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Page 1
Using the phenome and genome to improve genetic diagnosis for deafness.
Eppsteiner RW, Shearer AE, Hildebrand MS, Taylor KR, Deluca AP, Scherer S, Huygen P, Scheetz TE, Braun TA, Casavant TL, Smith RJ. Eppsteiner RW, et al. Among authors: scherer s. Otolaryngol Head Neck Surg. 2012 Nov;147(5):975-7. doi: 10.1177/0194599812454271. Epub 2012 Jul 11. Otolaryngol Head Neck Surg. 2012. PMID: 22785243 Free PMC article. No abstract available.
Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.
Eppsteiner RW, Shearer AE, Hildebrand MS, Deluca AP, Ji H, Dunn CC, Black-Ziegelbein EA, Casavant TL, Braun TA, Scheetz TE, Scherer SE, Hansen MR, Gantz BJ, Smith RJ. Eppsteiner RW, et al. Among authors: scherer se. Hear Res. 2012 Oct;292(1-2):51-8. doi: 10.1016/j.heares.2012.08.007. Epub 2012 Aug 28. Hear Res. 2012. PMID: 22975204 Free PMC article.
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).
Zheng J, Miller KK, Yang T, Hildebrand MS, Shearer AE, DeLuca AP, Scheetz TE, Drummond J, Scherer SE, Legan PK, Goodyear RJ, Richardson GP, Cheatham MA, Smith RJ, Dallos P. Zheng J, et al. Among authors: scherer se. Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4218-23. doi: 10.1073/pnas.1005842108. Epub 2011 Feb 22. Proc Natl Acad Sci U S A. 2011. PMID: 21368133 Free PMC article.
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.
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
1,655 results