Steffen Lenzner
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Retinal Development and Disorders, Genomics and Rare Diseases, Retinal Diseases and Treatments, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Positional cloning of the gene for X-linked retinitis pigmentosa 2(1998)382 cited
- → Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation(2005)374 cited
- → Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy(2018)205 cited
- → A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome(2006)189 cited
- → Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation(2003)167 cited
- → RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa(1999)146 cited
- → Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation(2004)142 cited
- → NovelJARID1C/SMCX mutations in patients with X-linked mental retardation(2006)125 cited
- → Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium(2007)121 cited
- → CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling(2013)115 cited