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Authors: Ilse meerschaut, victoria bordon, catharina Dhooge, patricia delbeke, arnaud v vanlander, amos Simon, christoph Klein, r frank kooy, raz somech, bert Callewaert Am j med Genet A 2015 Dec 11;167A(12 3214-8. Epub 2015 Sep. Center for Medical Genetics, Ghent University hospital, Ghent, belgium. Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities. Authors: Anke van Dijck, ilse m van der Werf, edwin reyniers, stefaan Scheers, meron azage, kiana siefkas, nathalie van der aa, amy lacroix, jill Rosenfeld, bob Argiropoulos, kellie davis, a micheil Innes, heather c mefford, geert Mortier, marije meuwissen, r frank kooy eur j med. Epub 2015 Aug. Department of Medical Genetics, University of Antwerp, belgium. Mutations in ddx3X Are a common cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Electronic address: Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Authors: Holly tessman, bo xiong, bradley p coe, tianyun Wang, kendra hoekzema, michaela fenckova, malin kvarnung, jennifer Gerdts, sandy Trinh, nele cosemans, alvleesklier laura vives, janice lin, tychele n turner, gijs Santen, claudia ruivenkamp, marjolein Kriek, arie van haeringen, emmelien Aten, kathryn Friend, jan liebelt, christopher. Epub 2017 Feb. Mutations in two large pedigrees highlight the role of znf711 in X-linked intellectual disability. Authors: Ilse m van der Werf, anke van Dijck, edwin reyniers, céline helsmoortel, ajay anand Kumar, vera m kalscheuer, arjan Pm de Brouwer, tjitske kleefstra, hans van bokhoven, geert zonder Mortier, sandra janssens, geert Vandeweyer, r frank kooy gene 2017 Mar 16;605:92-98.

Department of Medical Genetics, University of Antwerp and University hospital Antwerp, Antwerp, belgium. Electronic address: Clinical delineation of the pacs1-related syndrome-report on 19 patients. Authors: Janneke chuurs-hoeijmakers, megan l landsverk, nicola foulds, mary k kukolich, ralitza h gavrilova, stephanie greville-heygate, andrea hanson-Kahn, jonathan a bernstein, jennifer Glass, david Chitayat, thomas a burrow, ammar Husami, kathleen Collins, katie wusik, nathalie van der aa, frank kooy, kate tatton Brown, dorothea gadzicki. Epub 2016 Feb. Department of Human Genetics, radboud University medical Center, nijmegen, the netherlands. Severe congenital neutropenia with neurological impairment due to a homozygous vps45. E238K mutation: A case report suggesting a genotype-phenotype correlation.

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Department of Genome Sciences, University of Washington, seattle, washington, usa. A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile x syndrome. Authors: Andrew Ligsay, anke van Dijck, danh v nguyen, reymundo lozano, yanjun Chen, erika s bickel, david Hessl, andrea schneider, kathleen Angkustsiri, flora tassone, berten ceulemans, r frank kooy, randi j hagerman j neurodev disord 2017 Aug 2;9(1. Epub 2017 Aug. Medical Investigation of neurodevelopmental ananas Disorders (mind) Institute, university of California, davis Medical Center, 2825 50th Street, sacramento, ca, 95817, usa. Impaired gabaergic inhibition in the hippocampus of Fmr1 knockout mice. Authors: Victor Sabanov, sien Braat, laura d'andrea, rob Willemsen, shimriet zeidler, liesbeth rooms, claudia bagni, r frank kooy, detlef Balschun neuropharmacology 2017 Apr 21;116:71-81. Epub 2016 Dec. Laboratory of biological Psychology, ku leuven, leuven, belgium.

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Mind institute, university of California davis, sacramento, ca, usa; Department of biochemistry and Molecular Medicine, university of California, davis, sacramento, ca, usa. Electronic address: Fragile x syndrome. Authors: Randi j hagerman, elizabeth Berry-Kravis, heather Cody hazlett, donald b bailey, herve moine, r frank kooy, flora tassone, ilse gantois, nahum Sonenberg, jean louis Mandel, paul j hagerman Nat rev dis Primers 2017 Sep 29;3:17065. Epub 2017 Sep. Mind institute, uc davis health, University of California, davis, 2826 50th Street, sacramento, california 95817, usa. Hotspots of missense mutation identify weghalen neurodevelopmental disorder genes and functional domains. Authors: Madeleine r geisheker, gabriel heymann, tianyun Wang, bradley p coe, tychele n turner, holly tessman, kendra hoekzema, malin kvarnung, marie shaw, kathryn Friend, jan liebelt, christopher Barnett, elizabeth m thompson, eric haan, hui guo, britt-Marie anderlid, ann Nordgren, anna lindstrand, geert Vandeweyer, antonino Alberti. Epub 2017 Jun.

Truncating Variants in naa15 Are Associated with Variable levels of Intellectual Disability, autism Spectrum Disorder, and Congenital Anomalies. Authors: Hanyin Cheng, avinash v dharmadhikari, sylvia varland, ning ma, deepti domingo, robert Kleyner, alan f rope, margaret yoon, asbjørg Stray-pedersen, jennifer e posey, sarah r crews, mohammad k eldomery, zeynep Coban Akdemir, andrea m lewis, vernon r sutton, jill a rosenfeld, erin Conboy, katherine. Epub 2018 Apr. Stanley cholesterol institute for Cognitive genomics, 1Bungtown road, cold Spring Harbor Laboratory, ny 11724, usa. Electronic address: A higher rare cnv burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome. Eur j med Genet 2018 Apr 28;61(4 209-212. Epub 2017 nov.

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