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126 results

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Page 1
De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
Martin R, Splitt M, Genevieve D, Aten E, Collins A, de Bie CI, Faivre L, Foulds N, Giltay J, Ibitoye R, Joss S, Kennedy J, Kerr B, Kivuva E, Koopmans M, Newbury-Ecob R, Jean-Marçais N, Peeters EAJ, Smithson S, Tomkins S, Tranmauthem F, Piton A, van Haeringen A. Martin R, et al. Among authors: van haeringen a. Eur J Hum Genet. 2019 Nov;27(11):1677-1682. doi: 10.1038/s41431-019-0413-6. Epub 2019 Jun 14. Eur J Hum Genet. 2019. PMID: 31201375 Free PMC article.
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H. Celli J, et al. Among authors: van essen aj, van haeringen a, van bokhoven h, van buggenhout g. Cell. 1999 Oct 15;99(2):143-53. doi: 10.1016/s0092-8674(00)81646-3. Cell. 1999. PMID: 10535733 Free article.
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.
Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Pérez Jurado LA, Delle Chiaie B, Loeys B, Menten B, Oostra A, Verhelst H, Amor DJ, Bruno DL, van Essen AJ, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MC, Pfundt R, Reeser HM, Breuning MH, Ruivenkamp CA. Bijlsma EK, et al. Among authors: van essen aj, van haeringen a. Eur J Med Genet. 2009 Mar-Jun;52(2-3):77-87. doi: 10.1016/j.ejmg.2009.03.006. Epub 2009 Mar 21. Eur J Med Genet. 2009. PMID: 19306953
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.
Gijsbers AC, Lew JY, Bosch CA, Schuurs-Hoeijmakers JH, van Haeringen A, den Hollander NS, Kant SG, Bijlsma EK, Breuning MH, Bakker E, Ruivenkamp CA. Gijsbers AC, et al. Among authors: van haeringen a. Eur J Hum Genet. 2009 Nov;17(11):1394-402. doi: 10.1038/ejhg.2009.74. Epub 2009 May 13. Eur J Hum Genet. 2009. PMID: 19436329 Free PMC article.
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.
de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A, Geneviève D, Goldenberg A, Oufadem M, Manouvrier S, Munnich A, Vidigal JA, Vekemans M, Lyonnet S, Henrion-Caude A, Ventura A, Amiel J. de Pontual L, et al. Among authors: van haeringen a. Nat Genet. 2011 Sep 4;43(10):1026-30. doi: 10.1038/ng.915. Nat Genet. 2011. PMID: 21892160 Free PMC article.
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
Nowakowska BA, de Leeuw N, Ruivenkamp CA, Sikkema-Raddatz B, Crolla JA, Thoelen R, Koopmans M, den Hollander N, van Haeringen A, van der Kevie-Kersemaekers AM, Pfundt R, Mieloo H, van Essen T, de Vries BB, Green A, Reardon W, Fryns JP, Vermeesch JR. Nowakowska BA, et al. Among authors: van der kevie kersemaekers am, van haeringen a, van essen t. Eur J Hum Genet. 2012 Feb;20(2):166-70. doi: 10.1038/ejhg.2011.157. Epub 2011 Sep 14. Eur J Hum Genet. 2012. PMID: 21915152 Free PMC article.
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M. Santen GW, et al. Among authors: van haeringen a, van ommen gj. Nat Genet. 2012 Mar 18;44(4):379-80. doi: 10.1038/ng.2217. Nat Genet. 2012. PMID: 22426309
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.
Almomani R, Sun Y, Aten E, Hilhorst-Hofstee Y, Peeters-Scholte CM, van Haeringen A, Hendriks YM, den Dunnen JT, Breuning MH, Kriek M, Santen GW. Almomani R, et al. Among authors: van haeringen a. Am J Med Genet A. 2013 May;161A(5):973-6. doi: 10.1002/ajmg.a.35808. Epub 2013 Mar 13. Am J Med Genet A. 2013. PMID: 23494849
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium; Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ. Santen GW, et al. Among authors: van minderhout ij, van belzen mj, van der wielen mj, van haeringen a, van bon bw, van der lans ca. Hum Mutat. 2013 Nov;34(11):1519-28. doi: 10.1002/humu.22394. Epub 2013 Aug 30. Hum Mutat. 2013. PMID: 23929686
126 results