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Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.
Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, Yu L, Brewer C, Collins JA, Molhuizen HO, Loubser O, Ouelette BF, Fichter K, Ashbourne-Excoffon KJ, Sensen CW, Scherer S, Mott S, Denis M, Martindale D, Frohlich J, Morgan K, Koop B, Pimstone S, Kastelein JJ, Genest J Jr, Hayden MR. Brooks-Wilson A, et al. Among authors: scherer s. Nat Genet. 1999 Aug;22(4):336-45. doi: 10.1038/11905. Nat Genet. 1999. PMID: 10431236
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.
Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T. Ross AJ, et al. Among authors: scherer s. Nat Genet. 1998 Dec;20(4):358-61. doi: 10.1038/3828. Nat Genet. 1998. PMID: 9843207
Chromosome X-wide common variant association study in autism spectrum disorder.
Mendes M, Chen DZ, Engchuan W, Leal TP, Thiruvahindrapuram B, Trost B, Howe JL, Pellecchia G, Nalpathamkalam T, Alexandrova R, Salazar NB, McKee EA, Rivera-Alfaro N, Lai MC, Bandres-Ciga S, Roshandel D, Bradley CA, Anagnostou E, Sun L, Scherer SW. Mendes M, et al. Among authors: scherer sw. Am J Hum Genet. 2024 Dec 9:S0002-9297(24)00417-8. doi: 10.1016/j.ajhg.2024.11.008. Online ahead of print. Am J Hum Genet. 2024. PMID: 39706197
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.
Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Mendes M, Reuter MS, Anagnostou E, MacDonald JR, Ko SY, Frankland PW, Charlebois J, Elsabbagh M, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV; Undiagnosed Diseases Network; Douine ED, Corona RI, Russell BE, Nelson SF, Graziano C, Schwab M, Simone L, Zara F, Scherer SW. Scala M, et al. Among authors: scherer sw. Am J Hum Genet. 2024 Nov 28:S0002-9297(24)00412-9. doi: 10.1016/j.ajhg.2024.11.003. Online ahead of print. Am J Hum Genet. 2024. PMID: 39706195
Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes.
Huguet G, Renne T, Poulain C, Dubuc A, Kumar K, Kazem S, Engchuan W, Shanta O, Douard E, Proulx C, Jean-Louis M, Saci Z, Mollon J, Schultz LM, Knowles EEM, Cox SR, Porteous D, Davies G, Redmond P, Harris SE, Schumann G, Dumas G, Labbe A, Pausova Z, Paus T, Scherer SW, Sebat J, Almasy L, Glahn DC, Jacquemont S. Huguet G, et al. Among authors: scherer sw. Cell Genom. 2024 Dec 11;4(12):100721. doi: 10.1016/j.xgen.2024.100721. Cell Genom. 2024. PMID: 39667348 Free article.
Evidence generation throughout paediatric medicines life cycle: findings from collaborative work between European Medicines Agency (EMA) and EUnetHTA on use of extrapolation.
Karres D, Pino-Barrio MJ, Benchetrit S, Benda N, Cochat P, Galluzzo S, García-Solís A, Gonzalez S, de Lisa R, Khan D, Lankester R, Lentz F, Martínez-Ortega PA, Montilla S, Morales DR, Tshinanu FM, Sánchez SP, Montero AR, Scherer S, Thomson A, Garrido BT, Umuhire D, Wang S, Bax R, Hedberg N. Karres D, et al. Among authors: scherer s. Br J Pharmacol. 2024 Nov 22. doi: 10.1111/bph.17396. Online ahead of print. Br J Pharmacol. 2024. PMID: 39574299 Review.
1,655 results