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1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.
Sønderby IE, van der Meer D, Moreau C, Kaufmann T, Walters GB, Ellegaard M, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn NB, Blangero J, Boomsma DI, Brodaty H, Brouwer RM, Bülow R, Bøen R, Cahn W, Calhoun VD, Caspers S, Ching CRK, Cichon S, Ciufolini S, Crespo-Facorro B, Curran JE, Dale AM, Dalvie S, Dazzan P, de Geus EJC, de Zubicaray GI, de Zwarte SMC, Desrivieres S, Doherty JL, Donohoe G, Draganski B, Ehrlich S, Eising E, Espeseth T, Fejgin K, Fisher SE, Fladby T, Frei O, Frouin V, Fukunaga M, Gareau T, Ge T, Glahn DC, Grabe HJ, Groenewold NA, Gústafsson Ó, Haavik J, Haberg AK, Hall J, Hashimoto R, Hehir-Kwa JY, Hibar DP, Hillegers MHJ, Hoffmann P, Holleran L, Holmes AJ, Homuth G, Hottenga JJ, Hulshoff Pol HE, Ikeda M, Jahanshad N, Jockwitz C, Johansson S, Jönsson EG, Jørgensen NR, Kikuchi M, Knowles EEM, Kumar K, Le Hellard S, Leu C, Linden DEJ, Liu J, Lundervold A, Lundervold AJ, Maillard AM, Martin NG, Martin-Brevet S, Mather KA, Mathias SR, McMahon KL, McRae AF, Medland SE, Meyer-Lindenberg A, Moberget T, Modenato C, Sánchez JM, Morris DW, Mühleisen TW, Murray RM, Nielsen J, Nordvik JE, Nyberg L, Loohuis LMO, Ophoff RA, Owen MJ, Paus T, Pa… See abstract for full author list ➔ Sønderby IE, et al. Transl Psychiatry. 2021 Mar 22;11(1):182. doi: 10.1038/s41398-021-01213-0. Transl Psychiatry. 2021. PMID: 33753722 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. PLoS Comput Biol. 2010 Apr 22;6(4):e1000752. doi: 10.1371/journal.pcbi.1000752. PLoS Comput Biol. 2010. PMID: 20421931 Free PMC article.
Clinical significance of de novo and inherited copy-number variation.
Vulto-van Silfhout AT, Hehir-Kwa JY, van Bon BW, Schuurs-Hoeijmakers JH, Meader S, Hellebrekers CJ, Thoonen IJ, de Brouwer AP, Brunner HG, Webber C, Pfundt R, de Leeuw N, de Vries BB. Vulto-van Silfhout AT, et al. Hum Mutat. 2013 Dec;34(12):1679-87. doi: 10.1002/humu.22442. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24038936
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. Coe BP, et al. Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14. Nat Genet. 2014. PMID: 25217958 Free PMC article.
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.
Hehir-Kwa JY, Marschall T, Kloosterman WP, Francioli LC, Baaijens JA, Dijkstra LJ, Abdellaoui A, Koval V, Thung DT, Wardenaar R, Renkens I, Coe BP, Deelen P, de Ligt J, Lameijer EW, van Dijk F, Hormozdiari F; Genome of the Netherlands Consortium; Uitterlinden AG, van Duijn CM, Eichler EE, de Bakker PI, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Ye K, Guryev V. Hehir-Kwa JY, et al. Nat Commun. 2016 Oct 6;7:12989. doi: 10.1038/ncomms12989. Nat Commun. 2016. PMID: 27708267 Free PMC article.
Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis.
van Engen-van Grunsven AC, Rabold K, Küsters-Vandevelde HV, Rijntjes J, Djafarihamedani M, Hehir-Kwa JY, Küsters B, Willemsen MA, van der Burgt I, Wesseling P, Blokx WA, Groenen PJ. van Engen-van Grunsven AC, et al. Acta Neuropathol. 2017 Feb;133(2):333-335. doi: 10.1007/s00401-016-1654-x. Epub 2016 Dec 17. Acta Neuropathol. 2017. PMID: 27988846 No abstract available.
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