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309 results

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Page 1
Nociception and pain in humans lacking a functional TRPV1 channel.
Katz B, Zaguri R, Edvardson S, Maayan C, Elpeleg O, Lev S, Davidson E, Peters M, Kfir-Erenfeld S, Berger E, Ghazalin S, Binshtok AM, Minke B. Katz B, et al. Among authors: elpeleg o. J Clin Invest. 2023 Feb 1;133(3):e153558. doi: 10.1172/JCI153558. J Clin Invest. 2023. PMID: 36454632 Free PMC article.
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
Maroofian R, Efthymiou S, Suri M, Rahman F, Zaki MS, Maqbool S, Anwa N, Ruiz-Pérez VL, Yanovsky-Dagan S, Elpeleg O, Sudhakar S, Mankad K, Harel T, Houlden H. Maroofian R, et al. Among authors: elpeleg o. J Med Genet. 2023 Aug;60(8):791-796. doi: 10.1136/jmg-2022-108566. Epub 2022 Dec 29. J Med Genet. 2023. PMID: 36581449 Free PMC article.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Among authors: elpeleg o. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Mor E, Tzvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Jeong WC, Lee H, Bauer P, Zifarelli G, Houlden H, Elpeleg O, Gordon C, Harel T, Õunap K, Salton M, Mor-Shaked H. Engal E, et al. Among authors: elpeleg o. medRxiv [Preprint]. 2023 Jun 27:2023.06.19.23291425. doi: 10.1101/2023.06.19.23291425. medRxiv. 2023. PMID: 37425688 Free PMC article. Updated. Preprint.
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment.
Lin X, Wang W, Yang M, Damseh N, de Sousa MML, Jacob F, Lång A, Kristiansen E, Pannone M, Kissova M, Almaas R, Kuśnierczyk A, Siller R, Shahrour M, Al-Ashhab M, Abu-Libdeh B, Tang W, Slupphaug G, Elpeleg O, Bøe SO, Eide L, Sullivan GJ, Rinholm JE, Song H, Ming GL, van Loon B, Edvardson S, Ye J, Bjørås M. Lin X, et al. Among authors: elpeleg o. Genome Biol. 2023 Sep 29;24(1):216. doi: 10.1186/s13059-023-03037-1. Genome Biol. 2023. PMID: 37773136 Free PMC article.
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
Birnbaum R, Ezer S, Lotan NS, Eilat A, Sternlicht K, Benyamini L, Reish O, Falik-Zaccai T, Ben-Gad G, Rod R, Segel R, Kim K, Burton B, Keegan CE, Wagner M, Henderson LB, Mor N, Barel O, Hirsch Y, Meiner V, Elpeleg O, Harel T, Mor-Shakad H. Birnbaum R, et al. Among authors: elpeleg o. J Med Genet. 2024 Feb 21;61(3):289-293. doi: 10.1136/jmg-2023-109504. J Med Genet. 2024. PMID: 37833060
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Chan Jeong W, Lee H, Bauer P, Zifarelli G, Houlden H, Daana M, Elpeleg O, Amiel J, Lyonnet S, Gordon CT, Harel T, Õunap K, Salton M, Mor-Shaked H. Engal E, et al. Among authors: elpeleg o. Am J Hum Genet. 2023 Dec 7;110(12):2112-2119. doi: 10.1016/j.ajhg.2023.10.013. Epub 2023 Nov 13. Am J Hum Genet. 2023. PMID: 37963460
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Rips J, Halstuk O, Fuchs A, Lang Z, Sido T, Gershon-Naamat S, Abu-Libdeh B, Edvardson S, Salah S, Breuer O, Hadhud M, Eden S, Simon I, Slae M, Damseh NS, Abu-Libdeh A, Eskin-Schwartz M, Birk OS, Varga J, Schueler-Furman O, Rosenbluh C, Elpeleg O, Yanovsky-Dagan S, Mor-Shaked H, Harel T. Rips J, et al. Among authors: elpeleg o. Genet Med. 2024 Apr;26(4):101068. doi: 10.1016/j.gim.2024.101068. Epub 2024 Jan 6. Genet Med. 2024. PMID: 38193396
309 results