Katia Sol‐Church

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)

• 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
• 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

2 assessed by us (1 reproduced) · 106 not yet assessed — every PubMed paper on record, linked below.

• Abstract LB060: Systematic discovery and validation of tumor-specific splice isoforms in endometrial cancer ↗

  Cancer Research · 2026
  not yet assessed
• Multimodal atlas of human atherosclerosis links granular vascular cell states to coronary artery disease risk ↗

  medRxiv · 2026 · PMID 42245058
  not yet assessed
• Microglia modulate the cerebrovascular reactivity through ectonucleotidase CD39 ↗

  Nature Communications · 2025 · PMID 39843911
  not yet assessed
• Modeling Alzheimer’s Disease with APOE4 Neuron-Glial Brain Assembloids Reveals IGFBPs as Therapeutic Targets ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2025 · PMID 41279729
  not yet assessed
• Addressing the Environmental Impact of Science Through a More Rigorous, Reproducible, and Sustainable Conduct of Research. ↗

  UNC Libraries · 2025
  not yet assessed
• Investigating the impact of antibiotic-induced dysbiosis on protection from <i>Clostridium difficile</i> colitis by mouse colonic innate lymphoid cells ↗

  mBio · 2024 · PMID 38376154
  not yet assessed
• <i>HRAS</i> -Mutant Cardiomyocyte Model of Multifocal Atrial Tachycardia ↗

  Circulation Arrhythmia and Electrophysiology · 2024 · PMID 38415356
  not yet assessed
• Chromatin structure and 3D architecture define the differential functions of PU.1 regulatory elements in blood cell lineages ↗

  Epigenetics & Chromatin · 2024 · PMID 39487555
  not yet assessed
• Nanosphere pharmacodynamics improves safety of immunostimulatory cytokine therapy ↗

  iScience · 2024 · PMID 38303687
  not yet assessed
• Microglia modulate cerebral blood flow and neurovascular coupling through ectonucleotidase CD39 ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2024 · PMID 39574618
  not yet assessed
• Addressing the Environmental Impact of Science Through aMore Rigorous, Reproducible, and Sustainable Conduct ofResearch ↗

  Journal of Biomolecular Techniques JBT · 2023 · PMID 37033093
  not yet assessed
• Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk ↗

  Nature Genetics · 2022 · PMID 35590109
  not yet assessed
• Evidence for oligodendrocyte progenitor cell heterogeneity in the adult mouse brain ↗

  Scientific Reports · 2022 · PMID 35902669
  not yet assessed
• Rigor, Reproducibility, and Transparency in SharedResearch Resources: Follow-Up Survey and Recommendations forImprovements ↗

  Journal of Biomolecular Techniques JBT · 2022 · PMID 36910580
  not yet assessed
• Author Correction: Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk ↗

  Nature Genetics · 2022 · PMID 35768727
  not yet assessed
• Deconvoluting sex-dependent dendritic cell-monocyte lineages in emphysematous lung tissue with bulk and single-cell RNA sequencing ↗

  Research Square · 2022
  not yet assessed
• Characterization and comparison of innate and adaptive immune responses at vaccine sites in melanoma vaccine clinical trials ↗

  Cancer Immunology Immunotherapy · 2021 · PMID 33454795
  not yet assessed
• Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder ↗

  Otolaryngology Case Reports · 2021 · PMID 35875410
  not yet assessed
• Cell-specific chromatin landscape of human coronary artery resolves regulatory mechanisms of disease risk ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• Abstract 113: Cell-specific Chromatin Landscape Of Human Coronary Artery Resolves Mechanisms Of Disease Risk ↗

  Arteriosclerosis Thrombosis and Vascular Biology · 2021
  not yet assessed
• Incomplete Freund’s adjuvant reduces arginase and enhances Th1 dominance, TLR signaling and CD40 ligand expression in the vaccine site microenvironment ↗

  Journal for ImmunoTherapy of Cancer · 2020 · PMID 32350119
  not yet assessed
• A Review of the Scientific Rigor, Reproducibility, and TransparencyStudies Conducted by the ABRF Research Groups ↗

  Journal of Biomolecular Techniques JBT · 2020 · PMID 31969795
  not yet assessed
• Oligomeric amyloid beta prevents myelination in a clusterin-dependent manner ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• Survey on Scientific Shared Resource Rigor and Reproducibility ↗

  Journal of Biomolecular Techniques JBT · 2019 · PMID 31452645
  not yet assessed
• <i>Mycobacterium avium</i> Complex Diversity within Lung Disease, as Revealed by Whole-Genome Sequencing ↗

  American Journal of Respiratory and Critical Care Medicine · 2019 · PMID 30965019
  not yet assessed
• Rigor and Reproducibility in Shared Resources: ABRF Committee on Core Rigor and Reproducibility Survey Update.

