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Clinical Kidney Journal|June 27, 2022
Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasiaFriederike Petzold, Wenjun Jin, Elena Hantmann, et al.
Frontiers in Genetics|June 4, 2019
Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic SyndromeRia Schönauer, Anna Seidel, Maik Grohmann, et al.
Frontiers in Genetics|July 12, 2021
Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 GeneticsJonathan de Fallois, Ria Schönauer, Johannes Münch, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 26, 2014
Paradoxical response to furosemide in uromodulin-associated kidney diseaseLaura Labriola, Eric Olinger, Hendrica Belge, et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico|February 11, 2026
Inherited cancer syndromes in adult oncology: a referral guide based on malignant tumor and polyp featuresAudrey Guilmot, Magali Belpaire, Eric Olinger, et al.
Annals of Human Genetics|December 10, 2021
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variantsMaha Mohamed, James Tellez, Carsten Bergmann, et al.
Clinical Kidney Journal|July 8, 2026
Urine albumin-to-creatinine ratio as a predictor of kidney function decline in Alport syndromeJan Boeckhaus, Mira Choi, Annika Jens, et al.
Clinical Kidney Journal|December 12, 2017
Effective immunosuppressive management with belatacept and eculizumab in post-transplant aHUS due to a homozygous deletion of CFHR1/CFHR3 and the presence of CFH antibodiesJohannes Münch, Anette Bachmann, Maik Grohmann, et al.
Nature Reviews. Disease Primers|September 7, 2019
Autosomal dominant tubulointerstitial kidney diseaseOlivier Devuyst, Eric Olinger, Stefanie Weber, et al.
Molecular Genetics & Genomic Medicine|January 24, 2021
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapiesMiguel Barroso-Gil, Eric Olinger, Simon A Ramsbottom, et al.
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