Friedhelm Hildebrandt

43PUBLICATIONS
275CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsEpigenetics (incl. genome methylation and epigenomics)Ngā pūnaha whakahaere mōhiohio me te mātauranga o te Māori (Māori information and knowledge management systems)Neurology and neuromuscular diseasesNeurogenetics
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Publications (43)

|Aug 05, 2026
Real-World Outcomes of a Pediatric Kidney Genetics Clinic: Diagnostic Yield, Variants of Uncertain Significance, and Clinical Translation.

|Apr 09, 2026
How variant discovery redefines genetic prevalence: the case of cystine stone disease.

Chen-Han Wilfred Wu, Joshua Chang, Katreya Lovrenert

|Mar 05, 2026
N6-adenosine methylation enhances nuclear mRNA export through METTL3 and NUP93.

Ji Hoon Lee, Mark Tingey, Zhao Zhang

|Jan 21, 2026
Mechanisms of Podocyte Injury Due to Loss of the Nucleoporin NUP93.

Hussein Bachir, Vanessa Krausel, Florian Buerger

|Nov 27, 2025
Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.

Florian Buerger, Daanya Salmanullah, Lorrin Liang

|Oct 09, 2025
Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes.

Hila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena

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Frequent Collaborators

6 joint publications

Maddalena Marasà

6 joint publications

Ali Gharavi

6 joint publications

Simone Sanna-Cherchi

5 joint publications

Miguel Verbitsky