Corina Heller

Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

Maike F. Dohrn, Nicola Glöckle, Lejla Mulahasanovic et al. · Journal of Neurochemistry · 2017 · 77 citations

Hereditary Neuropathies, Frequent Genes, Genetics +17

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Pauline E. Schneeberger, Fanny Kortüm, Georg Christoph Korenke et al. · Brain · 2020 · 59 citations · Full text

Ophthalmic features of cone‐rod dystrophy caused by pathogenic variants in the <i><scp>ALMS</scp>1</i> gene

Fadi Nasser, Nicole Weisschuh, Pietro Maffei et al. · Acta Ophthalmologica · 2017 · 39 citations · Full text

Identification of Key Amino Acid Residues That Determine the Ability of High Risk HPV16-E7 to Dysregulate Major Histocompatibility Complex Class I Expression

Corina Heller, Antje Mueller-Schickert, Elke Rufer et al. · Journal of Biological Chemistry · 2011 · 35 citations · Full text

Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy

Anne Schänzer, Alexander Pepler, Corina Heller et al. · Neuropediatrics · 2017 · 29 citations