Kathy M. B. Vinette

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 (1)

• 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

1 assessed by us (1 reproduced) · 7 not yet assessed — every PubMed paper on record, linked below.

• Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach ↗

  Human Mutation · 2018 · PMID 30311378
  not yet assessed
• Erratum to “Detection of rarely identified multiple mutations in <i>MECP2</i> gene do not contribute to enhanced severity in Rett syndrome”, Am J Med Genet Part A 161A:1638–1646 ↗

  American Journal of Medical Genetics Part A · 2014
  not yet assessed
• A homozygous double mutation in <i><scp>SMN</scp>1</i>: a complicated genetic diagnosis of <scp>SMA</scp> ↗

  Molecular Genetics & Genomic Medicine · 2013 · PMID 24498607
  not yet assessed
• Detection of rarely identified multiple mutations in <i>MECP2</i> gene do not contribute to enhanced severity in rett syndrome ↗

  American Journal of Medical Genetics Part A · 2013 · PMID 23696494
  not yet assessed
• Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact <i>NKX2‐1</i> ↗

  American Journal of Medical Genetics Part A · 2012 · PMID 23169673
  not yet assessed
• A novel <i>HRAS</i> substitution (c.266C&gt;G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development

  American Journal of Medical Genetics Part A · 2012 · PMID 22821884
  L1 88/100
• Brain-Lung-Thyroid Disease ↗

  Journal of Child Neurology · 2011 · PMID 21813802
  not yet assessed
• Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation ↗

  Fertility and Sterility · 2007 · PMID 17241629
  not yet assessed