User profiles for "author:Konrad Platzer"
Konrad PlatzerInstitute of Human Genetics, University of Leipzig Medical Center Verified email at medizin.uni-leipzig.de Cited by 2362 |
[HTML][HTML] GRIN1-related neurodevelopmental disorder
GRIN1-related neurodevelopmental disorder (GRIN1-NDD) is characterized by mild-to-
profound developmental delay/intellectual disability (DD/ID) in all affected individuals. Other …
profound developmental delay/intellectual disability (DD/ID) in all affected individuals. Other …
GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy
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 …
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 …
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
Background We aimed for a comprehensive delineation of genetic, functional and
phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of …
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 …
osseous maturation, expressive-language deficits, and a distinctive facial appearance …
GRIN2A-related disorders: genotype and functional consequence predict phenotype
Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by
GRIN2A, have been associated with a spectrum of neurodevelopmental disorders with …
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+ …
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) …
moderate risk for ovarian cancer (OC), while the role of BRIP1 in breast cancer (BC) …
[HTML][HTML] A misplaced lncRNA causes brachydactyly in humans
Translocations are chromosomal rearrangements that are frequently associated with a
variety of disease states and developmental disorders. We identified 2 families with …
variety of disease states and developmental disorders. We identified 2 families with …
Current practice in diagnostic genetic testing of the epilepsies
Epilepsy genetics is a rapidly developing field, in which novel disease‐associated genes,
novel mechanisms associated with epilepsy, and precision medicine approaches are …
novel mechanisms associated with epilepsy, and precision medicine approaches are …