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Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.
Mori M, Clause AR, Truxal K, Hagelstrom RT, Manickam K, Kaler SG, Prasad V, Windster J, Alves MM, Di Lorenzo C. Mori M, et al. Among authors: windster j. JPGN Rep. 2022 Oct 20;3(4):e258. doi: 10.1097/PG9.0000000000000258. eCollection 2022 Nov. JPGN Rep. 2022. PMID: 37168481 Free PMC article.
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
Kuil LE, MacKenzie KC, Tang CS, Windster JD, Le TL, Karim A, de Graaf BM, van der Helm R, van Bever Y, Sloots CEJ, Meeussen C, Tibboel D, de Klein A, Wijnen RMH, Amiel J, Lyonnet S, Garcia-Barcelo MM, Tam PKH, Alves MM, Brooks AS, Hofstra RMW, Brosens E. Kuil LE, et al. Among authors: windster jd. PLoS Genet. 2021 Aug 6;17(8):e1009698. doi: 10.1371/journal.pgen.1009698. eCollection 2021 Aug. PLoS Genet. 2021. PMID: 34358225 Free PMC article.
TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction.
Zada A, Kuil LE, de Graaf BM, Kakiailatu N, Windster JD, Brooks AS, van Slegtenhorst M, de Koning B, Wijnen RMH, Melotte V, Hofstra RMW, Brosens E, Alves MM. Zada A, et al. Among authors: windster jd. Front Cell Dev Biol. 2022 Jul 8;10:901824. doi: 10.3389/fcell.2022.901824. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35874825 Free PMC article.
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
Zada A, Zhao Y, Halim D, Windster J, van der Linde HC, Glodener J, Overkleeft S, de Graaf BM, Verdijk RM, Brooks AS, Shepherd I, Gao Y, Burns AJ, Hofstra RMW, Alves MM. Zada A, et al. Among authors: windster j. Hum Mol Genet. 2023 Jan 1;32(1):151-160. doi: 10.1093/hmg/ddac199. Hum Mol Genet. 2023. PMID: 35981053 Free PMC article.
ATP5PO levels regulate enteric nervous system development in zebrafish, linking Hirschsprung disease to Down Syndrome.
Kuil LE, Chauhan RK, de Graaf BM, Cheng WW, Kakiailatu NJM, Lasabuda R, Verhaeghe C, Windster JD, Schriemer D, Azmani Z, Brooks AS, Edie S, Reeves RH, Eggen BJL, Shepherd IT, Burns AJ, Hofstra RMW, Melotte V, Brosens E, Alves MM. Kuil LE, et al. Among authors: windster jd. Biochim Biophys Acta Mol Basis Dis. 2024 Mar;1870(3):166991. doi: 10.1016/j.bbadis.2023.166991. Epub 2023 Dec 20. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38128843 Free article.
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