Jens Schallner
SMART Reading(US)University Hospital Carl Gustav Carus(DE)Technische Universität Dresden(DE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Ion channel regulation and function, RNA modifications and cancer
Most-Cited Works
- → STXBP1 encephalopathy(2016)310 cited
- → New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy(2017)124 cited
- → Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt(2016)93 cited
- → Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations(2013)77 cited
- → A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy(2017)73 cited
- → Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children(2021)62 cited