Katrin Hinderhofer

Heidelberg, BW, Germany

Last Updated: 09/26/2026

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Found 80 publications

Clustered monoallelic mosaicism in twins suggests previously unrecognized path of mutagenesis.

Clustered monoallelic mosaicism in twins suggests previously unrecognized path of mutagenesis.

Journal: HGG advances

Published: June 03, 2026

Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromes.

Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromes.

Journal: bioRxiv : the preprint server for biology

Published: May 18, 2026

Interdisciplinary vascular genetics evaluations in routine clinical care: insights from a five-year single-center experience.

Interdisciplinary vascular genetics evaluations in routine clinical care: insights from a five-year single-center experience.

Journal: Langenbeck's archives of surgery

Published: April 21, 2026

Pathobiology and Genetics

Pathobiology and Genetics

Journal: Pneumologie (Stuttgart, Germany)

Published: October 06, 2025

Functional characterisation of KCNA5 gene variants linked to pulmonary arterial hypertension.

Functional characterisation of KCNA5 gene variants linked to pulmonary arterial hypertension.

Journal: The European respiratory journal

Published: October 02, 2025

Heritable pulmonary arterial hypertension: new genetic findings and environmental triggers.

Heritable pulmonary arterial hypertension: new genetic findings and environmental triggers.

Journal: Scientific reports

Published: September 03, 2025

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

Phenotypical and Genotypical Expansion of Autosomal-Dominant KDM1A -Related Neurodevelopmental Disorder Spectrum: A Case Report.

Phenotypical and Genotypical Expansion of Autosomal-Dominant KDM1A -Related Neurodevelopmental Disorder Spectrum: A Case Report.

Journal: American journal of medical genetics. Part A

Published: March 27, 2025

Beyond Repetition: The Role of Gray Zone Alleles in the Upregulation of FMR1-Binding miR-323a-3p and the Modification of BMP/SMAD-Pathway Gene Expression in Human Granulosa Cells.

Beyond Repetition: The Role of Gray Zone Alleles in the Upregulation of FMR1-Binding miR-323a-3p and the Modification of BMP/SMAD-Pathway Gene Expression in Human Granulosa Cells.

Journal: International journal of molecular sciences

Published: February 05, 2025

A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116.

A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116.

Journal: American journal of medical genetics. Part A

Published: January 10, 2025

Case Report: A heterozygous loss-of-function variant of the ERG gene in a family with vascular pathologies.

Case Report: A heterozygous loss-of-function variant of the ERG gene in a family with vascular pathologies.

Journal: Frontiers in cardiovascular medicine

Published: December 23, 2024

Regulation of Bone Morphogenetic Protein Receptor Type II Expression by FMR1/Fragile X Mental Retardation Protein in Human Granulosa Cells in the Context of Poor Ovarian Response.

Regulation of Bone Morphogenetic Protein Receptor Type II Expression by FMR1/Fragile X Mental Retardation Protein in Human Granulosa Cells in the Context of Poor Ovarian Response.

Journal: International journal of molecular sciences

Published: September 02, 2024

Showing 1-12 of 80

Last Updated: 09/26/2026