Author

Jamie L. Maciaszek

St. Jude Children's Research HospitalORCID 0000-0002-9217-5638Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Approach:Bayesian inference· 1 Research Focus:database / resource· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Jeffery M. KlcoiD· 2 shared Mohammad K. EldomeryiD· 2 shared Patrick R. BlackburniD· 2 shared Taylor Cain· 2 shared Victor Pastor Loyola· 2 shared Amanda B. SpurdleiD· 1 shared Arjen R. MensenkampiD· 1 shared Brian H. ShirtsiD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jeffery M. KlcoORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 8, 2026

Prevalence and Clinical Significance of Adult-Onset Cancer Predisposition Variants in Pediatric Oncology

Jamie L. Maciaszek, Victor Pastor Loyola, Taylor Cain…·Mohammad K. Eldomery

The paper examines the prevalence and clinical significance of adult-onset cancer predisposition variants in pediatric cancer patients, finding most variants are secondary rather than directly related to the tumor.

DOI 10.64898/2026.06.07.26354365

humanwhole-exome sequencing

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedSep 19, 2024

Evaluation of Bayesian Point-Based System on the Variant Classification of Hereditary Cancer Predisposition Genes

Mohammad K. Eldomery, Jamie L. Maciaszek, Taylor Cain…·Patrick R. Blackburn

The paper evaluates a Bayesian point-based system for variant classification in hereditary cancer genes, finding it reduces variants of uncertain significance compared to ACMG/AMP 2015 guidelines.

6 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintNov 1, 2021

ClinGen CDH1 specifications for the ACMG/AMP guidelines: improvement of germline variant clinical assertions and updated curation guidelines

Xi Luo, Jamie L. Maciaszek, Bryony A. Thompson…·Rachid Karam

The paper updates CDH1 variant curation guidelines to resolve conflicting interpretations and reduce variants of uncertain significance for clinical use.

DOI 10.1101/2021.11.01.21265332

humanstatistical model

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