Florian Buerger

Florian Buerger

Harvard University - Cambridge / United States
Medical and Health Sciences / Nephrology
AD Scientific Index ID: 5954623
person_outline Florian Buerger's MOST POPULAR ARTICLES
1-) Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosisT Jobst-Schwan, V Klämbt, M Tarsio, JF Heneghan, AJ Majmundar, ...Kidney international 97 (3), 567-579, 2020552020
2-) ADCK4 deficiency destabilizes the coenzyme Q complex, which is rescued by 2, 4-dihydroxybenzoic acid treatmentE Widmeier, S Yu, A Nag, YW Chung, M Nakayama, L Fernández-del-Río, ...Journal of the American Society of Nephrology 31 (6), 1191-1211, 2020532020
3-) Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and miceAJ Majmundar, F Buerger, TA Forbes, V Klämbt, R Schneider, K Deutsch, ...Science advances 7 (1), eabe1386, 2021312021
4-) DAAM2 variants cause nephrotic syndrome via actin dysregulationR Schneider, K Deutsch, GJ Hoeprich, J Marquez, T Hermle, DA Braun, ...The American Journal of Human Genetics 107 (6), 1113-1128, 2020292020
5-) Mutations of the transcriptional corepressor ZMYM2 cause syndromic urinary tract malformationsDM Connaughton, R Dai, DJ Owen, J Marquez, N Mann, ...The American Journal of Human Genetics 107 (4), 727-742, 2020292020