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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: rauch a. 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.
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.
Chacon-Millan P, Delicato A, Mahmood A, Tirozzi A, Monfregola J, Duroure K, Serafini M, Kroll F, El-Hage O, Salah S, Atawneh OM, Atik T, Durmusalioglu EA, Isik E, Almontashiri NAM, Tabarki B, Kanaan M, Rabie G; Telethon Undiagnosed Diseases Program; Torella A, Spampanato C, Battaglia DI, Begemann A, Steindl K, Rauch A, Zweier M, Hajianpour M, Brigatti KW, Alhashem A, Maroofian R, Feigerlova E, Lambert L, Feillet F, Abbott MA, D'Alessio AM, Gonzaga-Jauregui C, Tawk M, De Matteis MA, Del Bene F, Zollino M, Nigro V, Venditti R, Franco B, Morleo M. Chacon-Millan P, et al. Among authors: rauch a. Am J Hum Genet. 2026 Feb 4:S0002-9297(26)00030-3. doi: 10.1016/j.ajhg.2026.01.008. Online ahead of print. Am J Hum Genet. 2026. PMID: 41643666
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.
Erkut E, Somerville C, Schwartz MLB, McDonald L, Ding Q, Moran OM, Chen X, Manshaei R, Riedijk AS, Schnürer MT, Koboldt DC, Antonarakis SE, Bedoukian EC, Blanc X, Conlin LK, Cox H, Diderich KEM, Dingmann B, Dubourg C, Elmslie F, Escobar LF, Gosselin R, Guillen Sacoto MJ, Haag CD, Herzig L, Jeeneea R, Kenia P, Kolokotronis K, Kopps AM, Kupper C, Lees H, Leonard J, Levy J, Littlejohn R, Mayer D, McLean SD, Pattani N, Perrin L, Pingault V, Quelin C, Ranza E, Rauch A, Reichert SL, Rosmaninho-Salgado J, Skraban C, Sousa S, Stuebben M, Zanoni P, Kim RH, Scott IC, Jobling RK. Erkut E, et al. Among authors: rauch a. Am J Hum Genet. 2025 Nov 6;112(11):2625-2642. doi: 10.1016/j.ajhg.2025.09.008. Epub 2025 Sep 30. Am J Hum Genet. 2025. PMID: 41033306 Free PMC article.
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
Hamilton EMC, Bertini E, Kalaydjieva L, Morar B, Dojčáková D, Liu J, Vanderver A, Curiel J, Persoon CM, Diodato D, Pinelli L, van der Meij NL, Plecko B, Blaser S, Wolf NI, Waisfisz Q, Abbink TEM, van der Knaap MS; Recessive H-ABC Research Group. Hamilton EMC, et al. Neurology. 2017 Oct 24;89(17):1821-1828. doi: 10.1212/WNL.0000000000004578. Epub 2017 Sep 20. Neurology. 2017. PMID: 28931644 Free PMC article.
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.
Erkut E, Somerville C, Schwartz MLB, McDonald L, Ding Q, Moran OM, Chen X, Manshaei R, Riedijk AS, Schnürer MT, Koboldt DC, Antonarakis SE, Bedoukian EC, Blanc X, Conlin LK, Cox H, Diderich KEM, Dingmann B, Dubourg C, Elmslie F, Escobar LF, Gosselin R, Guillen Sacoto MJ, Haag CD, Herzig L, Jeeneea R, Kenia P, Kolokotronis K, Kopps AM, Kupper C, Lees H, Leonard J, Levy J, Littlejohn R, Mayer D, McBride KL, McLean SD, Pattani N, Perrin L, Pingault V, Quelin C, Ranza E, Rauch A, Reichert SL, Rosmaninho-Salgado J, Skraban C, Sousa S, Stuebben M, Zanoni P, Kim RH, Scott IC, Jobling RK. Erkut E, et al. Among authors: rauch a. Am J Hum Genet. 2026 Feb 11:S0002-9297(26)00069-8. doi: 10.1016/j.ajhg.2026.02.005. Online ahead of print. Am J Hum Genet. 2026. PMID: 41679311 No abstract available.
Need & strategies for prioritisation of rehabilitation research in India.
Mullerpatan R, Rauch A, Mudau Q, Bappirambharath MA, Khedekar S, Tobgay T, Gangakhedkar RR, Grover A. Mullerpatan R, et al. Among authors: rauch a. Indian J Med Res. 2025 Dec;162(6):729-737. doi: 10.25259/IJMR_831_2025. Indian J Med Res. 2025. PMID: 41648975 Free PMC article. Review.
Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality.
Uhrova Meszarosova A, Galiart E, Lassuthova P, Kolokotronis K, Seidl B, Musilova A, Peckova A, Takacsova A, Vyhnalkova E, Grecmalova D, Vlckova E, Skutilova V, Steindl K, Rauch A, Stettner GM, Safka Brozkova D. Uhrova Meszarosova A, et al. Among authors: rauch a. Front Med (Lausanne). 2026 Jan 8;12:1704209. doi: 10.3389/fmed.2025.1704209. eCollection 2025. Front Med (Lausanne). 2026. PMID: 41585230 Free PMC article.
Circulating HBV RNA and hepatitis B core-related antigen as determinants of HBsAg loss in persons with HIV in Europe.
Begré L, Boyd A, Plissonnier ML, Testoni B, Béguelin C, Suter-Riniker F, Scholtès C, Rockstroh JK, Lacombe K, Peters L, Heil M, Levrero M, Rauch A, Zoulim F, Wandeler G; Swiss HIV Cohort Study, EuroSIDA and French HIV/HBV and Biliver cohorts; Members of the EuroSIDA Study Group; Members of the French HIV/HBV and Biliver cohorts. Begré L, et al. Among authors: rauch a. JHEP Rep. 2025 Nov 7;8(2):101671. doi: 10.1016/j.jhepr.2025.101671. eCollection 2026 Feb. JHEP Rep. 2025. PMID: 41551412 Free PMC article.
1,217 results