Fagerberg, Christina Ringmann

Top Publications

Top Publications Authored or Co-Authored by "Fagerberg, Christina Ringmann"

• 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
• De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

  American Journal of Human Genetics, Volume 105, No. 3, Year 2019, Citations 34
• Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

  Clinical Genetics, Volume 90, No. 3, Year 2016, Citations 18