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 (14)

• Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of <i>FBN2</i>.
  2025 L1 No data access
• 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
• RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
  2018 L1 No computation
• The role of the multidisciplinary health care team in the management of patients with Marfan syndrome.
  2016 L1 No computation
• An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
  2015 L1 83/100
• A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.
  2014 L1 83/100
• Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
  2013 L1 No computation
• Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.
  2012 L1 No computation
• Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
  2010 L1 No computation
• Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
  2010 96/100
• Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.
  2009 L1 No computation
• AlphaPIX and betaPIX and their role in focal adhesion formation.
  2006 L1 No computation
• Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
  2006 L1 75/100
• AlphaPIX associates with calpain 4, the small subunit of calpain, and has a dual role in integrin-mediated cell spreading.
  2005 L1 No computation