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Page 1
Identification of candidate genes for developmental colour agnosia in a single unique family.
Nijboer TCW, Hessel EVS, van Haaften GW, van Zandvoort MJ, van der Spek PJ, Troelstra C, de Kovel CGF, Koeleman BPC, van der Zwaag B, Brilstra EH, Burbach JPH. Nijboer TCW, et al. Among authors: koeleman bpc. PLoS One. 2023 Sep 6;18(9):e0290013. doi: 10.1371/journal.pone.0290013. eCollection 2023. PLoS One. 2023. PMID: 37672513 Free PMC article.
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Among authors: koeleman bpc. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids.
Dirkx N, Weuring WJ, De Vriendt E, Smal N, van de Vondervoort J, van 't Slot R, Koetsier M, Zonnekein N, De Pooter T, Weckhuysen S, Koeleman BPC. Dirkx N, et al. Among authors: koeleman bpc. BMC Biol. 2023 Jul 13;21(1):156. doi: 10.1186/s12915-023-01646-7. BMC Biol. 2023. PMID: 37443005 Free PMC article.
Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.
Boothman I, Clayton LM, McCormack M, Driscoll AM, Stevelink R, Moloney P, Krause R, Kunz WS, Diehl S, O'Brien TJ, Sills GJ, de Haan GJ, Zara F, Koeleman BP, Depondt C, Marson AG, Stefansson H, Stefansson K, Craig J, Johnson MR, Striano P, Lerche H, Furney SJ, Delanty N; Consortium EpiPGX; Sisodiya SM, Cavalleri GL. Boothman I, et al. Front Neurosci. 2023 Sep 8;17:1156362. doi: 10.3389/fnins.2023.1156362. eCollection 2023. Front Neurosci. 2023. PMID: 37790589 Free PMC article.
Somatic variant analysis of resected brain tissue in epilepsy surgery patients.
Sanders MWCB, Koeleman BPC, Brilstra EH, Jansen FE, Baldassari S, Chipaux M, Sim NS, Ko A, Kang HC, Blümcke I, Lal D, Baulac S, Lee JH, Aronica E, Braun KPJ. Sanders MWCB, et al. Among authors: koeleman bpc. Epilepsia. 2024 Dec;65(12):e209-e215. doi: 10.1111/epi.18148. Epub 2024 Oct 26. Epilepsia. 2024. PMID: 39460693 Free PMC article.
Corrigendum to 'Oral microbiota analyses of Saudi sickle cell anemics with dental caries' International Dental Journal, 73/1, February 2023, Pages 144-150.
Alyousef YM, Alonaizan FA, Alsulaiman AA, Abukabbos H, Aldarwish MI, Alali AA, Almasood NN, Vatte C, Cyrus C, Habara AH, Koeleman BPC. Alyousef YM, et al. Among authors: koeleman bpc. Int Dent J. 2023 Jun;73(3):470. doi: 10.1016/j.identj.2023.03.013. Int Dent J. 2023. PMID: 37201962 Free PMC article. No abstract available.
Genome-wide copy number variant screening of Saudi schizophrenia patients reveals larger deletions in cases versus controls.
Abumadini MS, Al Ghamdi KS, Alqahtani AH, Almedallah DK, Callans L, Jarad JA, Cyrus C, Koeleman BPC, Keating BJ, Pankratz N, Al-Ali AK. Abumadini MS, et al. Among authors: koeleman bpc. Front Mol Neurosci. 2023 Feb 10;16:1069375. doi: 10.3389/fnmol.2023.1069375. eCollection 2023. Front Mol Neurosci. 2023. PMID: 36846569 Free PMC article.
210 results