User profiles for "author:Konrad Platzer"

Konrad Platzer

Institute of Human Genetics, University of Leipzig Medical Center
Verified email at medizin.uni-leipzig.de
Cited by 2362

[HTML][HTML] GRIN1-related neurodevelopmental disorder

K Platzer, JR Lemke - 2021 - europepmc.org
GRIN1-related neurodevelopmental disorder (GRIN1-NDD) is characterized by mild-to-
profound developmental delay/intellectual disability (DD/ID) in all affected individuals. Other …

GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy

JR Lemke, R Hendrickx, K Geider, B Laube… - Annals of …, 2014 - Wiley Online Library
Objective To identify novel epilepsy genes using a panel approach and describe the
functional consequences of mutations. Methods Using a panel approach, we screened 357 …

[HTML][HTML] Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of …

T Eisenberger, C Neuhaus, AO Khan, C Decker… - PloS one, 2013 - journals.plos.org
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of
blindness. They result from mutations in many genes which has long hampered …

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

K Platzer, H Yuan, H Schütz, A Winschel… - Journal of medical …, 2017 - jmg.bmj.com
Background We aimed for a comprehensive delineation of genetic, functional and
phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of …

[PDF][PDF] Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

RL Hood, MA Lines, SM Nikkel… - The American Journal of …, 2012 - cell.com
Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed
osseous maturation, expressive-language deficits, and a distinctive facial appearance …

GRIN2A-related disorders: genotype and functional consequence predict phenotype

V Strehlow, HO Heyne, DRM Vlaskamp, KFM Marwick… - Brain, 2019 - academic.oup.com
Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by
GRIN2A, have been associated with a spectrum of neurodevelopmental disorders with …

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

KM Johannesen, Y Liu, M Koko, CE Gjerulfsen… - Brain, 2022 - academic.oup.com
We report detailed functional analyses and genotype-phenotype correlations in 392
individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ …

[HTML][HTML] 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… - Breast Cancer …, 2018 - Springer
Background Germline mutations in the BRIP1 gene have been described as conferring a
moderate risk for ovarian cancer (OC), while the role of BRIP1 in breast cancer (BC) …

[HTML][HTML] A misplaced lncRNA causes brachydactyly in humans

PG Maass, A Rump, H Schulz… - The Journal of …, 2012 - Am Soc Clin Investig
Translocations are chromosomal rearrangements that are frequently associated with a
variety of disease states and developmental disorders. We identified 2 families with …

Current practice in diagnostic genetic testing of the epilepsies

I Krey, K Platzer, A Esterhuizen, SF Berkovic… - Epileptic …, 2022 - Wiley Online Library
Epilepsy genetics is a rapidly developing field, in which novel disease‐associated genes,
novel mechanisms associated with epilepsy, and precision medicine approaches are …