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Page 1
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network; Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study; Pe… See abstract for full author list ➔ Küry S, et al. Among authors: van woerden gm, van haeringen a, van gassen kli, van bon bwm. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003. Am J Hum Genet. 2017. PMID: 29100089 Free PMC article.
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.
X-chromosome duplications in males with mental retardation: pathogenic or benign variants?
Gijsbers AC, den Hollander NS, Helderman-van de Enden AT, Schuurs-Hoeijmakers JH, Vijfhuizen L, Bijlsma EK, van Haeringen A, Hansson KB, Bakker E, Breuning MH, Ruivenkamp CA. Gijsbers AC, et al. Among authors: van haeringen a. Clin Genet. 2011 Jan;79(1):71-8. doi: 10.1111/j.1399-0004.2010.01438.x. Clin Genet. 2011. PMID: 20486941
Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.
Gijsbers AC, Bosch CA, Dauwerse JG, Giromus O, Hansson K, Hilhorst-Hofstee Y, Kriek M, van Haeringen A, Bijlsma EK, Bakker E, Breuning MH, Ruivenkamp CA. Gijsbers AC, et al. Among authors: van haeringen a. Eur J Med Genet. 2010 Sep-Oct;53(5):227-33. doi: 10.1016/j.ejmg.2010.06.003. Epub 2010 Jun 11. Eur J Med Genet. 2010. PMID: 20542150
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Puseljić S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V. Malan V, et al. Among authors: van haeringen a. Am J Hum Genet. 2010 Aug 13;87(2):189-98. doi: 10.1016/j.ajhg.2010.07.001. Epub 2010 Jul 30. Am J Hum Genet. 2010. PMID: 20673863 Free PMC article.
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D. Dauwerse JG, et al. Among authors: van haeringen a. Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5. Nat Genet. 2011. PMID: 21131976
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
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.
Hilhorst-Hofstee Y, Scholte AJ, Rijlaarsdam ME, van Haeringen A, Kroft LJ, Reijnierse M, Ruivenkamp CA, Versteegh MI, Pals G, Breuning MH. Hilhorst-Hofstee Y, et al. Among authors: van haeringen a. Clin Genet. 2013 Apr;83(4):337-44. doi: 10.1111/j.1399-0004.2012.01931.x. Epub 2012 Aug 21. Clin Genet. 2013. PMID: 22803640
125 results