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 (36)

• Disease-specific biomarkers of pathogenic HRAS variants in human immortalized keratinocytes.
  2026 L1 No data access
• Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of <i>FBN2</i>.
  2025 L1 No data access
• CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
  2025 L1 67/100
• Thoracic aortic diseases: Identification of diagnostic biomarkers using proteomic analysis⚑
  2025 L1 23/100 ⚑
• Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes.
  2023 L1 66/100
• Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
  2023 L1 85/100
• Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
  2022 L1 84/100
• The focal adhesion protein β-parvin controls cardiomyocyte shape and sarcomere assembly in response to mechanical load.
  2022 L1 No computation
• A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
  2022 L1 No computation
• Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.⚑
  2020 78/100 ⚑
• The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.
  2020 L1 No computation
• 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
• 16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.
  2019 L1 78/100
• RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
  2018 L1 No computation
• A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.
  2018 L1 76/100
• 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
• An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
  2015 L1 No computation
• αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor.
  2015 L1 No computation
• A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.
  2014 L1 83/100
• RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR.
  2014 L1 No computation
• Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.
  2013 L1 No computation
• 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
• Reelin and the Cdc42/Rac1 guanine nucleotide exchange factor αPIX/Arhgef6 promote dendritic Golgi translocation in hippocampal neurons.
  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
• A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
  2012 L1 88/100
• 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
• WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
  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
• Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
  2008 L1 70/100
• 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
• Plexin B3 promotes neurite outgrowth, interacts homophilically, and interacts with Rin.
  2005 L1 No computation
• Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling.
  2003 L1 No computation