Korbinian M. Riedhammer
Boston Children's Hospital(US)University of Bonn(DE)TUM Klinikum(DE)
Publications by Year
Research Areas
Renal Diseases and Glomerulopathies, Genomics and Rare Diseases, Renal and related cancers, Genetics and Neurodevelopmental Disorders, Cell Adhesion Molecules Research
Most-Cited Works
- → Monogenic variants in dystonia: an exome-wide sequencing study(2020)206 cited
- → De novo variants in neurodevelopmental disorders—experiences from a tertiary care center(2021)115 cited
- → Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures(2019)73 cited
- → Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients(2019)69 cited
- → Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome(2020)69 cited
- → New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics(2020)59 cited
- → Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency(2022)58 cited
- → Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies(2020)48 cited
- → Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations(2019)48 cited
- → Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy(2022)41 cited