Heller, Raoul

Top Publications

Top Publications Authored or Co-Authored by "Heller, Raoul"

• Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

  American Journal of Human Genetics, Volume 82, No. 2, Year 2008, Citations 131
• Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

  Nature Genetics, Volume 49, No. 4, Year 2017, Citations 62
• Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome

  Molecular Genetics and Genomic Medicine, Volume 5, No. 5, Year 2017, Citations 60
• Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene

  Investigative Ophthalmology and Visual Science, Volume 56, No. 13, Year 2015, Citations 42
• Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

  European Journal of Human Genetics, Volume 22, No. 2, Year 2014, Citations 40