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Identification of novel genetic causes of Rett syndrome-like phenotypes.
Lopes F, Barbosa M, Ameur A, Soares G, de Sá J, Dias AI, Oliveira G, Cabral P, Temudo T, Calado E, Cruz IF, Vieira JP, Oliveira R, Esteves S, Sauer S, Jonasson I, Syvänen AC, Gyllensten U, Pinto D, Maciel P. Lopes F, et al. Among authors: sauer s. J Med Genet. 2016 Mar;53(3):190-9. doi: 10.1136/jmedgenet-2015-103568. Epub 2016 Jan 6. J Med Genet. 2016. PMID: 26740508 Free article.
De novo mutations implicate novel genes in systemic lupus erythematosus.
Pullabhatla V, Roberts AL, Lewis MJ, Mauro D, Morris DL, Odhams CA, Tombleson P, Liljedahl U, Vyse S, Simpson MA, Sauer S, de Rinaldis E, Syvänen AC, Vyse TJ. Pullabhatla V, et al. Among authors: sauer s. Hum Mol Genet. 2018 Feb 1;27(3):421-429. doi: 10.1093/hmg/ddx407. Hum Mol Genet. 2018. PMID: 29177435 Free PMC article.
Homozygous loss-of-function variants in European cosmopolitan and isolate populations.
Kaiser VB, Svinti V, Prendergast JG, Chau YY, Campbell A, Patarcic I, Barroso I, Joshi PK, Hastie ND, Miljkovic A, Taylor MS; Generation Scotland; UK10K; Enroth S, Memari Y, Kolb-Kokocinski A, Wright AF, Gyllensten U, Durbin R, Rudan I, Campbell H, Polašek O, Johansson Å, Sauer S, Porteous DJ, Fraser RM, Drake C, Vitart V, Hayward C, Semple CA, Wilson JF. Kaiser VB, et al. Among authors: sauer s. Hum Mol Genet. 2015 Oct 1;24(19):5464-74. doi: 10.1093/hmg/ddv272. Epub 2015 Jul 14. Hum Mol Genet. 2015. PMID: 26173456 Free PMC article.
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB. Kremer LS, et al. Among authors: sauer s. Am J Hum Genet. 2016 Feb 4;98(2):358-62. doi: 10.1016/j.ajhg.2015.12.009. Epub 2016 Jan 21. Am J Hum Genet. 2016. PMID: 26805782 Free PMC article.
Bioenergetic cues shift FXR splicing towards FXRα2 to modulate hepatic lipolysis and fatty acid metabolism.
Correia JC, Massart J, de Boer JF, Porsmyr-Palmertz M, Martínez-Redondo V, Agudelo LZ, Sinha I, Meierhofer D, Ribeiro V, Björnholm M, Sauer S, Dahlman-Wright K, Zierath JR, Groen AK, Ruas JL. Correia JC, et al. Among authors: sauer s. Mol Metab. 2015 Sep 26;4(12):891-902. doi: 10.1016/j.molmet.2015.09.005. eCollection 2015 Dec. Mol Metab. 2015. PMID: 26909306 Free PMC article.
Dissecting the Effect of Genetic Variation on the Hepatic Expression of Drug Disposition Genes across the Collaborative Cross Mouse Strains.
Nachshon A, Abu-Toamih Atamni HJ, Steuerman Y, Sheikh-Hamed R, Dorman A, Mott R, Dohm JC, Lehrach H, Sultan M, Shamir R, Sauer S, Himmelbauer H, Iraqi FA, Gat-Viks I. Nachshon A, et al. Among authors: sauer s. Front Genet. 2016 Oct 5;7:172. doi: 10.3389/fgene.2016.00172. eCollection 2016. Front Genet. 2016. PMID: 27761138 Free PMC article.
625 results