Laura Baker

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 (2)

• The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.
  2020 L1 No computation
• 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

2 assessed by us (0 reproduced) · 35 not yet assessed — every PubMed paper on record, linked below.

• Infant With Beckwith–Wiedemann Requiring Transplant for Hepatic Mesenchymal Hamartoma ↗

  Pediatric Transplantation · 2024 · PMID 39739595
  not yet assessed
• 1085 OPB-101: a mesothelin-specific CAR T cell therapy leveraging protein design to enhance T cell proliferation and persistence for the treatment of ovarian cancer ↗

  Regular and Young Investigator Award Abstracts · 2024
  not yet assessed
• P441: A novel candidate gene for syndromic bone marrow failure: Haploinsufficiency of SETMAR in a child with severe aplastic anemia ↗

  Genetics in Medicine Open · 2024
  not yet assessed
• O21: Genetic testing stewardship program: A five year overview of a novel service delivery model ↗

  Genetics in Medicine Open · 2024
  not yet assessed
• Abstract 51: OPB-101: An optimized mesothelin-specific CAR T cell product expressing CD8-targeted IL-2/15 and engineered to resist T cell exhaustion ↗

  Cancer Research · 2024
  not yet assessed
• Integrating Pharmacogenomic Testing Into Paired Germline and Somatic Genomic Testing in Patients with Cancer ↗

  Pharmacogenomics · 2023 · PMID 37702060
  not yet assessed
• Outsmart™ IL-2/15, a Novel Cytokine Designed to Enhance ROR1-Specific CAR T Anti-Tumor Activity While Minimizing Treg Activation and Systemic Cytokine Exposure ↗

  Blood · 2023
  not yet assessed
• Development of a Regulated, Optimized Mesothelin Chimeric Antigen Receptor (CAR) for the Treatment of Mesothelin Positive Cancers ↗

  Blood · 2023
  not yet assessed
• Structure–function analysis of the SHOC2–MRAS–PP1C holophosphatase complex ↗

  Nature · 2022 · PMID 35831509
  not yet assessed
• Abstract LB029: Comprehensive structure-function evaluation of the SHOC2 holophosphatase reveals disease mechanisms and therapeutic opportunities ↗

  Cancer Research · 2022
  not yet assessed
• Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior ↗

  Genetics in Medicine · 2021 · PMID 33658631
  not yet assessed
• Novel genetic testing model: A collaboration between genetic counselors and nephrology ↗

  American Journal of Medical Genetics Part A · 2021 · PMID 33475249
  not yet assessed
• The Genetic Testing Stewardship Program: ↗

  Delaware Journal of Public Health · 2021 · PMID 35619979
  not yet assessed
• The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

  European Journal of Human Genetics · 2020 · PMID 32499600
  L1 No computation
• Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior ↗

  medRxiv · 2020
  not yet assessed
• Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 ↗

  Human Mutation · 2019 · PMID 31595648
  not yet assessed
• Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome ↗

  The American Journal of Human Genetics · 2019 · PMID 31155282
  not yet assessed
• Medically actionable comorbidities in adults with Costello syndrome ↗

  American Journal of Medical Genetics Part A · 2019 · PMID 31680412
  not yet assessed
• SAT-290 Expanded Phenotype Associated with RNF135 Intragenic Deletion in a Girl with Peripheral Precocious Puberty ↗

  Journal of the Endocrine Society · 2019
  not yet assessed
• Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP ↗

  Biological Psychiatry · 2018 · PMID 29724491
  not yet assessed
• Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy ↗

  The American Journal of Human Genetics · 2018 · PMID 29727687
  not yet assessed
• Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS) ↗

  Genetics in Medicine · 2018 · PMID 29300373
  not yet assessed
• Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly ↗

  Brain · 2017 · PMID 28969385
  not yet assessed
• HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients ↗

  European Journal of Human Genetics · 2017 · PMID 29180823
  not yet assessed
• Expansion and further delineation of the <i>SETD5</i> phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance ↗

  Clinical Genetics · 2017 · PMID 28881385
  not yet assessed
• Phenotypic spectrum of Costello syndrome individuals harboring the rare <i>HRAS</i> mutation p.Gly13Asp ↗

  American Journal of Medical Genetics Part A · 2017 · PMID 28371260
  not yet assessed
• Constitutional <i><scp>LZTR1</scp></i> mutation presenting with a unilateral vestibular schwannoma in a teenager ↗

  Clinical Genetics · 2017 · PMID 28295212
  not yet assessed
• Recessive mutation in EXOSC9 disrupts the exosome complex resulting in a novel form of cerebellar hypoplasia/atrophy with early motor neuronopathy ↗

  Neuromuscular Disorders · 2017
  not yet assessed
• Optical microscopy and autofluorescence recognition of Toxoplasma gondii and Cryptosporidium parvum oocysts ↗

  World Congress on Medical Physics and Biomedical Engineering, September 7 - 12, 2009, Munich, Germany · 2017
  not yet assessed
• A novel rasopathy caused by recurrent de novo missense mutations in <i>PPP1CB</i> closely resembles Noonan syndrome with loose anagen hair ↗

  American Journal of Medical Genetics Part A · 2016 · PMID 27264673
  not yet assessed
• Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic <i>PIK3CA</i> mutation ↗

  American Journal of Medical Genetics Part A · 2016 · PMID 27191687
  not yet assessed
• The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes ↗

  American Journal of Medical Genetics Part A · 2016 · PMID 27112773
  not yet assessed
• Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma ↗

  American Journal of Medical Genetics Part A · 2016 · PMID 27589201
  not yet assessed
• Recurrent de novo missense mutations in PP1CB cause a novel rasopathy closely resembling Noonan syndrome with loose anagen hair (Reviewer choice)

  2016
  not yet assessed
• Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update ↗

  Human Mutation · 2015 · PMID 26507355
  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
• Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy ↗

  The American Journal of Human Genetics · 2014 · PMID 25105227
  not yet assessed