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Page 1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: van haaften g. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing.
Stangl C, de Blank S, Renkens I, Westera L, Verbeek T, Valle-Inclan JE, González RC, Henssen AG, van Roosmalen MJ, Stam RW, Voest EE, Kloosterman WP, van Haaften G, Monroe GR. Stangl C, et al. Among authors: van haaften g, van roosmalen mj. Nat Commun. 2020 Jun 5;11(1):2861. doi: 10.1038/s41467-020-16641-7. Nat Commun. 2020. PMID: 32504042 Free PMC article.
In Vitro Systematic Drug Testing Reveals Carboplatin, Paclitaxel, and Alpelisib as a Potential Novel Combination Treatment for Adult Granulosa Cell Tumors.
Roze J, Sendino Garví E, Stelloo E, Stangl C, Sereno F, Duran K, Groeneweg J, Paijens S, Nijman H, van Meurs H, van Lonkhuijzen L, Piek J, Lok C, Jonges G, Witteveen P, Verheijen R, van Haaften G, Zweemer R, Monroe G. Roze J, et al. Among authors: van lonkhuijzen l, van haaften g, van meurs h. Cancers (Basel). 2021 Jan 20;13(3):368. doi: 10.3390/cancers13030368. Cancers (Basel). 2021. PMID: 33498451 Free PMC article.
Genetic obesity: next-generation sequencing results of 1230 patients with obesity.
Kleinendorst L, Massink MPG, Cooiman MI, Savas M, van der Baan-Slootweg OH, Roelants RJ, Janssen ICM, Meijers-Heijboer HJ, Knoers NVAM, Ploos van Amstel HK, van Rossum EFC, van den Akker ELT, van Haaften G, van der Zwaag B, van Haelst MM. Kleinendorst L, et al. Among authors: van rossum efc, van haelst mm, van der zwaag b, van haaften g, van der baan slootweg oh, van den akker elt. J Med Genet. 2018 Sep;55(9):578-586. doi: 10.1136/jmedgenet-2018-105315. Epub 2018 Jul 3. J Med Genet. 2018. PMID: 29970488
[Genetic obesity: new diagnostic options].
de Vries TI, Alsters SI, Kleinendorst L, van Haaften G, van der Zwaag B, Van Haelst MM. de Vries TI, et al. Among authors: van haelst mm, van der zwaag b, van haaften g. Ned Tijdschr Geneeskd. 2017;161:D688. Ned Tijdschr Geneeskd. 2017. PMID: 28351432 Dutch.
Joubert syndrome: genotyping a Northern European patient cohort.
Kroes HY, Monroe GR, van der Zwaag B, Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ, Kloosterman WP, Giles RH, Knoers NV, van Haaften G. Kroes HY, et al. Among authors: van der zwaag b, van haaften g, van roosmalen mj. Eur J Hum Genet. 2016 Feb;24(2):214-20. doi: 10.1038/ejhg.2015.84. Epub 2015 Apr 29. Eur J Hum Genet. 2016. PMID: 25920555 Free PMC article.
Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations.
Ciapaite J, Albersen M, Savelberg SMC, Bosma M, Tessadori F, Gerrits J, Lansu N, Zwakenberg S, Bakkers JPW, Zwartkruis FJT, van Haaften G, Jans JJ, Verhoeven-Duif NM. Ciapaite J, et al. Among authors: van haaften g. Biochim Biophys Acta Mol Basis Dis. 2020 Mar 1;1866(3):165607. doi: 10.1016/j.bbadis.2019.165607. Epub 2019 Nov 21. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31759955 Free article.
93 results