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Page 1
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Ferreira EA, Veenvliet ARJ, Engelke UFH, Kluijtmans LAJ, Huigen MCDG, Hoegen B, de Boer L, de Vries MC, van Bon BW, Leenders E, Cornelissen EAM, Haaxma CA, Schieving JH, Rubio-Gozalbo ME, Körver-Keularts IMLW, Marten LM, Diegmann S, Mourmans J, Rennings AJM, van Karnebeek CDM, Rodenburg RJ, Coene KLM. Ferreira EA, et al. Among authors: korver keularts imlw. Genet Med. 2023 Jan;25(1):125-134. doi: 10.1016/j.gim.2022.10.002. Epub 2022 Nov 9. Genet Med. 2023. PMID: 36350326 Free article.
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.
Merx J, van Outersterp RE, Engelke UFH, Hendriks V, Wevers RA, Huigen MCDG, Waterval HWAH, Körver-Keularts IMLW, Mecinović J, Rutjes FPJT, Oomens J, Coene KLM, Martens J, Boltje TJ. Merx J, et al. Among authors: korver keularts imlw. Commun Biol. 2022 Sep 21;5(1):997. doi: 10.1038/s42003-022-03960-2. Commun Biol. 2022. PMID: 36131087 Free PMC article.
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation.
Coene KLM, Timmer C, Goorden SMI, Ten Hoedt AE, Kluijtmans LAJ, Janssen MCH, Rennings AJM, Prinsen HCMT, Wamelink MMC, Ruijter GJG, Körver-Keularts IMLW, Heiner-Fokkema MR, van Spronsen FJ, Hollak CE, Vaz FM, Bosch AM, Huigen MCDG. Coene KLM, et al. Among authors: korver keularts imlw. JIMD Rep. 2020 Nov 22;58(1):70-79. doi: 10.1002/jmd2.12186. eCollection 2021 Mar. JIMD Rep. 2020. PMID: 33728249 Free PMC article.
Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS.
Swieringa F, Solari FA, Pagel O, Beck F, Huang J, Feijge MAH, Jurk K, Körver-Keularts IMLW, Mattheij NJA, Faber J, Pohlenz J, Russo A, Stumpel CTRM, Schrander DE, Zieger B, van der Meijden PEJ, Zahedi RP, Sickmann A, Heemskerk JWM. Swieringa F, et al. Among authors: korver keularts imlw. Sci Rep. 2020 Jul 9;10(1):11389. doi: 10.1038/s41598-020-68379-3. Sci Rep. 2020. PMID: 32647264 Free PMC article.
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schlüter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Körver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR. Falkenberg KD, et al. Among authors: korver keularts i. Am J Hum Genet. 2017 Dec 7;101(6):965-976. doi: 10.1016/j.ajhg.2017.11.007. Am J Hum Genet. 2017. PMID: 29220678 Free PMC article.
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls.
van Ginkel WG, Jahja R, Huijbregts SC, Daly A, MacDonald A, De Laet C, Cassiman D, Eyskens F, Körver-Keularts IM, Goyens PJ, McKiernan PJ, van Spronsen FJ. van Ginkel WG, et al. Among authors: korver keularts im. Orphanet J Rare Dis. 2016 Jun 29;11(1):87. doi: 10.1186/s13023-016-0472-5. Orphanet J Rare Dis. 2016. PMID: 27356512 Free PMC article.
Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.
Körver-Keularts IM, de Visser M, Bakker HD, Wanders RJ, Vansenne F, Scholte HR, Dorland L, Nicolaes GA, Spaapen LM, Smeets HJ, Hendrickx AT, van den Bosch BJ. Körver-Keularts IM, et al. JIMD Rep. 2015;22:39-45. doi: 10.1007/8904_2015_409. Epub 2015 Mar 3. JIMD Rep. 2015. PMID: 25732997 Free PMC article.