  PubMed Central · 2019
  not yet assessed
• GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome ↗

  The American Journal of Human Genetics · 2018 · PMID 30554721
  not yet assessed
• Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy ↗

  JCI Insight · 2017 · PMID 28289718
  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
• Age‐related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome ↗

  American Journal of Medical Genetics Part A · 2017 · PMID 28374929
  not yet assessed
• Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR ↗

  Neuromuscular Disorders · 2017 · PMID 28284873
  not yet assessed
• Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient ↗

  Frontiers in Oncology · 2017 · PMID 28421158
  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
• 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
• Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism ↗

  BMC Urology · 2016 · PMID 27769252
  not yet assessed
• Abstract 18770: Elucidation of MRAS-Mediated Noonan Syndrome With Cardiac Hypertrophy

  2016
  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
• Additional file 8: of Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism ↗

  Figshare · 2016
  not yet assessed
• Additional file 5: of Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism ↗

  Figshare · 2016
  not yet assessed
• Additional file 7: of Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism ↗

  Figshare · 2016
  not yet assessed
• Additional file 6: of Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism ↗

  Figshare · 2016
  not yet assessed
• Additional file 4: of Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism ↗

  Figshare · 2016
  not yet assessed
• Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies ↗

  The American Journal of Human Genetics · 2015 · PMID 25865493
  not yet assessed
• A phase I trial and viral clearance study of reovirus (Reolysin) in children with relapsed or refractory extra‐cranial solid tumors: A Children's Oncology Group Phase I Consortium report ↗

  Pediatric Blood & Cancer · 2015 · PMID 25728527
  not yet assessed
• <i>SMN1</i> and <i>SMN2</i> copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR ↗

  Molecular Genetics & Genomic Medicine · 2015 · PMID 26247043
  not yet assessed
• Mutations in <i><scp>RIT1</scp></i> cause Noonan syndrome – additional functional evidence and expanding the clinical phenotype ↗

  Clinical Genetics · 2015 · PMID 25959749
  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
• Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith–Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion ↗

  American Journal of Medical Genetics Part A · 2015 · PMID 26572961
  not yet assessed
• Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat ↗

  Molecular Human Reproduction · 2015 · PMID 26502805
  not yet assessed
• An Integrated Approach for Analyzing Clinical Genomic Variant Data from Next-Generation Sequencing ↗

  Journal of Biomolecular Techniques JBT · 2015 · PMID 25649353
  not yet assessed
• Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes <i>TSR2</i> and <i>RPS28</i> ↗

  American Journal of Medical Genetics Part A · 2014 · PMID 24942156
  not yet assessed
• Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome ↗

  American Journal of Medical Genetics Part A · 2014 · PMID 25394726
  not yet assessed
• Early-Lethal Costello Syndrome Due to Rare <i>HRAS</i> Tandem Base Substitution (c.35_36GC&gt;AA; p.G12E)–Associated Pulmonary Vascular Disease ↗

  Pediatric and Developmental Pathology · 2014 · PMID 25133308
  not yet assessed
• An Integrative Approach for Interpretation of Clinical NGS Genomic Variant Data.

