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Page 1
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H. Stenton SL, et al. Among authors: javasky e. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267. J Clin Invest. 2021. PMID: 33465056 Free PMC article.
Neonatal osteoma cutis due to a mutation in GNAS.
Levy-Shraga Y, Barel O, Javasky E, Barzilai A, Greenberger S. Levy-Shraga Y, et al. Among authors: javasky e. Pediatr Dermatol. 2019 Sep;36(5):732-734. doi: 10.1111/pde.13879. Epub 2019 Jun 18. Pediatr Dermatol. 2019. PMID: 31215057
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
Bolkier Y, Barel O, Marek-Yagel D, Atias-Varon D, Kagan M, Vardi A, Mishali D, Katz U, Salem Y, Tirosh-Wagner T, Jacobson JM, Raas-Rothschild A, Chorin O, Eliyahu A, Sarouf Y, Shlomovitz O, Veber A, Shalva N, Javasky E, Ben Moshe Y, Staretz-Chacham O, Rechavi G, Mane S, Anikster Y, Vivante A, Pode-Shakked B. Bolkier Y, et al. Among authors: javasky e. J Med Genet. 2022 Jul;59(7):691-696. doi: 10.1136/jmedgenet-2021-107775. Epub 2021 Jul 2. J Med Genet. 2022. PMID: 34215651
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: javasky e. Sci Rep. 2021 Sep 27;11(1):19099. doi: 10.1038/s41598-021-98646-w. Sci Rep. 2021. PMID: 34580403 Free PMC article.
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: javasky e. Front Pediatr. 2022 Mar 30;10:844845. doi: 10.3389/fped.2022.844845. eCollection 2022. Front Pediatr. 2022. PMID: 35433545 Free PMC article.
Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain-of-function.
Shamriz O, Lev A, Simon AJ, Barel O, Javasky E, Matza-Porges S, Shaulov A, Davidovics Z, Toker O, Somech R, Zlotogorski A, Molho-Pessach V, Tal Y. Shamriz O, et al. Among authors: javasky e. Clin Exp Immunol. 2021 Oct;206(1):56-67. doi: 10.1111/cei.13636. Epub 2021 Jul 12. Clin Exp Immunol. 2021. PMID: 34114647 Free PMC article.
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: javasky e. Pediatr Nephrol. 2022 Jul;37(7):1623-1646. doi: 10.1007/s00467-021-05374-4. Epub 2022 Jan 7. Pediatr Nephrol. 2022. PMID: 34993602
Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.
Lev A, Lee YN, Sun G, Hallumi E, Simon AJ, Zrihen KS, Levy S, Beit Halevi T, Papazian M, Shwartz N, Somekh I, Levy-Mendelovich S, Wolach B, Gavrieli R, Vernitsky H, Barel O, Javasky E, Stauber T, Ma CA, Zhang Y, Amariglio N, Rechavi G, Hendel A, Yablonski D, Milner JD, Somech R. Lev A, et al. Among authors: javasky e. J Exp Med. 2021 Mar 1;218(3):e20201062. doi: 10.1084/jem.20201062. J Exp Med. 2021. PMID: 33231617 Free PMC article.
14 results