The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.

Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.

How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.

Assessed papers (11)

• Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome
  2026 L1 89/100
• Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of <i>FBN2</i>.
  2025 L1 No data access
• Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
  2025 L1 76/100
• CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
  2025 L1 67/100
• Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use
  2024 L1 94/100
• Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findi
  2024 L1 87/100
• Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
  2022 L1 84/100
• Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
  2019 L1 93/100
• Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.
  2006 L1 No data access
• KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
  1999 L1 88/100
• A potassium channel mutation in neonatal human epilepsy.
  1998 L1 No computation