  Europe PMC (PubMed Central) · 2014
  not yet assessed
• Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis ↗

  American Journal of Medical Genetics Part A · 2013 · PMID 23918763
  not yet assessed
• Assessing genotype–phenotype correlation in Costello syndrome using a severity score ↗

  Genetics in Medicine · 2013 · PMID 23429430
  not yet assessed
• Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory ↗

  American Journal of Medical Genetics Part A · 2013 · PMID 23918324
  not yet assessed
• Uniparental Disomy is Associated with Embryonal Rhabdomyosarcoma in Costello Syndrome and Nonsyndromic Patients: From Core-Side to Bed-Side and Back Again, Impact of Core Laboratories on Biomedical Research

  Europe PMC (PubMed Central) · 2013
  not yet assessed
• Abstract 3813: Uniparental disomy is associated with embryonal rhabdomyosarcoma in Costello Syndrome and nonsyndromic patients. ↗

  Cancer Research · 2013
  not yet assessed
• Abstract 4547: High-throughput screen to identify compounds targeted to embryonal rhabdomyosarcoma harboring mutant HRAS using cells derived from a pediatric Costello syndrome patient. ↗

  Cancer Research · 2013
  not yet assessed
• A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay ↗

  American Journal of Medical Genetics Part A · 2012 · PMID 22711505
  not yet assessed
• Normative growth charts for individuals with Costello syndrome ↗

  American Journal of Medical Genetics Part A · 2012 · PMID 22887473
  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
• Transmission of the rare <i>HRAS</i> mutation (c. 173C &gt; T; p.T58I) further illustrates its attenuated phenotype ↗

  American Journal of Medical Genetics Part A · 2012 · PMID 22488832
  not yet assessed
• A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism ↗

  Journal of Pediatric Endocrinology and Metabolism · 2012 · PMID 23155703
  not yet assessed
• All sudden unexplained infant respiratory deaths may result from the same underlying mechanism ↗

  Scandinavian Journal of Forensic Science · 2012
  not yet assessed
• ABRF 2012: Best Poster Competition ↗

  Journal of Biomolecular Techniques JBT · 2012
  not yet assessed
• Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome ↗

  American Journal of Medical Genetics Part A · 2011 · PMID 21344638
  not yet assessed
• Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype? ↗

  American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2011 · PMID 21495173
  not yet assessed
• Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C ↗

  American Journal of Medical Genetics Part A · 2011 · PMID 21438134
  not yet assessed
• CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review ↗

  American Journal of Medical Genetics Part A · 2011 · PMID 21337689
  not yet assessed
• Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome ↗

  American Journal of Medical Genetics Part A · 2011 · PMID 21834037
  not yet assessed
• NERLSCD: A Model for Regional Networking of Life Sciences Core Directors

  Europe PMC (PubMed Central) · 2011
  not yet assessed
• ABRF 2011 Waters Best Poster Award Winners

  2011
  not yet assessed
• Benchmarking miRNA Expression Levels in Degraded RNA Samples Using Real-Time RT-qPCR and Microarray Technologies

  Europe PMC (PubMed Central) · 2011
  not yet assessed
• ABRF Affiliates and Chapters.

  Europe PMC (PubMed Central) · 2011
  not yet assessed
• Digital Gene Expression of miRNA in Osteosarcoma Xenografts: Finding Biological Relevance in miRNA High Throughput Sequencing Data

  PubMed Central · 2010
  not yet assessed
• Nucleic Acid Research Group (NARG) 2009-2010 Study : Optimal Priming Strategies for cDNA Synthesis in Real-Time RT-qPCR.

  PubMed Central · 2010
  not yet assessed
• Male‐to‐male transmission of Costello syndrome: G12S <i>HRAS</i> germline mutation inherited from a father with somatic mosaicism ↗

  American Journal of Medical Genetics Part A · 2009 · PMID 19206176
  not yet assessed
• Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia ↗

  Prenatal Diagnosis · 2009 · PMID 19382114
  not yet assessed
• Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome ↗

  American Journal of Medical Genetics Part A · 2009 · PMID 19919001
  not yet assessed
• Living with Costello syndrome: Quality of life issues in older individuals ↗

  American Journal of Medical Genetics Part A · 2009 · PMID 20034064
  not yet assessed
• Costello syndrome associated with novel germline <i>HRAS</i> mutations: An attenuated phenotype? ↗

  American Journal of Medical Genetics Part A · 2008 · PMID 18247425
  not yet assessed
• Novel surface expression of reticulocalbin 1 on bone endothelial cells and human prostate cancer cells is regulated by TNF‐α ↗

  Journal of Cellular Biochemistry · 2008 · PMID 18561328
  not yet assessed
• The Molecular Basis of Costello Syndrome ↗

