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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.
Recommendations by the European Network of Paediatric Research at the European Medicines Agency (Enpr-EMA) Working Group on preparedness of clinical trials about paediatric medicines process.
Siapkara A, Fracasso C, Egger GF, Rizzari C, Trasorras CS, Athanasiou D, Turner MA; Working Group Membership. Siapkara A, et al. Arch Dis Child. 2021 Dec;106(12):1149-1154. doi: 10.1136/archdischild-2020-321433. Epub 2021 Apr 15. Arch Dis Child. 2021. PMID: 33858819 Free PMC article. Review.
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.
Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study.
Rehbein T, Purks J, Dilek N, Behrens-Spraggins S, Sowden JE, Eichinger KJ; ACT‐CMT Study Group; Burns J, Pareyson D, Scherer SS, Reilly MM, Shy ME, McDermott MP, Heatwole CR, Herrmann DN. Rehbein T, et al. Among authors: scherer ss. J Peripher Nerv Syst. 2024 Dec;29(4):487-493. doi: 10.1111/jns.12662. Epub 2024 Oct 10. J Peripher Nerv Syst. 2024. PMID: 39390667
The GENESIS database and tools: A decade of discovery in Mendelian genomics.
Danzi MC, Powell E, Rebelo AP, Dohrn MF, Beijer D, Fazal S, Xu IRL, Medina J, Chen S, Arcia de Jesus Y, Schatzman J, Hershberger RE, Saporta M, Baets J, Falk M, Herrmann DN, Scherer SS, Reilly MM, Cortese A, Marques W, Cornejo-Olivas MR, Sanmaneechai O, Kennerson ML, Jordanova A, Silva TYT, Pedroso JL, Schierbaum L, Ebrahimi-Fakhari D, Peric S, Lee YC, Synofzik M, Tekin M, Ravenscroft G, Shy M, Basak N, Schule R, Zuchner S. Danzi MC, et al. Among authors: scherer ss. Exp Neurol. 2024 Dec;382:114978. doi: 10.1016/j.expneurol.2024.114978. Epub 2024 Sep 30. Exp Neurol. 2024. PMID: 39357594 Review.
1,655 results