Werner L. Pabst

Mutations in nuclear pore genes NUP93, NUP205, and XPO5 cause steroid resistant nephrotic syndrome

R. Lifton, W. Antonin, F. Hildebrandt, 2016, Nature Genetics.

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

S. Mane, R. Lifton, V. Tasic, 2018, Clinical journal of the American Society of Nephrology : CJASN.

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

S. Mane, D. Lowy, K. Nakayama, 2018, Nature Communications.

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

S. Engelmann, R. Lifton, F. Hildebrandt, 2015, Journal of the American Society of Nephrology : JASN.

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

S. Levy, M. Simpson, F. Hildebrandt, 2015, American journal of human genetics.

Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly

Annapurna, Wierenga, E. Roeder, 2018 .

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Jeremy F. P. Ullmann, Sebastian A. Leidel, E. Roeder, 2017, Nature Genetics.

Prevalence of Enteroaggregative Escherichia coli among Children with and without Diarrhea in Switzerland

D. Nadal, M. Altwegg, Werner L Pabst, 2003, Journal of Clinical Microbiology.

Successful long-term outcome after renal transplantation in a patient with atypical haemolytic uremic syndrome with combined membrane cofactor protein CD46 and complement factor I mutations

Werner L Pabst, T. Neuhaus, G. Spartà, 2013, Pediatric Nephrology.