  Monographs in human genetics · 2008
  not yet assessed
• High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density ↗

  Osteoporosis International · 2008 · PMID 18597038
  not yet assessed
• Further delineation of the phenotype resulting from <i>BRAF</i> or <i>MEK1</i> germline mutations helps differentiate cardio‐facio‐cutaneous syndrome from Costello syndrome ↗

  American Journal of Medical Genetics Part A · 2007 · PMID 17551924
  not yet assessed
• Hepatoblastoma and heart transplantation in a patient with cardio‐facio‐cutaneous syndrome ↗

  American Journal of Medical Genetics Part A · 2007 · PMID 17567882
  not yet assessed
• Longitudinal assessment of cognitive characteristics in Costello syndrome ↗

  American Journal of Medical Genetics Part A · 2007 · PMID 17963256
  not yet assessed
• P222-T Increasing the Ease and Speed of Eukaryotic Protein Expression: A Cell-Free In Vitro Translation System Based on Sf Insect Cell Extracts.

  Journal of Biomolecular Techniques JBT · 2007
  not yet assessed
• Meta-Analysis of Genome-Wide Scans Provides Evidence for Sex- and Site-Specific Regulation of Bone Mass ↗

  Journal of Bone and Mineral Research · 2006 · PMID 17228994
  not yet assessed
• Somatic mosaicism for an <i>HRAS</i> mutation causes Costello syndrome ↗

  American Journal of Medical Genetics Part A · 2006 · PMID 16969868
  not yet assessed
• Paternal bias in parental origin of<i>HRAS</i>mutations in Costello syndrome ↗

  Human Mutation · 2006 · PMID 16835863
  not yet assessed
• Failure of Shortening and Inversion of the Perinatal Gubernaculum in the Cryptorchid Long-Evans orl Rat ↗

  The Journal of Urology · 2006 · PMID 16952701
  not yet assessed
• <i>HRAS</i> mutation analysis in Costello syndrome: Genotype and phenotype correlation ↗

  American Journal of Medical Genetics Part A · 2005 · PMID 16329078
  not yet assessed
• Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density ↗

  European Journal of Human Genetics · 2005 · PMID 15827564
  not yet assessed
• Exploring whole genome amplification as a DNA recovery tool for molecular genetic studies. ↗

  PubMed · 2005 · PMID 16030319
  not yet assessed
• Murine <i>Spam1</i> mRNA: Involvement of AU‐rich elements in the 3′UTR and antisense RNA in its tight post‐transcriptional regulation in spermatids ↗

  Molecular Reproduction and Development · 2005 · PMID 16250006
  not yet assessed
• Expression and characterization of cathepsin P ↗

  Biochemical Journal · 2004 · PMID 14629193
  not yet assessed
• Evolution of placentally expressed cathepsins ↗

  Biochemical and Biophysical Research Communications · 2002 · PMID 12054558
  not yet assessed
• Evolution of Placental Proteases ↗

  Biological Chemistry · 2002 · PMID 12437094
  not yet assessed
• Cathepsin Q, a Novel Lysosomal Cysteine Protease Highly Expressed in Placenta ↗

  Biochemical and Biophysical Research Communications · 2000 · PMID 10673370
  not yet assessed
• Mouse cathepsin M, a placenta-specific lysosomal cysteine protease related to cathepsins L and P ↗

  Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · 2000 · PMID 10760593
  not yet assessed
• Characterization of mouse cathepsin R, a new member of a family of placentally expressed cysteine proteases ↗

  Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · 2000 · PMID 11004518
  not yet assessed
• Cathepsin P, a novel protease in mouse placenta ↗

  Biochemical Journal · 1999 · PMID 10510293
  not yet assessed
• Expression of Cysteine Proteases in Extraembryonic Tissues during Mouse Embryogenesis ↗

  Archives of Biochemistry and Biophysics · 1999 · PMID 10600178
  not yet assessed
• Cathepsin P, a novel protease in mouse placenta ↗

  Biochemical Journal · 1999
  not yet assessed
• Amino acid substitutions in the N-terminal segment of cystatin C create selective protein inhibitors of lysosomal cysteine proteinases ↗

  Biochemical Journal · 1998 · PMID 9480898
  not yet assessed