Publication & Citation Trends
Publications
48 total
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects PDF
Cited by 63
OpenAlex
α-Linolenic Acid-Rich Diet Influences Microbiota Composition and Villus Morphology of the Mouse Small Intestine PDF
Cited by 40
OpenAlex
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis PDF
Cited by 87
OpenAlex
Microbiome-driven allergic lung inflammation is ameliorated by short-chain fatty acids PDF
Cited by 379
OpenAlex
Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies
Cited by 78
OpenAlex
Phenotype variations of retinal dystrophies caused by mutations in the <i><scp>RLBP</scp>1</i> gene PDF
Cited by 36
OpenAlex
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies PDF
Cited by 246
OpenAlex
Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes PDF
Cited by 107
OpenAlex
Research Topics
Chronic Lymphocytic Leukemia Research
(9)
Lymphoma Diagnosis and Treatment
(5)
Cancer-related Molecular Pathways
(4)
Retinal Development and Disorders
(4)
Genetic factors in colorectal cancer
(4)
Affiliations
Darmstadt University of Applied Sciences
FernUniversität in Hagen
University of British Columbia
Universität Ulm
Johannes Gutenberg University Mainz