BETA: Related publications
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| Rom A, Melamed L, Gil N, et al. (2019) Regulation of CHD2 expression by the Chaserr long noncoding RNA gene is essential for viability. Nature Communications. 10: 5092 |
| Drabkin M, Yogev Y, Zeller L, et al. (2019) Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase. The Journal of Clinical Investigation |
| Wormser O, Gradstein L, Yogev Y, et al. (2019) SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. European Journal of Human Genetics : Ejhg |
| Perez Y, Bar-Yaacov R, Kadir R, et al. (2019) Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish. Brain : a Journal of Neurology |
| Wormser O, Gradstein L, Kadar E, et al. (2018) Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe. American Journal of Medical Genetics. Part A. 176: 2695-2703 |
| Halperin D, Kadir R, Perez Y, et al. (2018) mutation affects ER homeostasis, causing neurological syndrome. Journal of Medical Genetics |
| Flusser H, Halperin D, Kadir R, et al. (2018) Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease. Clinical Genetics. 94: 473-479 |
| Perez Y, Menascu S, Cohen I, et al. (2018) RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3. Brain : a Journal of Neurology |
| Cohen I, Staretz-Chacham O, Wormser O, et al. (2017) A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion. American Journal of Medical Genetics. Part A |
| Proskorovski-Ohayon R, Kadir R, Michalowski A, et al. (2017) PAX7 mutation in a syndrome of failure to thrive, hypotonia and global neuro-developmental delay. Human Mutation |