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Konrad Platzer
Konrad Platzer
Institute of Human Genetics, University of Leipzig Medical Center
Verified email at medizin.uni-leipzig.de - Homepage
Title
Cited by
Cited by
Year
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
2592014
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
2412013
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
2322017
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
1982012
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
1852019
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
1312012
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
1292019
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
1292018
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
972022
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
642015
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
622019
GRIN1-related neurodevelopmental disorder
K Platzer, JR Lemke
GeneReviews®[Internet], 2019
622019
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
572022
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
532019
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
462021
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
402021
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
392022
The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood
JH Döring, A Saffari, T Bast, K Brockmann, L Ehrhardt, W Fazeli, ...
Biomedicines 8 (11), 456, 2020
332020
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
302021
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
302021
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