Harald Jüppner

11PUBLICATIONS
37CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Infant and child healthOrthopaedicsMetabolic medicineAerospace materials
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Publications (11)

|Jul 07, 2026
Abnormal position of a GNAS methylation regulatory element causes autosomal dominant pseudohypoparathyroidism type 1B (PHP1B).

|Feb 05, 2026
Fibroblast Growth Factor 23 Trajectories in Children and Association with CKD Progression: The CKD in Children Study.

Farzana Perwad, Matthew B Matheson, Eva Glenn Lecea

|Jun 02, 2025
A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics.

Jakob Höppner, Damla Firat, Mohd Parvez-Khan

|Apr 18, 2025
Bidirectional disruption of GNAS transcripts causes broad methylation defects in pseudohypoparathyroidism type 1B.

Yorihiro Iwasaki, Monica Reyes, Anna Ryabets-Lienhard

|Feb 14, 2025
Jansen's Disease: Bone Abnormalities Beyond Chondrodysplasia.

Renata C Pereira, Anne M Delany, Monica Reyes

|Nov 15, 2024
Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment.

Ignacio Portales-Castillo, Rhea Singal, Anastasia Ambrose

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Frequent Collaborators

3 joint publications

Patrick Hanna

2 joint publications

Agnès Linglart

2 joint publications

Thomas J Gardella

2 joint publications

Yorihiro Iwasaki