Gregor, Anne

Top Publications

Top Publications Authored or Co-Authored by "Gregor, Anne"

• Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

  Nature Genetics, Volume 49, No. 3, Year 2017, Citations 66
• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

  Genetics in Medicine, Volume 25, No. 8, Article 100885, Year 2023, Citations 64
• Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases

  American Journal of Human Genetics, Volume 107, No. 3, Year 2020, Citations 53
• Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

  American Journal of Human Genetics, Volume 101, No. 3, Year 2017, Citations 41
• Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome

  Annals of Neurology, Volume 84, No. 5, Year 2018, Citations 35