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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Dekker J, Schot R, Bongaerts M, de Valk WG, van Veghel-Plandsoen MM, Monfils K, Douben H, Elfferich P, Kasteleijn E, van Unen LMA, Geeven G, Saris JJ, van Ierland Y, Verheijen FW, van der Sterre MLT, Sadeghi Niaraki F, Smits DJ, Huidekoper HH, Williams M, Wilke M, Verhoeven VJM, Joosten M, Kievit AJA, van de Laar IMBH, Hoefsloot LH, Hoogeveen-Westerveld M, Nellist M, Mancini GMS, van Ham TJ. Dekker J, et al. Among authors: van der sterre mlt. Am J Hum Genet. 2023 Feb 2;110(2):251-272. doi: 10.1016/j.ajhg.2022.12.015. Epub 2023 Jan 19. Am J Hum Genet. 2023. PMID: 36669495 Free PMC article.
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Peeters E, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS. Vandervore LV, et al. Among authors: van der sterre mlt. Brain. 2019 Apr 1;142(4):867-884. doi: 10.1093/brain/awz045. Brain. 2019. PMID: 30879067 Free PMC article.
Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.
Verhagen JMA, Burger J, Bekkers JA, den Dekker AT, von der Thüsen JH, Zajec M, Brüggenwirth HT, van der Sterre MLT, van den Born M, Luider TM, van IJcken WFJ, Wessels MW, Essers J, Roos-Hesselink JW, van der Pluijm I, van de Laar IMBH, Brosens E. Verhagen JMA, et al. Among authors: van der sterre mlt. Int J Mol Sci. 2021 Dec 31;23(1):438. doi: 10.3390/ijms23010438. Int J Mol Sci. 2021. PMID: 35008861 Free PMC article.
Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy.
Linnebank M, Kemp S, Wanders RJ, Kleijer WJ, van der Sterre ML, Gärtner J, Fliessbach K, Semmler A, Sokolowski P, Köhler W, Schlegel U, Schmidt S, Klockgether T, Wüllner U. Linnebank M, et al. Neurology. 2006 Feb 14;66(3):442-3. doi: 10.1212/01.wnl.0000196491.42058.6f. Neurology. 2006. PMID: 16476952