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Page 1
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA. Jansen S, et al. Among authors: hoischen a. Eur J Hum Genet. 2018 Jan;26(1):54-63. doi: 10.1038/s41431-017-0039-5. Epub 2017 Dec 5. Eur J Hum Genet. 2018. PMID: 29209020 Free PMC article.
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG. Brockschmidt A, et al. Among authors: hoischen a. Hum Mol Genet. 2007 Jun 15;16(12):1488-94. doi: 10.1093/hmg/ddm099. Epub 2007 May 3. Hum Mol Genet. 2007. PMID: 17478476
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: hoischen a. 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
Massively parallel sequencing of ataxia genes after array-based enrichment.
Hoischen A, Gilissen C, Arts P, Wieskamp N, van der Vliet W, Vermeer S, Steehouwer M, de Vries P, Meijer R, Seiqueros J, Knoers NV, Buckley MF, Scheffer H, Veltman JA. Hoischen A, et al. Hum Mutat. 2010 Apr;31(4):494-9. doi: 10.1002/humu.21221. Hum Mutat. 2010. PMID: 20151403
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.
Nikopoulos K, Gilissen C, Hoischen A, van Nouhuys CE, Boonstra FN, Blokland EA, Arts P, Wieskamp N, Strom TM, Ayuso C, Tilanus MA, Bouwhuis S, Mukhopadhyay A, Scheffer H, Hoefsloot LH, Veltman JA, Cremers FP, Collin RW. Nikopoulos K, et al. Among authors: hoischen a. Am J Hum Genet. 2010 Feb 12;86(2):240-7. doi: 10.1016/j.ajhg.2009.12.016. Am J Hum Genet. 2010. PMID: 20159111 Free PMC article.
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA. Hoischen A, et al. Nat Genet. 2010 Jun;42(6):483-5. doi: 10.1038/ng.581. Epub 2010 May 2. Nat Genet. 2010. PMID: 20436468
Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression.
de Bruijn DR, van Dijk AH, Pfundt R, Hoischen A, Merkx GF, Gradek GA, Lybæk H, Stray-Pedersen A, Brunner HG, Houge G. de Bruijn DR, et al. Among authors: hoischen a. Mol Syndromol. 2010 Feb;1(1):46-57. doi: 10.1159/000280290. Epub 2010 Feb 12. Mol Syndromol. 2010. PMID: 20648246 Free PMC article.
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.
Kouwenhoven EN, van Heeringen SJ, Tena JJ, Oti M, Dutilh BE, Alonso ME, de la Calle-Mustienes E, Smeenk L, Rinne T, Parsaulian L, Bolat E, Jurgelenaite R, Huynen MA, Hoischen A, Veltman JA, Brunner HG, Roscioli T, Oates E, Wilson M, Manzanares M, Gómez-Skarmeta JL, Stunnenberg HG, Lohrum M, van Bokhoven H, Zhou H. Kouwenhoven EN, et al. Among authors: hoischen a. PLoS Genet. 2010 Aug 19;6(8):e1001065. doi: 10.1371/journal.pgen.1001065. PLoS Genet. 2010. PMID: 20808887 Free PMC article.
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG. Gilissen C, et al. Among authors: hoischen a. Am J Hum Genet. 2010 Sep 10;87(3):418-23. doi: 10.1016/j.ajhg.2010.08.004. Am J Hum Genet. 2010. PMID: 20817137 Free PMC article.
A de novo paradigm for mental retardation.
Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA. Vissers LE, et al. Among authors: hoischen a. Nat Genet. 2010 Dec;42(12):1109-12. doi: 10.1038/ng.712. Epub 2010 Nov 14. Nat Genet. 2010. PMID: 21076407
252 results