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Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/NephrocalcinosisJan Halbritter, Friedhelm Hildebrandt, Michelle A. Baum et al.|Journal of the American Society of Nephrology|2014Cited by 243
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosisAnkana Daga, Friedhelm Hildebrandt, Amar J. Majmundar et al.|Kidney International|2017Cited by 198
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or NephrocalcinosisDaniela A. Braun, Friedhelm Hildebrandt, Jennifer A. Lawson et al.|Clinical Journal of the American Society of Nephrology|2016Cited by 146
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL associationPawaree Saisawat, Friedhelm Hildebrandt, Stefan Kohl et al.|Kidney International|2013Cited by 128