| A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder AE Baum, N Akula, M Cabanero, I Cardona, W Corona, B Klemens, ... Molecular psychiatry 13 (2), 197-207, 2008 | 832 | 2008 |
| Evidence for a relationship between genetic variants at the brain-derived neurotrophic factor (BDNF) locus and major depression J Schumacher, R Abou Jamra, T Becker, S Ohlraun, N Klopp, EB Binder, ... Biological psychiatry 58 (4), 307-314, 2005 | 401 | 2005 |
| Clinical exome sequencing: results from 2819 samples reflecting 1000 families D Trujillano, AM Bertoli-Avella, K Kumar Kandaswamy, MER Weiss, ... European Journal of Human Genetics 25 (2), 176-182, 2017 | 394 | 2017 |
| Examination of G72 and D-amino-acid oxidase as genetic risk factors for schizophrenia and bipolar affective disorder J Schumacher, R Abon Jamra, J Freudenberg, T Becker, S Ohlraun, ... Molecular psychiatry 9 (2), 203-207, 2004 | 391 | 2004 |
| Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q MB McQueen, B Devlin, SV Faraone, VL Nimgaonkar, P Sklar, ... The American Journal of Human Genetics 77 (4), 582-595, 2005 | 306 | 2005 |
| Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia AM Hillmer, S Hanneken, S Ritzmann, T Becker, J Freudenberg, ... The American Journal of Human Genetics 77 (1), 140-148, 2005 | 298 | 2005 |
| De novo variants in neurodevelopmental disorders with epilepsy HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ... Nature genetics 50 (7), 1048-1053, 2018 | 293 | 2018 |
| Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature R Abou Jamra, O Philippe, A Raas-Rothschild, SH Eck, E Graf, R Buchert, ... Am J Hum Genet 88, 788-795, 2011 | 276 | 2011 |
| GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ... Journal of medical genetics 54 (7), 460-470, 2017 | 256 | 2017 |
| Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8 KM Boycott, CL Beaulieu, KD Kernohan, OH Gebril, A Mhanni, ... The American Journal of Human Genetics 97 (6), 886-893, 2015 | 234 | 2015 |
| Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders MS Reuter, H Tawamie, R Buchert, OH Gebril, T Froukh, C Thiel, S Uebe, ... JAMA psychiatry 74 (3), 293-299, 2017 | 232 | 2017 |
| GRIN2A-related disorders: genotype and functional consequence predict phenotype V Strehlow, HO Heyne, DRM Vlaskamp, KFM Marwick, G Rudolf, ... Brain 142 (1), 80-92, 2019 | 214 | 2019 |
| NEK1 mutations cause short-rib polydactyly syndrome type majewski C Thiel, K Kessler, A Giessl, A Dimmler, SA Shalev, S von der Haar, ... The American Journal of Human Genetics 88 (1), 106-114, 2011 | 205 | 2011 |
| Genotype-phenotype studies in bipolar disorder showing association between the DAOA/G30 locus and persecutory delusions: a first step toward a molecular genetic classification … TG Schulze, S Ohlraun, PM Czerski, J Schumacher, L Kassem, ... American Journal of Psychiatry 162 (11), 2101-2108, 2005 | 155 | 2005 |
| Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5′-region are associated with bipolar affective disorder S Cichon, I Winge, M Mattheisen, A Georgi, A Karpushova, J Freudenberg, ... Human molecular genetics 17 (1), 87-97, 2008 | 150 | 2008 |
| Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature NN Hauer, B Popp, E Schoeller, S Schuhmann, KE Heath, A Hisado-Oliva, ... Genetics in Medicine 20 (6), 630-638, 2018 | 147 | 2018 |
| A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency R Buchert, H Tawamie, C Smith, S Uebe, AM Innes, B Al Hallak, AB Ekici, ... The American Journal of Human Genetics 95 (5), 602-610, 2014 | 140 | 2014 |
| Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity R Abou Jamra, S Wohlfart, M Zweier, S Uebe, L Priebe, A Ekici, ... European Journal of Human Genetics 19 (11), 1161-1166, 2011 | 130 | 2011 |
| Loss of function of GALNT2 lowers high-density lipoproteins in humans, nonhuman primates, and rodents SA Khetarpal, KT Schjoldager, C Christoffersen, A Raghavan, ... Cell metabolism 24 (2), 234-245, 2016 | 126 | 2016 |
| Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability L Hansen, H Tawamie, Y Murakami, Y Mang, S ur Rehman, R Buchert, ... The American Journal of Human Genetics 92 (4), 575-583, 2013 | 118 | 2013 |
Heinrich StichtProfessor für Bioinformatik, FAU Erlangen-NürnbergAdresă de e-mail confirmată pe biochem.uni-erlangen.de
