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Page 1
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB. Ruzzo EK, et al. Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron.2013.08.013. Neuron. 2013. PMID: 24139043 Free PMC article.
Noncoding deletions reveal a gene that is critical for intestinal function.
Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA. Oz-Levi D, et al. Among authors: bar joseph i. Nature. 2019 Jul;571(7763):107-111. doi: 10.1038/s41586-019-1312-2. Epub 2019 Jun 19. Nature. 2019. PMID: 31217582 Free PMC article.
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D. Oz-Levi D, et al. Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176824 Free PMC article.
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
Bar-joseph I, Pras E, Reznik-Wolf H, Marek-Yagel D, Abu-Horvitz A, Dushnitzky M, Goldstein N, Rienstein S, Dekel M, Pode-Shakked B, Zlotnik J, Benarrosh A, Gillery P, Hofliger N, Auray-Blais C, Garnotel R, Anikster Y. Bar-joseph I, et al. Hum Genet. 2012 Nov;131(11):1805-10. doi: 10.1007/s00439-012-1207-x. Epub 2012 Jul 24. Hum Genet. 2012. PMID: 22825317
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Pode-Shakked B, Barel O, Singer A, Regev M, Poran H, Eliyahu A, Finezilber Y, Segev M, Berkenstadt M, Yonath H, Reznik-Wolf H, Gazit Y, Chorin O, Heimer G, Gabis LV, Tzadok M, Nissenkorn A, Bar-Yosef O, Zohar-Dayan E, Ben-Zeev B, Mor N, Kol N, Nayshool O, Shimshoviz N, Bar-Joseph I, Marek-Yagel D, Javasky E, Einy R, Gal M, Grinshpun-Cohen J, Shohat M, Dominissini D, Raas-Rothschild A, Rechavi G, Pras E, Greenbaum L. Pode-Shakked B, et al. Among authors: bar joseph i. Sci Rep. 2021 Sep 27;11(1):19099. doi: 10.1038/s41598-021-98646-w. Sci Rep. 2021. PMID: 34580403 Free PMC article.
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.
Chorin O, Chowers G, Agbariah R, Karklinsky S, Barel O, Bar-Joseph I, Reznik-Wolf H, Shamash J, Pode-Shakked B, Jacobson JM, Huna-Baron R, Redler Y, Tirosh I, Vivante A, Raas-Rothschild A. Chorin O, et al. Among authors: bar joseph i. Eur J Med Genet. 2022 Jan;65(1):104383. doi: 10.1016/j.ejmg.2021.104383. Epub 2021 Nov 16. Eur J Med Genet. 2022. PMID: 34798323
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.
Pode-Shakked B, Ben-Moshe Y, Barel O, Regev LC, Kagan M, Eliyahu A, Marek-Yagel D, Atias-Varon D, Lahav E, Issler N, Shlomovitz O, Semo Oz R, Kol N, Mor N, Bar-Joseph I, Khavkin Y, Javasky E, Beckerman P, Greenberg M, Volovelsky O, Borovitz Y, Davidovits M, Haskin O, Alfandary H, Levi S, Kaidar M, Katzir Z, Angel-Korman A, Becker-Cohen R, Ben-Shalom E, Leiba A, Mor E, Dagan A, Pessach IM, Lotan D, Shashar M, Anikster Y, Raas-Rothschild A, Rechavi G, Dekel B, Vivante A. Pode-Shakked B, et al. Among authors: bar joseph i. Pediatr Nephrol. 2022 Jul;37(7):1623-1646. doi: 10.1007/s00467-021-05374-4. Epub 2022 Jan 7. Pediatr Nephrol. 2022. PMID: 34993602
Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.
Eliyahu A, Barel O, Greenbaum L, Zaks Hoffer G, Goldberg Y, Raas-Rothschild A, Singer A, Bar-Joseph I, Kunik V, Javasky E, Staretz-Chacham O, Pode-Shakked N, Bazak L, Ruhrman-Shahar N, Pras E, Frydman M, Shohat M, Pode-Shakked B. Eliyahu A, et al. Among authors: bar joseph i. Front Pediatr. 2022 Mar 30;10:844845. doi: 10.3389/fped.2022.844845. eCollection 2022. Front Pediatr. 2022. PMID: 35433545 Free PMC article.
67 results