Wollnik, Bernd

Top Publications

Top Publications Authored or Co-Authored by "Wollnik, Bernd"

• Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

  American Journal of Human Genetics, Volume 103, No. 2, Year 2018, Citations 58
• SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

  Nucleic Acids Research, Volume 47, No. 6, Year 2019, Citations 40
• Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

  American Journal of Human Genetics, Volume 110, No. 7, Year 2023, Citations 39
• Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

  Nature Communications, Volume 10, No. 1, Article 1180, Year 2019, Citations 32
• RNF43 pathogenic Germline variant in a family with colorectal cancer

  Clinical Genetics, Volume 101, No. 1, Year 2022, Citations 21