| GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy JR Lemke, R Hendrickx, K Geider, B Laube, M Schwake, RJ Harvey, ... Annals of neurology 75 (1), 147-154, 2014 | 272 | 2014 |
| 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 |
| Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies T Eisenberger, C Neuhaus, AO Khan, C Decker, MN Preising, ... PloS one 8 (11), e78496, 2013 | 252 | 2013 |
| 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 | 215 | 2019 |
| Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ... The American Journal of Human Genetics 90 (2), 308-313, 2012 | 202 | 2012 |
| BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer N Weber-Lassalle, J Hauke, J Ramser, L Richters, E Groß, B Blümcke, ... Breast Cancer Research 20, 1-6, 2018 | 139 | 2018 |
| Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer MA Ferreira, ER Gamazon, F Al-Ejeh, K Aittomäki, IL Andrulis, ... Nature communications 10 (1), 1741, 2019 | 138 | 2019 |
| A misplaced lncRNA causes brachydactyly in humans PG Maass, A Rump, H Schulz, S Stricker, L Schulze, K Platzer, A Aydin, ... The Journal of clinical investigation 122 (11), 3990-4002, 2012 | 136 | 2012 |
| Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications KM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ... Brain 145 (9), 2991-3009, 2022 | 117 | 2022 |
| Current practice in diagnostic genetic testing of the epilepsies I Krey, K Platzer, A Esterhuizen, SF Berkovic, I Helbig, MS Hildebrand, ... Epileptic Disorders 24 (5), 765-786, 2022 | 73 | 2022 |
| GRIN1-related neurodevelopmental disorder K Platzer, JR Lemke GeneReviews®[Internet], 2019 | 70 | 2019 |
| CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum EDH Konrad, N Nardini, A Caliebe, I Nagel, D Young, G Horvath, ... Genetics in Medicine 21 (12), 2723-2733, 2019 | 69 | 2019 |
| Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32 J Beygo, M Elbracht, K De Groot, M Begemann, D Kanber, K Platzer, ... European Journal of Human Genetics 23 (2), 180-188, 2015 | 68 | 2015 |
| De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies K Platzer, H Sticht, SL Edwards, W Allen, KM Angione, MT Bonati, ... The American Journal of Human Genetics 104 (2), 203-212, 2019 | 62 | 2019 |
| Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature D Rots, E Chater-Diehl, AJM Dingemans, SJ Goodman, MT Siu, ... The American Journal of Human Genetics 108 (6), 1053-1068, 2021 | 54 | 2021 |
| Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy PK Ahring, VWY Liao, E Gardella, KM Johannesen, I Krey, KK Selmer, ... Brain 145 (4), 1299-1309, 2022 | 47 | 2022 |
| The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals P Zacher, T Mayer, F Brandhoff, T Bartolomaeus, D Le Duc, M Finzel, ... Genetics in Medicine 23 (8), 1492-1497, 2021 | 43 | 2021 |
| Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations LH Rodan, RC Spillmann, HT Kurata, SM Lamothe, J Maghera, RA Jamra, ... Genetics in medicine 23 (10), 1922-1932, 2021 | 40 | 2021 |
| Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder S Kour, DS Rajan, TR Fortuna, EN Anderson, C Ward, Y Lee, S Lee, ... Nature communications 12 (1), 2558, 2021 | 39 | 2021 |
| Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders F Mochel, A Rastetter, B Ceulemans, K Platzer, S Yang, DN Shinde, ... Brain 143 (12), 3564-3573, 2020 | 36 | 2020 |
