| Long‐lived macrophage reprogramming drives spike protein‐mediated inflammasome activation in COVID‐19 SJ Theobald, A Simonis, T Georgomanolis, C Kreer, M Zehner, HS Eisfeld, ... EMBO Molecular Medicine 13 (8), e14150, 2021 | 115 | 2021 |
| Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up SF Garrelfs, G Rumsby, H Peters-Sengers, F Erger, JW Groothoff, ... Kidney international 96 (6), 1389-1399, 2019 | 89 | 2019 |
| Risk factors for early dialysis dependency in autosomal recessive polycystic kidney disease K Burgmaier, K Kunzmann, G Ariceta, C Bergmann, AK Buescher, ... The Journal of pediatrics 199, 22-28. e6, 2018 | 49 | 2018 |
| The discovery of a LEMD2-associated nuclear envelopathy with early progeroid appearance suggests advanced applications for AI-driven facial phenotyping F Marbach, CF Rustad, A Riess, D Đukić, TC Hsieh, I Jobani, T Prescott, ... The American Journal of Human Genetics 104 (4), 749-757, 2019 | 45 | 2019 |
| Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants K Burgmaier, L Brinker, F Erger, BB Beck, MR Benz, C Bergmann, ... Kidney international 100 (3), 650-659, 2021 | 44 | 2021 |
| Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases Y Murakami, TTM Nguyen, N Baratang, PK Raju, A Knaus, S Ellard, ... The American Journal of Human Genetics 105 (2), 384-394, 2019 | 44 | 2019 |
| cfNOMe — A single assay for comprehensive epigenetic analyses of cell-free DNA F Erger, D Nörling, D Borchert, E Leenen, S Habbig, MS Wiesener, ... Genome Medicine 12, 1-14, 2020 | 41 | 2020 |
| Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic … F Erger, NO Brüchle, U Gembruch, K Zerres Archives of gynecology and obstetrics 295, 897-906, 2017 | 31 | 2017 |
| The adult phenotype of Schaaf-Yang syndrome F Marbach, M Elgizouli, M Rech, J Beygo, F Erger, C Velmans, ... Orphanet Journal of Rare Diseases 15, 1-11, 2020 | 20 | 2020 |
| Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) K Burgmaier, G Ariceta, M Bald, AK Buescher, M Burgmaier, F Erger, ... Scientific reports 10 (1), 16025, 2020 | 14 | 2020 |
| A heritable microduplication encompassing TBL1XR1 causes a genomic sister‐disorder for the 3q26.32 microdeletion syndrome V Riehmer, F Erger, P Herkenrath, S Seland, M Jackels, A Wiater, ... American Journal of Medical Genetics Part A 173 (8), 2132-2138, 2017 | 14 | 2017 |
| Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain F Marbach, G Stoyanov, F Erger, CA Stratakis, N Settas, E London, ... Genetics in medicine 23 (8), 1465-1473, 2021 | 13 | 2021 |
| O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum C Velmans, AH O'Donnell-Luria, E Argilli, FT Mau-Them, A Vitobello, ... Journal of medical genetics 59 (7), 697-705, 2022 | 10 | 2022 |
| Expanding the spectrum of FAT1 nephropathies by novel mutations that affect hippo signaling F Fabretti, N Tschernoster, F Erger, A Hedergott, AK Buescher, C Dafinger, ... Kidney International Reports 6 (5), 1368-1378, 2021 | 9 | 2021 |
| Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland P Sikora, M Zaniew, R Grenda, K Jobs, J Rubik, J Zawadzki, M Myślak, ... Polish Archives of Internal Medicine 130 (12), 1053-1063, 2020 | 8 | 2020 |
| Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses F Erger, K Burau, M Elsässer, K Zimmermann, U Moog, C Netzer European Journal of Human Genetics 26 (9), 1392-1395, 2018 | 8 | 2018 |
| Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach F Erger, CP Schaaf, C Netzer Molecular and cellular probes 45, 84-88, 2019 | 7 | 2019 |
| Unraveling structural rearrangements of the CFH gene cluster in atypical hemolytic uremic syndrome patients using molecular combing and long-fragment targeted sequencing N Tschernoster, F Erger, PR Walsh, B McNicholas, M Fistrek, S Habbig, ... The Journal of Molecular Diagnostics 24 (6), 619-631, 2022 | 5 | 2022 |
| A new era of treatment for primary hyperoxaluria type 1 F Erger, BB Beck Nature Reviews Nephrology 17 (9), 573-574, 2021 | 5 | 2021 |
| Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19. EMBO Mol. Med. 13, e14150 SJ Theobald, A Simonis, T Georgomanolis, C Kreer, M Zehner, HS Eisfeld, ... | 5 | 2021 |
