Martin Franke
Sevilla, AN, Spain
Last Updated: 09/26/2026
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Found 23 publications
Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation.
Journal: medRxiv : the preprint server for health sciences
Published: March 18, 2026
Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE.
Journal: NPJ genomic medicine
Published: July 10, 2025
Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE.
Journal: medRxiv : the preprint server for health sciences
Published: July 09, 2025
Deep conservation of cis-regulatory elements and chromatin organization in echinoderms uncover ancestral regulatory features of animal genomes.
Journal: Nature ecology & evolution
Published: November 25, 2024
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.
Journal: Genome medicine
Published: May 16, 2024
Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism.
Journal: Frontiers in endocrinology
Published: November 27, 2023
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Journal: Nature communications
Published: May 18, 2023
Regulatory Architecture of the RCA Gene Cluster Captures an Intragenic TAD Boundary, CTCF-Mediated Chromatin Looping and a Long-Range Intergenic Enhancer.
Journal: Frontiers in immunology
Published: March 22, 2022
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Journal: Nature communications
Published: March 21, 2022
Gain of gene regulatory network interconnectivity at the origin of vertebrates.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: March 09, 2022
Last Updated: 09/26/2026