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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM. Palmer EE, et al. Among authors: saunders c. Mol Psychiatry. 2023 Feb;28(2):668-697. doi: 10.1038/s41380-022-01852-9. Epub 2022 Nov 16. Mol Psychiatry. 2023. PMID: 36385166 Free PMC article.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Quélin C, Faoucher M, Kaplan J, Procopio R, Saunders CJ, Cohen ASA, Lemire G, Sacharow S, O'Donnell-Luria A, Segal RJ, Kianmahd Shamshoni J, Schweitzer D, Ebrahimi-Fakhari D, Monaghan K, Palculict TB, Napier MP, Tao A, Isidor B, Moradkhani K, Reis A, Sticht H; Care4Rare Canada; Chung WK, Zweier C. Schmid CM, et al. Among authors: saunders cj. Genet Med. 2023 Jul;25(7):100839. doi: 10.1016/j.gim.2023.100839. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057675
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H; Medical Genome Initiative Steering Committee. Rehm HL, et al. Among authors: saunders cj. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744
Clinical stringency greatly improves mutation detection in Rett syndrome.
Gauthier J, de Amorim G, Mnatzakanian GN, Saunders C, Vincent JB, Toupin S, Kauffman D, St-Onge J, Laurent S, Macleod PM, Minassian BA, Rouleau GA. Gauthier J, et al. Among authors: saunders c. Can J Neurol Sci. 2005 Aug;32(3):321-6. doi: 10.1017/s0317167100004200. Can J Neurol Sci. 2005. PMID: 16225173
Levelling the playing field through the London Network of the UK clinical trials accelerator platform.
Matthews J, Dobra R, Wilson G, Allen L, Bossley C, Brendell R, Brugha R, Brown D, Brown S, Cadiente S, Cameron L, Davies G, Dawson C, Elborn S, Hughes D, Longmate J, Macedo P, Pappas L, Pao C, Round C, Ruiz G, Saunders C, Shafi N, Simmonds N, Waller M, Watson D, Davies JC. Matthews J, et al. Among authors: saunders c. Contemp Clin Trials Commun. 2024 Apr 26;39:101301. doi: 10.1016/j.conctc.2024.101301. eCollection 2024 Jun. Contemp Clin Trials Commun. 2024. PMID: 38711836 Free PMC article.
Development of Web-Based Education Modules to Improve Carer Engagement in Cancer Care: Design and User Experience Evaluation of the e-Triadic Oncology (eTRIO) Modules for Clinicians, Patients, and Carers.
Laidsaar-Powell R, Giunta S, Butow P, Keast R, Koczwara B, Kay J, Jefford M, Turner S, Saunders C, Schofield P, Boyle F, Yates P, White K, Miller A, Butt Z, Bonnaudet M, Juraskova I. Laidsaar-Powell R, et al. Among authors: saunders c. JMIR Med Educ. 2024 Apr 17;10:e50118. doi: 10.2196/50118. JMIR Med Educ. 2024. PMID: 38630531 Free PMC article.
An online intervention to improve oncology health professional self-efficacy in communicating with carers: Hybrid effectiveness-implementation evaluation of the eTRIO program.
Laidsaar-Powell R, Giunta S, Butow P, Turner S, Costa D, Saunders C, Koczwara B, Kay J, Jefford M, Schofield P, Boyle F, Yates P, White K, Sundaresan P, Varadarajan S, Juraskova I. Laidsaar-Powell R, et al. Among authors: saunders c. Patient Educ Couns. 2024 Jul;124:108251. doi: 10.1016/j.pec.2024.108251. Epub 2024 Mar 16. Patient Educ Couns. 2024. PMID: 38626502
Engaging Long-Term Care Workers in Research: Recruitment Approaches and Participant Characteristics From a Randomized Controlled Trial to Improve COVID-19 Vaccine Confidence.
Johnson LC, Stevens G, Cantrell M, Little NR, Holahan TJ, Saunders CH, Thomeer RP, Sheppard R, Elwyn G, Durand MA. Johnson LC, et al. Among authors: saunders ch. J Am Med Dir Assoc. 2024 Apr 6;25(6):104978. doi: 10.1016/j.jamda.2024.02.016. Online ahead of print. J Am Med Dir Assoc. 2024. PMID: 38588798 Free article.
1,357 results