דלג לתפריט הראשי (מקש קיצור n) דלג לתוכן הדף (מקש קיצור s) דלג לתחתית הדף (מקש קיצור 2)

List of Publications

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah and Randi J. Hagerman  
Cells. 2023.  
PMID: 37759552 

Pluripotency-independent induction of human trophoblast stem cells from fibroblasts.
Naama M, Rahamim M, Zayat V, Sebban S, Radwan A, Orzech D, Lasry R, Ifrah A, Jaber M, Sabag O, Yassen H, Khatib A, Epsztejn-Litman S, Novoselsky-Persky M, Makedonski K, Deri N, Goldman-Wohl D, Cedar H, Yagel S, Eiges R, Buganim Y.
Nat Commun. 2023 Jun 8;14(1):3359.
doi: 10.1038/s41467-023-39104-1

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients.
Yanovsky-Dagan S, Cohen E, Megalli P, Altarescu G, Schonberger O, Eldar-Geva T, Epsztejn-Litman S, Eiges R.
Eur J Hum Genet. 2022 Aug;30(8):980-983.
doi: 10.1038/s41431-021-00999-3. PMID: 34776509

A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.
Gotkine M, de Majo M, Wong CH, Topp SD, Michaelson-Cohen R, Epsztejn-Litman S, Eiges R, Y YL, Kanaan M, Shaked HM, Alahmady N, Vance C, Newhouse SJ, Breen G, Nishimura AL, Shaw CE, Smith BN.
Neurobiol Aging. 2021 Oct;106:351.e1-351.e6.
doi: 10.1016/j.neurobiolaging.2021.05.009. PMID: 34272080

Correction of Heritable Epigenetic Defects Using Editing Tools.Handal T, Eiges R.
Int J Mol Sci. 2021 Apr 12;22(8):3966.
doi:10.3390/ijms22083966.PMID: 33921346 Review.

Monitoring for Epigenetic Modifications at the FMR1 Locus.
Epsztejn-Litman S, Eiges R.
Methods Mol Biol. 2019;1942:29-48. doi: 10.1007/978-1-4939-9080-1_3. PMID: 3090017

Deletion of the CTG Expansion in Myotonic Dystrophy Type 1 Reverses DMPK Aberrant Methylation in Human Embryonic Stem Cells but not Affected Myoblasts.
Yanovsky-Dagan S., Bnaya E., Abu Diab M., Handal T., Zahdeh F., van den Broek  W.J.A.A., Epsztejn-Litman S., Wansink D.G., Eiges R. (2019) bioRxiv doi: https://doi.org/10.1101/631457 

Incomplete methylation of a germ cell tumor (Seminoma) in a Prader-Willi male
Eldar-Geva T., Gross-Tsur V., Hirsch H.J., Altarescu G., Segal R., Zeligson S., Golomb E., Epsztejn-Litman S., Eiges R. (2018).. Mol. Genet.
Genomic Med.  Sep;6(5):811-818.
PMID: 30003711.

Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome. Frontiers in Molecular Neuroscience. Special issue: “The Fragile X Syndrome – Where Do We Go?”
Mor-Shaked H., Eiges R.
Front. Mol. Neurosci. 2018 Feb 06; 11(31): Ecollection. Review.
 PMID: 29467618.

The G-rich Repeats in FMR1 and C9orf72 Loci Are Hotspots for Local Unpairing of DNA
Abu Diab M, Mor-Shaked H, Cohen E , Cohen-Hadad Y , Ram O , Epsztejn-Litman S, Eiges R.  (2018).
Genetics. 2018 Dec;210(4):1239-1252.
 PMID: 30396881.


The contribution of pluripotent stem cell (PSC)-based models to the study of FXS. Special issue: “Towards Mechanism-based Treatments for Fragile X Syndrome” 
Abu Diab M. and Eiges R.
Brain Sciences.  Feb 15;9(2). pii: E42. doi: 10.3390/brainsci9020042. Review.
PMID: 30769941.


Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells.
Cohen-Hadad Y, Altarescu G, Eldar-Geva T, Levi-Lahad E, Zhang M, Rogaeva E, Gotkine M, Bartok O, Ashwal-Fluss R, Kadener S, Epsztejn-Litman S, Eiges R.
Stem Cell Reports. 2016 Nov 8;7(5):927-940. PMID: 27773700
 
Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells.
Mor-Shaked H, Eiges R.
Genes (Basel). 2016 Sep 28;7(10). pii: E77. Review.
PMID:2769010

Genetic Manipulation of Human Embryonic Stem Cells.
Eiges R.
Methods Mol Biol. 2016;1307:149-72. doi: 10.1007/7651_2014_155.
PMID:25520283

Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.
Yanovsky-Dagan S, Mor-Shaked H, Eiges R
World J Stem Cells 2015 Jun 26;7(5):823-38. Review. PMID: 26131313
 
Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis.
Epsztejn-Litman S, Cohen-Hadad Y., Aharoni S., Altarescu G., Renbaum P., Levy-Lahad E., Schonberger O., Eldar-Geva T., Zeligson S., Eiges R.
PLoS One. 2015Oct 16;10(10):e0138893. PMID: 26473610
 
Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells.
Yanovsky-Dagan S., Avitzour M., Altarescu G., Renbaum P., Eldar-Geva T.C Schonberger O, Mitrani-Rosenbaum S., Levy-Lahad E., Birnbaum R.Y., Gepstein L., Epsztejn-Litman S, Eiges R.
Stem Cell Reports, 2015Aug 11;5(2):221-31. PMID: 26190529
 
FMR1 epigenetic silencing commonly occurs in undifferentiated Fragile X affected embryonic stem cells.
Avitzour M., Mor-Shaked H., Yanovsky-Dagan S., Altarescu G., Renbaum P., Eldar-Geva T., Levy-Lahad E., Epsztejn-Litman S., Eiges R.
Stem Cell Reports, 2014 Nov 11;3(5):699-706. PMID: 25418717
 
The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome.
Stelzer Y, Sagi I, Yanuka O, Eiges R, Benvenisty N.
Nat Genet. 2014 Jun;46(6):551-7. doi: 10.1038/ng.2968. Epub 2014 May 11.
PMID:24816254
 
Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.
Altarescu G, Beeri R, Eiges R, Epsztejn-Litman S, Eldar-Geva T, Elstein D, Zimran A, Margalioth EJ, Levy-Lahad E, Renbaum P.
Mol Biol Int. 2012;2012:797342. doi: 10.1155/2012/797342. Epub 2012 Dec 26.
PMID:23320174

Female sex bias in human embryonic stem cell lines.
Ben-Yosef D, Amit A, Malcov M, Frumkin T, Ben-Yehudah A, Eldar I, Mey-Raz N, Azem F, Altarescu G, Renbaum P, Beeri R, Varshaver I, Eldar-Geva T, Epsztejn-Litman S, Levy-Lahad E, Eiges R.
Stem Cells Dev. 2012 Feb 10;21(3):363-72. doi: 10.1089/scd.2011.0102. Epub 2011 Jun 24.
PMID:21585244 

GNE is involved in the early development of skeletal and cardiac muscle.
Milman Krentsis I, Sela I, Eiges R, Blanchard V, Berger M, Becker Cohen M, Mitrani-Rosenbaum S.
PLoS One. 2011;6(6):e21389. doi: 10.1371/journal.pone.0021389. Epub 2011 Jun 24.
PMID:21731727
 
Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line.
Altarescu G, Renbaum P, Eldar-Geva T, Brooks B, Varshaver I, Avitzour M, Margalioth EJ, Levy-Lahad E, Elstein D, Epsztejn-Litman S, Eiges R.
Prenat Diagn. 2011 Sep;31(9):853-60. doi: 10.1002/pd.2786. Epub 2011 Jun 27.
PMID:21706504 
 
Genetic manipulation of human embryonic stem cells.
Epsztejn-Litman S, Eiges R.
Methods Mol Biol. 2010;584:387-411. doi: 10.1007/978-1-60761-369-5_21.
PMID:19907989


PGD-derived human embryonic stem cell lines as a powerful tool for the study of human genetic disorders.
Ben-Yosef D, Malcov M, Eiges R.
Mol Cell Endocrinol. 2008 Jan 30;282(1-2):153-8. doi: 10.1016/j.mce.2007.11.010. Review.
PMID:1818009

Activation and transposition of endogenous retroviral elements in hypomethylation induced tumors in mice.
Howard G, Eiges R, Gaudet F, Jaenisch R, Eden A.
Oncogene. 2008 Jan 10;27(3):404-8.
PMID:17621273


Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos.
Eiges R, Urbach A, Malcov M, Frumkin T, Schwartz T, Amit A, Yaron Y, Eden A, Yanuka O, Benvenisty N, Ben-Yosef D.
Cell Stem Cell. 2007 Nov;1(5):568-77. doi: 10.1016/j.stem.2007.09.001.
PMID:18371394
 
Genetic manipulation of human embryonic stem cells by transfection.
Eiges R.
Methods Mol Biol. 2006;331:221-39.
PMID:16881520


Human embryonic stem cells as a powerful tool for studying human embryogenesis.
Dvash T, Ben-Yosef D, Eiges R.
Pediatr Res. 2006 Aug;60(2):111-7. Review.
PMID:16864688
 
Temporal gene expression during differentiation of human embryonic stem cells and embryoid bodies.
Dvash T, Mayshar Y, Darr H, McElhaney M, Barker D, Yanuka O, Kotkow KJ, Rubin LL, Benvenisty N, Eiges R.
Hum Reprod. 2004 Dec;19(12):2875-83. Epub 2004 Sep 16.
PMID:15375076

A molecular view on pluripotent stem cells.
Eiges R, Benvenisty N.
FEBS Lett. 2002 Oct 2;529(1):135-41. Review.
PMID:12354626

Induced neuronal differentiation of human embryonic stem cells.
Schuldiner M, Eiges R, Eden A, Yanuka O, Itskovitz-Eldor J, Goldstein RS, Benvenisty N.
Brain Res. 2001 Sep 21;913(2):201-5.
PMID:11549388

Establishment of human embryonic stem cell-transfected clones carrying a marker for undifferentiated cells.
Eiges R, Schuldiner M, Drukker M, Yanuka O, Itskovitz-Eldor J, Benvenisty N.
Curr Biol. 2001 Apr 3;11(7):514-8.
PMID:11413002