Patroula Smpokou

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)

• 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

1 assessed by us (0 reproduced) · 14 not yet assessed — every PubMed paper on record, linked below.

• Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism ↗

  Clinical and Translational Science · 2023 · PMID 37735717
  not yet assessed
• FDA approval summary for lonafarnib (Zokinvy) for the treatment of Hutchinson-Gilford progeria syndrome and processing-deficient progeroid laminopathies ↗

  Genetics in Medicine · 2022 · PMID 36507973
  not yet assessed
• WORLDSymposiumTM 2022⁎ ↗

  Molecular Genetics and Metabolism · 2022
  not yet assessed
• Expanding Approved Patient Populations for Rare Disease Treatment Using <i>In Vitro</i> Data ↗

  Clinical Pharmacology & Therapeutics · 2021 · PMID 34496049
  not yet assessed
• Loss-of-function mutations in<i>ISCA2</i>disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion ↗

  Human Mutation · 2018 · PMID 29297947
  not yet assessed
• Noonan syndrome in diverse populations ↗

  American Journal of Medical Genetics Part A · 2017 · PMID 28748642
  not yet assessed
• Cover Image, Volume 173A, Number 9, September 2017 ↗

  American Journal of Medical Genetics Part A · 2017
  not yet assessed
• Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication ↗

  Journal of Pediatric Hematology/Oncology · 2016 · PMID 27258033
  not yet assessed
• Malignancy in Noonan syndrome and related disorders ↗

  Clinical Genetics · 2015 · PMID 25683281
  not yet assessed
• An attenuated phenotype of Costello syndrome in three unrelated individuals with a <i>HRAS</i> c.179G&gt;A (p.Gly60Asp) mutation correlates with uncommon functional consequences

  American Journal of Medical Genetics Part A · 2015 · PMID 25914166
  L1 No computation
• Important Considerations in the Initial Clinical Evaluation of the Dysmorphic Neonate ↗

  Advances in Neonatal Care · 2015 · PMID 26225593
  not yet assessed
• PTEN hamartoma tumour syndrome: early tumour development in children ↗

  Archives of Disease in Childhood · 2014 · PMID 25114091
  not yet assessed
• Menkes disease in affected females: The clinical disease spectrum ↗

  American Journal of Medical Genetics Part A · 2014 · PMID 25428120
  not yet assessed
• Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies ↗

  Molecular Genetics and Metabolism Reports · 2014 · PMID 27896076
  not yet assessed
• Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome ↗

  American Journal of Medical Genetics Part A · 2012 · PMID 23165751
  not yet assessed