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Journal of the American Society of Nephrology : JASN|October 29, 2017
Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary TractAmelie T van der Ven, Asaf Vivante, Friedhelm Hildebrandt
Neurology. Genetics|September 25, 2025
Homozygous DBX1 Nonsense Variant in a Case of Atypical Congenital Central HypoventilationAmelie T van der Ven, Maja Hempel, Claas Kruse, et al.
Molecular Syndromology|September 8, 2017
Whole-Exome Sequencing Reveals Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case ReportAmelie T van der Ven, Shirlee Shril, Hadas Ityel, et al.
Journal of Alzheimer'S Disease : JAD|March 9, 2017
Methylene Blue (Tetramethylthionine Chloride) Influences the Mobility of Adult Neural Stem Cells: A Potentially Novel Therapeutic Mechanism of a Therapeutic Approach in the Treatment of Alzheimer's DiseaseAmelie T van der Ven, Julius C Pape, Dirk Hermann, et al.
Pediatric Blood & Cancer|October 22, 2025
Aggressive Systemic Mastocytosis Related to Germline p.D816V KIT MutationAntonia Kiwit, Julian Trah, Amelie T van der Ven, et al.
Molecular Genetics and Metabolism|August 12, 2023
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial diseaseAmelie T van der Ven, Alfredo Cabrera-Orefice, Isabell Wente, et al.
American Journal of Medical Genetics. Part A|January 24, 2023
A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tractCaroline M Kolvenbach, Bixia Zheng, Lea M Merz, et al.
Clinical Genetics|September 7, 2021
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohortAmelie T van der Ven, Jessika Johannsen, Fanny Kortüm, et al.
Neonatology|July 8, 2021
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic DiagnosisTasja Scholz, Martin Ernst Blohm, Fanny Kortüm, et al.
Pediatric Nephrology (Berlin, Germany)|August 6, 2017
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of casesAsaf Vivante, Hadas Ityel, Ben Pode-Shakked, et al.
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