van der Ven, Amelie Theresa

Top Publications

Top Publications Authored or Co-Authored by "van der Ven, Amelie Theresa"

• Whole exome sequencing of patients with steroid-resistant nephrotic syndrome

  Clinical Journal of the American Society of Nephrology, Volume 13, No. 1, Year 2018, Citations 153
• Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract

  Journal of the American Society of Nephrology, Volume 29, No. 9, Year 2018, Citations 129
• Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

  American Journal of Human Genetics, Volume 107, No. 4, Year 2020, Citations 99
• Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

  Nature Communications, Volume 9, No. 1, Article 1960, Year 2018, Citations 90
• Exome sequencing discerns syndromes in patients from consanguineous families with congenital anomalies of the kidneys and urinary tract

  Journal of the American Society of Nephrology, Volume 28, No. 1, Year 2017, Citations 75