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Institute of Human Genetics
Institute of Human Genetics
Sonstige NamenInstitut für Humangenetik
Bestätigte E-Mail-Adresse bei medizin.uni-leipzig.de - Startseite
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
51722004
International incidence of childhood cancer, 2001–10: a population-based registry study
E Steliarova-Foucher, M Colombet, LAG Ries, F Moreno, A Dolya, F Bray, ...
The Lancet Oncology 18 (6), 719-731, 2017
16732017
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
8052008
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
S Endele, G Rosenberger, K Geider, B Popp, C Tamer, I Stefanova, ...
Nature genetics 42 (11), 1021-1026, 2010
5562010
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
5102017
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
5032013
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
3932012
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
3932005
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
3592017
Onto better TRAILs for cancer treatment
D de Miguel, J Lemke, A Anel, H Walczak, L Martinez-Lostao
Cell Death & Differentiation 23 (5), 733-747, 2016
3572016
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
3162014
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ...
Neurology 86 (10), 954-962, 2016
3082016
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
2982005
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
TR Rebbeck, TM Friebel, E Friedman, U Hamann, D Huo, A Kwong, ...
Human mutation 39 (5), 593-620, 2018
2882018
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
2862015
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability
J Hoyer, AB Ekici, S Endele, B Popp, C Zweier, A Wiesener, E Wohlleber, ...
The American Journal of Human Genetics 90 (3), 565-572, 2012
2852012
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
2851999
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
S Syrbe, U Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ...
Nature genetics 47 (4), 393-399, 2015
2822015
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
2822005
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
2602018
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