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Page 1
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.
Müller F, Neuser S, Shrestha G, Neupane NP, Götze KJ, Brunetti-Pierri N, Terrone G, Reymond A, van Gassen KL, Brilstra E, Steindl K, Begemann A, Rauch A, Rips J, Fahham D, Barakat TS, Patat O, Mortreux J, Chau MHK, Rosenfeld JA, Mizerik E, Srivastava S, Luo X, Dahse AK, Scholz N, Das J, Roman G, Langenhan T, Abou Jamra R, Mrestani A, Ljaschenko D. Müller F, et al. Among authors: rips j. Biochem Biophys Rep. 2025 Nov 28;45:102375. doi: 10.1016/j.bbrep.2025.102375. eCollection 2026 Mar. Biochem Biophys Rep. 2025. PMID: 41399760 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: rips j. JAMA Netw Open. 2024 Feb 5;7(2):e240146. doi: 10.1001/jamanetworkopen.2024.0146. JAMA Netw Open. 2024. PMID: 38386321 Free PMC article.
Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene Association.
Keehan LA, Ono-Minagi H, Hadhud M, Rips J, Hinds DM, Fischer AJ, Bartlett JA, McCray PB Jr, Qawasmi N, Nathan N, Louvrier C, Desroziers T, Damme M, Griese M, Wegner DJ, Cole FS, Wambach JA, Wheeler MT, Burbelo PD, Bonner DE; Undiagnosed Diseases Network; Bernstein JA, Chiorini JA, Breuer O, Milla C. Keehan LA, et al. Among authors: rips j. Genet Med. 2026 Feb 3:102531. doi: 10.1016/j.gim.2026.102531. Online ahead of print. Genet Med. 2026. PMID: 41653023
Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives.
Adella A, Jouret F, Madariaga L, Leermakers PA, Arango P, Ariceta G, Beck BB, Bjerre A, Bockenhauer D, Coccia P, Dhamija R, de Frutos F, Garcia-Castano A, van Katwijk SB, Lucas J, Möller T, Müller D, Pinto E Vairo F, Raki M, Rips J, Schlingmann KP, Venselaar H, Machado Bressan Wilke MV, Nijenhuis T, Hoenderop J, de Baaij J. Adella A, et al. Among authors: rips j. Kidney Int Rep. 2025 Jul 29;10(10):3640-3655. doi: 10.1016/j.ekir.2025.07.035. eCollection 2025 Oct. Kidney Int Rep. 2025. PMID: 41141537 Free PMC article.
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