia, Schonberger, Oshrat, Levy-Lahad, Ephrat, Epsztejn-Litman, Silvina, Eiges, Rachel
Publicado 2014

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells

por Yanovsky-Dagan, Shira, Avitzour, Michal, Altarescu, Gheona, Renbaum, Paul, Eldar-Geva, Talia, Schonberger, Oshrat, Mitrani-Rosenbaum, Stella, Levy-Lahad, Ephrat, Birnbaum, Ramon Y., Gepstein, Lior, Epsztejn-Litman, Silvina, Eiges, Rachel
Publicado 2015

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

por Maroofian, Reza, Efthymiou, Stephanie, Suri, Mohnish, Rahman, Fatima, Zaki, Maha S, Maqbool, Shazia, Anwa, Najwa, Ruiz-Pérez, Victor L, Yanovsky-Dagan, Shira, Elpeleg, Orly, Sudhakar, Sniya, Mankad, Kshitij, Harel, Tamar, Houlden, Henry
Publicado 2023

Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing

por Mor-Shaked, Hagar, Paz-Ebstein, Emuna, Basal, Adily, Ben-Haim, Simona, Grobe, Hanna, Heymann, Sami, Israel, Zvi, Namnah, Montaser, Nitzan, Anat, Rosenbluh, Chaggai, Saada, Ann, Tzur, Tomer, Yanovsky-Dagan, Shira, Zaidel-Bar, Ronen, Harel, Tamar, Arkadir, David
Publicado 2021