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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: weiss k. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: weiss k. Nat Commun. 2023 Jun 15;14(1):3566. doi: 10.1038/s41467-023-39372-x. Nat Commun. 2023. PMID: 37322043 Free PMC article. No abstract available.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Lecca M, Pehlivan D, Suñer DH, Weiss K, Coste T, Zweier M, Oktay Y, Danial-Farran N, Rosti V, Bonasoni MP, Malara A, Contrò G, Zuntini R, Pollazzon M, Pascarella R, Neri A, Fusco C, Marafi D, Mitani T, Posey JE, Bayramoglu SE, Gezdirici A, Hernandez-Rodriguez J, Cladera EA, Miravet E, Roldan-Busto J, Ruiz MA, Bauzá CV, Ben-Sira L, Sigaudy S, Begemann A, Unger S, Güngör S, Hiz S, Sonmezler E, Zehavi Y, Jerdev M, Balduini A, Zuffardi O, Horvath R, Lochmüller H, Rauch A, Garavelli L, Tournier-Lasserve E, Spiegel R, Lupski JR, Errichiello E. Lecca M, et al. Among authors: weiss k. Am J Hum Genet. 2023 Apr 6;110(4):681-690. doi: 10.1016/j.ajhg.2023.03.005. Epub 2023 Mar 29. Am J Hum Genet. 2023. PMID: 36996813 Free PMC article.
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D, Mory A, Reytan-Miron S, Amir Y, Kurolap A, Cohen JG, Morhi Y, Smolkin T, Cohen L, Zangen S, Shalata A, Riskin A, Peleg A, Lavie-Nevo K, Mandel D, Chervinsky E, Fisch CF, Fleisher Sheffer V, Falik-Zaccai TC, Rips J, Shlomai NO, Friedman SE, Shporen CH, Ben-Yehoshua SJ, Simmonds A, Yaacobi RG, Bauer-Rusek S, Omari H, Weiss K, Hochwald O, Koifman A, Globus O, Batzir NA, Yaron N, Segel R, Morag I, Reish O, Eliyahu A, Leibovitch L, Schwartz ME, Abramsky R, Hochberg A, Oron A, Banne E, Portnov I, Samra NN, Singer A, Baris Feldman H. Marom D, et al. Among authors: weiss k. JAMA Netw Open. 2024 Feb 5;7(2):e240146. doi: 10.1001/jamanetworkopen.2024.0146. JAMA Netw Open. 2024. PMID: 38386321 Free PMC article.
High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants.
Reznick Levi G, Goldberg Y, Segev H, Maza I, Gorelik Y, Laish I, Levi Z, Kedar I, Naftali Nathan S, Sharon Swartzman N, Abu Freha N, Paritsky M, Rennert G, Baris Feldman H, Paperna T, Weiss K, Half EE. Reznick Levi G, et al. Among authors: weiss k. Dig Liver Dis. 2023 Jul;55(7):880-887. doi: 10.1016/j.dld.2023.01.151. Epub 2023 Feb 4. Dig Liver Dis. 2023. PMID: 36740502 Review.
Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardia.
Blich M, Zohar Y, Cohen-Kaplan V, Minkov I, Asleh R, Horowitz-Cederboim S, Weiss K, Paperna T, Lessick J, Abadi S, Khoury A, Gepstein L, Suleiman M, Caspi O. Blich M, et al. Among authors: weiss k. Pacing Clin Electrophysiol. 2024 Apr;47(4):503-510. doi: 10.1111/pace.14950. Epub 2024 Feb 20. Pacing Clin Electrophysiol. 2024. PMID: 38375917
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease.
Shlomovitz O, Atias-Varon D, Yagel D, Barel O, Shasha-Lavsky H, Skorecki K, Eliyahu A, Bathish Y, Frajewicki V, Kushnir D, Zaid R, Paperna T, Ofir A, Tchirkov M, Hassan K, Kruzel E, Khazim K, Geron R, Weisman I, Hanut A, Nakhoul F, Kenig-Kozlovsky Y, Refael G, Antebi A, Storch S, Leiba M, Kagan M, Shukrun R, Rechavi G, Dekel B, Ben Moshe Y, Weiss K, Assady S, Vivante A. Shlomovitz O, et al. Among authors: weiss k. Am J Kidney Dis. 2024 Feb;83(2):183-195. doi: 10.1053/j.ajkd.2023.06.006. Epub 2023 Sep 15. Am J Kidney Dis. 2024. PMID: 37717846
2,150 results