Steindl, Katharina L.

Top Publications

Top Publications Authored or Co-Authored by "Steindl, Katharina L."

• Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

  Brain, Volume 141, No. 7, Year 2018, Citations 70
• Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

  Genetics in Medicine, Volume 25, No. 1, Year 2023, Citations 67
• Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

  Genetics in Medicine, Volume 23, No. 10, Year 2021, Citations 54
• C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients

  Clinical Genetics, Volume 78, No. 6, Year 2010, Citations 45
• MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

  Annals of Neurology, Volume 89, No. 4, Year 2021, Citations 45