Marc B. Sturm

Hoppe Seyler Str. 3
Tuebingen, BW 72076, Germany

Last Updated: 09/26/2026

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Found 109 publications

Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

Journal: European journal of human genetics : EJHG

Published: March 16, 2026

aiDIVA - hybrid AI for rare disease diagnostics using evidence-based, machine learning and language models.

aiDIVA - hybrid AI for rare disease diagnostics using evidence-based, machine learning and language models.

Journal: NPJ genomic medicine

Published: March 12, 2026

Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa.

Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa.

Journal: Molecular medicine (Cambridge, Mass.)

Published: February 03, 2026

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 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

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine

Published: June 19, 2025

Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.

Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.

Journal: International journal of molecular sciences

Published: April 10, 2025

HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancer.

HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancer.

Journal: Human genomics

Published: April 10, 2025

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Journal: Nature communications

Published: March 31, 2025

Recurrent c.-11C>T change located upstream of the normal ATG initiation codon of ANKH causes self-limited familial infantile epilepsy.

Recurrent c.-11C>T change located upstream of the normal ATG initiation codon of ANKH causes self-limited familial infantile epilepsy.

Journal: Epilepsia

Published: March 14, 2025

Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.

Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.

Journal: Breast (Edinburgh, Scotland)

Published: February 16, 2025

Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.

Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.

Journal: Brain : a journal of neurology

Published: November 12, 2024

Showing 1-12 of 109

Last Updated: 09/26/2026