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Page 1
Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J, Zarrei M, Bookman M, Somerville C, Shaath R, Abdi M, Aliyev E, Patel RV, Nalpathamkalam T, Pellecchia G, Hamdan O, Kaur G, Wang Z, MacDonald JR, Wei J, Sung WWL, Lamoureux S, Hoang N, Selvanayagam T, Deflaux N, Geng M, Ghaffari S, Bates J, Young EJ, Ding Q, Shum C, D'Abate L, Bradley CA, Rutherford A, Aguda V, Apresto B, Chen N, Desai S, Du X, Fong MLY, Pullenayegum S, Samler K, Wang T, Ho K, Paton T, Pereira SL, Herbrick JA, Wintle RF, Fuerth J, Noppornpitak J, Ward H, Magee P, Al Baz A, Kajendirarajah U, Kapadia S, Vlasblom J, Valluri M, Green J, Seifer V, Quirbach M, Rennie O, Kelley E, Masjedi N, Lord C, Szego MJ, Zawati MH, Lang M, Strug LJ, Marshall CR, Costain G, Calli K, Iaboni A, Yusuf A, Ambrozewicz P, Gallagher L, Amaral DG, Brian J, Elsabbagh M, Georgiades S, Messinger DS, Ozonoff S, Sebat J, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Kushki A, Frazier TW, Vorstman JAS, Fakhro KA, Fernandez BA, Lewis MES, Weksberg R, Fiume M, Yuen RKC, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW. Trost B, et al. Among authors: shum c. Cell. 2022 Nov 10;185(23):4409-4427.e18. doi: 10.1016/j.cell.2022.10.009. Cell. 2022. PMID: 36368308 Free PMC article.
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, Reuter MS, MacDonald JR, Ko SY, Frankland PW, 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, Russell BE, Nelson SF, Zara F, Scherer SW. Scala M, et al. Among authors: shum c. medRxiv [Preprint]. 2023 Dec 27:2023.12.21.23300383. doi: 10.1101/2023.12.21.23300383. medRxiv. 2023. PMID: 38234782 Free PMC article. Preprint.
Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs.
Shum C, Han SY, Thiruvahindrapuram B, Wang Z, de Rijke J, Zhang B, Sundberg M, Chen C, Buttermore ED, Makhortova N, Howe J, Sahin M, Scherer SW. Shum C, et al. Comput Struct Biotechnol J. 2023 Dec 29;23:638-647. doi: 10.1016/j.csbj.2023.12.036. eCollection 2024 Dec. Comput Struct Biotechnol J. 2023. PMID: 38283851 Free PMC article.
Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons.
Shum C, Hedges EC, Allison J, Lee YB, Arias N, Cocks G, Chandran S, Ruepp MD, Shaw CE, Nishimura AL. Shum C, et al. Stem Cell Reports. 2024 Feb 13;19(2):187-195. doi: 10.1016/j.stemcr.2023.12.007. Epub 2024 Jan 18. Stem Cell Reports. 2024. PMID: 38242131 Free PMC article.
Global groundwater droughts are more severe than they appear in hydrological models: An investigation through a Bayesian merging of GRACE and GRACE-FO data with a water balance model.
Forootan E, Mehrnegar N, Schumacher M, Schiettekatte LAR, Jagdhuber T, Farzaneh S, van Dijk AIJM, Shamsudduha M, Shum CK. Forootan E, et al. Among authors: shum ck. Sci Total Environ. 2024 Feb 20;912:169476. doi: 10.1016/j.scitotenv.2023.169476. Epub 2023 Dec 23. Sci Total Environ. 2024. PMID: 38145671 Free article.
Cortical Mechanisms Underlying Immersive Interactive Virtual Walking Treatment for Amelioration of Neuropathic Pain after Spinal Cord Injury: Findings from a Preliminary Investigation of Thalamic Inhibitory Function.
Gustin SM, Bolding M, Willoughby W, Anam M, Shum C, Rumble D, Mark VW, Mitchell L, Cowan RE, Richardson E, Richards S, Trost Z. Gustin SM, et al. Among authors: shum c. J Clin Med. 2023 Sep 4;12(17):5743. doi: 10.3390/jcm12175743. J Clin Med. 2023. PMID: 37685810 Free PMC article.
Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons.
Faheem M, Deneault E, Alexandrova R, Rodrigues DC, Pellecchia G, Shum C, Zarrei M, Piekna A, Wei W, Howe JL, Thiruvahindrapuram B, Lamoureux S, Ross PJ, Bradley CA, Ellis J, Scherer SW. Faheem M, et al. Among authors: shum c. BMC Med Genomics. 2023 Jan 12;16(1):5. doi: 10.1186/s12920-022-01425-3. BMC Med Genomics. 2023. PMID: 36635662 Free PMC article.
138 results