Motameny, Susanne

Top Publications

Top Publications Authored or Co-Authored by "Motameny, Susanne"

• Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

  PLoS Genetics, Volume 18, No. 11, Article e1010367, Year 2022, Citations 100
• Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 100
• Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

  Journal of Clinical Investigation, Volume 128, No. 10, Year 2018, Citations 73
• Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

  Proceedings of the National Academy of Sciences of the United States of America, Volume 117, No. 26, Year 2020, Citations 57
• Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 25