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Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M. Acuna-Hidalgo R, et al. Among authors: pfundt r. Am J Hum Genet. 2014 Sep 4;95(3):285-93. doi: 10.1016/j.ajhg.2014.07.012. Epub 2014 Aug 21. Am J Hum Genet. 2014. PMID: 25152457 Free PMC article.
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P. Vissers LE, et al. Among authors: pfundt r. Hum Mol Genet. 2009 Oct 1;18(19):3579-93. doi: 10.1093/hmg/ddp306. Epub 2009 Jul 3. Hum Mol Genet. 2009. PMID: 19578123
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB. van Bon BW, et al. Among authors: pfundt r. Eur J Hum Genet. 2010 Feb;18(2):163-70. doi: 10.1038/ejhg.2009.152. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809484 Free PMC article.
Accurate distinction of pathogenic from benign CNVs in mental retardation.
Hehir-Kwa JY, Wieskamp N, Webber C, Pfundt R, Brunner HG, Gilissen C, de Vries BB, Ponting CP, Veltman JA. Hehir-Kwa JY, et al. Among authors: pfundt r. PLoS Comput Biol. 2010 Apr 22;6(4):e1000752. doi: 10.1371/journal.pcbi.1000752. PLoS Comput Biol. 2010. PMID: 20421931 Free PMC article.
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
Smits P, Saada A, Wortmann SB, Heister AJ, Brink M, Pfundt R, Miller C, Haas D, Hantschmann R, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Smits P, et al. Among authors: pfundt r. Eur J Hum Genet. 2011 Apr;19(4):394-9. doi: 10.1038/ejhg.2010.214. Epub 2010 Dec 29. Eur J Hum Genet. 2011. PMID: 21189481 Free PMC article.
Homozygosity mapping in outbred families with mental retardation.
Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Pfundt R, van Bon BW, de Leeuw N, Kleefstra T, Willemsen MA, van Kessel AG, Brunner HG, Veltman JA, van Bokhoven H, de Brouwer AP, de Vries BB. Schuurs-Hoeijmakers JH, et al. Among authors: pfundt r. Eur J Hum Genet. 2011 May;19(5):597-601. doi: 10.1038/ejhg.2010.167. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248743 Free PMC article.
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rødahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH. Bredrup C, et al. Among authors: pfundt r. Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20. Am J Hum Genet. 2011. PMID: 22019273 Free PMC article.
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.
Jongmans MC, Verwiel ET, Heijdra Y, Vulliamy T, Kamping EJ, Hehir-Kwa JY, Bongers EM, Pfundt R, van Emst L, van Leeuwen FN, van Gassen KL, Geurts van Kessel A, Dokal I, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP. Jongmans MC, et al. Among authors: pfundt r. Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16. Am J Hum Genet. 2012. PMID: 22341970 Free PMC article.
303 results