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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: van haaften gw. PLoS One. 2023 Sep 6;18(9):e0290013. doi: 10.1371/journal.pone.0290013. eCollection 2023. PLoS One. 2023. PMID: 37672513 Free PMC article.
Development of the Dutch translational knowledge agenda for inherited metabolic diseases.
Hieltjes IJ, van der Lee JH, Groenendijk MC, van Haaften G, van Hasselt PM, Lunsing RJ, van Prooijen GJJ, de Ruiter EM, van Spronsen FJ, Verhoeven-Duif NM, de Vreugd A, Wagenmakers M, Zweers H, Dekker H, Waterham HR, van Karnebeek CD, Wanders RJA, Wevers RA. Hieltjes IJ, et al. JIMD Rep. 2024 Dec 22;66(1):e12455. doi: 10.1002/jmd2.12455. eCollection 2025 Jan. JIMD Rep. 2024. PMID: 39723120 Free PMC article.
WEE1 inhibitor adavosertib in combination with carboplatin in advanced TP53 mutated ovarian cancer: A biomarker-enriched phase II study.
Embaby A, Kutzera J, Geenen JJ, Pluim D, Hofland I, Sanders J, Lopez-Yurda M, Beijnen JH, Huitema ADR, Witteveen PO, Steeghs N, van Haaften G, van Vugt MATM, de Ridder J, Opdam FL. Embaby A, et al. Gynecol Oncol. 2023 Jul;174:239-246. doi: 10.1016/j.ygyno.2023.05.063. Epub 2023 May 24. Gynecol Oncol. 2023. PMID: 37236033 Clinical Trial.
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Muffels IJJ, Schene IF, Rehmann H, Massink MPG, van der Wal MM, Bauder C, Labeur M, Armando NG, Lequin MH, Houben ML, Giltay JC, Haitjema S, Huisman A, Vansenne F, Bluvstein J, Pappas J, Shailee LV, Zarate YA, Mokry M, van Haaften GW, Nieuwenhuis EES, Refojo D, van Wijk F, Fuchs SA, van Hasselt PM. Muffels IJJ, et al. Among authors: van haaften gw. Am J Hum Genet. 2023 Jan 5;110(1):146-160. doi: 10.1016/j.ajhg.2022.12.003. Am J Hum Genet. 2023. PMID: 36608681 Free PMC article.
Recurrent Respiratory Syncytial Virus Infection in a CD14-Deficient Patient.
Besteman SB, Phung E, Raeven HHM, Amatngalim GD, Rumpret M, Crabtree J, Schepp RM, Rodenburg LW, Siemonsma SG, Verleur N, van Slooten R, Duran K, van Haaften GW, Beekman JM, Chang LA, Meyaard L, van der Bruggen T, Berbers GAM, Derksen N, Nierkens S, Morabito KM, Ruckwardt TJ, Kurt-Jones EA, Golenbock D, Graham BS, Bont LJ. Besteman SB, et al. Among authors: van haaften gw. J Infect Dis. 2022 Aug 24;226(2):258-269. doi: 10.1093/infdis/jiac114. J Infect Dis. 2022. PMID: 35429403 Free PMC article.
FOXL2 and TERT promoter mutation detection in circulating tumor DNA of adult granulosa cell tumors as biomarker for disease monitoring.
Groeneweg JW, Roze JF, Peters EDJ, Sereno F, Brink AGJ, Paijens ST, Nijman HW, van Meurs HS, van Lonkhuijzen LRCW, Piek JMJ, Lok CAR, Monroe GR, van Haaften GW, Zweemer RP. Groeneweg JW, et al. Among authors: van haaften gw. Gynecol Oncol. 2021 Aug;162(2):413-420. doi: 10.1016/j.ygyno.2021.05.027. Epub 2021 Jun 1. Gynecol Oncol. 2021. PMID: 34083028 Free article.
Natural helix 9 mutants of PPARγ differently affect its transcriptional activity.
Broekema MF, Massink MPG, Donato C, de Ligt J, Schaarschmidt J, Borgman A, Schooneman MG, Melchers D, Gerding MN, Houtman R, Bonvin AMJJ, Majithia AR, Monajemi H, van Haaften GW, Soeters MR, Kalkhoven E. Broekema MF, et al. Among authors: van haaften gw. Mol Metab. 2019 Feb;20:115-127. doi: 10.1016/j.molmet.2018.12.005. Epub 2018 Dec 16. Mol Metab. 2019. PMID: 30595551 Free PMC article.
A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.
Broekema MF, Massink MPG, De Ligt J, Stigter ECA, Monajemi H, De Ridder J, Burgering BMT, van Haaften GW, Kalkhoven E. Broekema MF, et al. Among authors: van haaften gw. Front Physiol. 2018 Sep 26;9:1363. doi: 10.3389/fphys.2018.01363. eCollection 2018. Front Physiol. 2018. PMID: 30319454 Free PMC article.
Exogenous anandamide protects rat brain against acute neuronal injury in vivo.
van der Stelt M, Veldhuis WB, van Haaften GW, Fezza F, Bisogno T, Bar PR, Veldink GA, Vliegenthart JF, Di Marzo V, Nicolay K. van der Stelt M, et al. Among authors: van haaften gw. J Neurosci. 2001 Nov 15;21(22):8765-71. doi: 10.1523/JNEUROSCI.21-22-08765.2001. J Neurosci. 2001. PMID: 11698588 Free PMC article.