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Johannes Lemke
Johannes Lemke
Institute of Human Genetics, University of Leipzig, Germany
Bestätigte E-Mail-Adresse bei medizin.uni-leipzig.de
Titel
Zitiert von
Zitiert von
Jahr
Finishing the euchromatic sequence of the human genome
International Human Genome Sequencing Consortium
Nature 431 (7011), 931-945, 2004
53062004
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ...
Brain 140 (5), 1316-1336, 2017
5472017
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
JR Lemke, D Lal, EM Reinthaler, I Steiner, M Nothnagel, M Alber, ...
Nature genetics 45 (9), 1067-1072, 2013
5212013
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ...
The American Journal of Human Genetics 95 (4), 360-370, 2014
4472014
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
JR Lemke, E Riesch, T Scheurenbrand, M Schubach, C Wilhelm, I Steiner, ...
Epilepsia 53 (8), 1387-1398, 2012
4072012
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ...
Neurology 86 (10), 954-962, 2016
3222016
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
3002015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
S Syrbe, UBS Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ...
Nature genetics 47 (4), 393-399, 2015
2932015
High resolution multicolor-banding: a new technique for refined FISH analysis of human chromosomes
I Chudoba, A Plesch, T Lörch, J Lemke, U Claussen, G Senger
Cytogenetics and cell genetics 84 (3-4), 156-160, 1999
2881999
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
2802018
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
2622014
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome
A Suls, JA Jaehn, A Kecskés, Y Weber, S Weckhuysen, DC Craiu, ...
The American Journal of Human Genetics 93 (5), 967-975, 2013
2602013
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
2512019
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
C Nava, C Dalle, A Rastetter, P Striano, CGF De Kovel, R Nabbout, ...
Nature genetics 46 (6), 640-645, 2014
2492014
Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients
S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster, H Hjalgrim, ...
Neurology 81 (19), 1697-1703, 2013
2422013
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
2402017
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
J Schubert, A Siekierska, M Langlois, P May, C Huneau, F Becker, ...
Nature genetics 46 (12), 1327-1332, 2014
2262014
The landscape of epilepsy-related GATOR1 variants
S Baldassari, F Picard, NE Verbeek, M van Kempen, EH Brilstra, G Lesca, ...
Genetics in Medicine 21 (2), 398-408, 2019
2062019
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
1982019
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz, J Hentschel, ...
Neurology 86 (23), 2171-2178, 2016
1952016
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