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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ... Molecular psychiatry 21 (1), 133-148, 2016 | 311 | 2016 |
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder V Cantagrel, DJ Lefeber, BG Ng, Z Guan, JL Silhavy, SL Bielas, L Lehle, ... Cell 142 (2), 203-217, 2010 | 309 | 2010 |
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability T Kleefstra, JM Kramer, K Neveling, MH Willemsen, TS Koemans, ... The American Journal of Human Genetics 91 (1), 73-82, 2012 | 285 | 2012 |
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly M Giannandrea, V Bianchi, ML Mignogna, A Sirri, S Carrabino, E d'Elia, ... The American Journal of Human Genetics 86 (2), 185-195, 2010 | 267 | 2010 |
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome DA Koolen, JM Kramer, K Neveling, WM Nillesen, HL Moore-Barton, ... Nature genetics 44 (6), 639-641, 2012 | 250 | 2012 |
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness SB Wortmann, FM Vaz, T Gardeitchik, LELM Vissers, GH Renkema, ... Nature genetics 44 (7), 797-802, 2012 | 227 | 2012 |
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin KLM Coene, R Roepman, D Doherty, B Afroze, HY Kroes, SJF Letteboer, ... The American Journal of Human Genetics 85 (4), 465-481, 2009 | 220 | 2009 |
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome T Kleefstra, M Smidt, MJG Banning, AR Oudakker, H Van Esch, ... Journal of medical genetics 42 (4), 299-306, 2005 | 213 | 2005 |
Chromosome 1p21. 3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability MH Willemsen, A Vallès, LAMH Kirkels, M Mastebroek, NO Loohuis, ... Journal of medical genetics 48 (12), 810-818, 2011 | 184 | 2011 |
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders Z Iqbal, G Vandeweyer, M van der Voet, AM Waryah, MY Zahoor, ... Human molecular genetics 22 (10), 1960-1970, 2013 | 179 | 2013 |
Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia JHM Schuurs-Hoeijmakers, MT Geraghty, EJ Kamsteeg, S Ben-Salem, ... The American Journal of Human Genetics 91 (6), 1073-1081, 2012 | 176 | 2012 |
Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation DJ Lefeber, APM de Brouwer, E Morava, M Riemersma, ... PLoS genetics 7 (12), e1002427, 2011 | 170 | 2011 |
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy D Lugtenberg, T Kleefstra, AR Oudakker, WM Nillesen, HG Yntema, ... European Journal of Human Genetics 17 (4), 444-453, 2009 | 167 | 2009 |
TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function F Gómez-Herreros, JHM Schuurs-Hoeijmakers, M McCormack, ... Nature genetics 46 (5), 516-521, 2014 | 157 | 2014 |
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia S Vermeer, A Hoischen, RPP Meijer, C Gilissen, K Neveling, N Wieskamp, ... The American Journal of Human Genetics 87 (6), 813-819, 2010 | 157 | 2010 |
NANS-mediated synthesis of sialic acid is required for brain and skeletal development CDM Van Karnebeek, L Bonafé, XY Wen, M Tarailo-Graovac, S Balzano, ... Nature Genetics 48 (7), 777-784, 2016 | 154 | 2016 |
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency JM van de Kamp, OT Betsalel, S Mercimek-Mahmutoglu, L Abulhoul, ... Journal of medical genetics 50 (7), 463-472, 2013 | 151 | 2013 |
Clinical significance of de novo and inherited copy‐number variation AT Vulto‐van Silfhout, JY Hehir‐Kwa, BWM van Bon, ... Human mutation 34 (12), 1679-1687, 2013 | 141 | 2013 |
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, DL Polla, Y Song, ... Molecular psychiatry 22 (11), 1604-1614, 2017 | 138 | 2017 |