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Esteban Astiazaran Symonds
Assistant Professor, Medicine - (Clinical Scholar Track)
Medicine
Map Page
Research Area
pancreatic cancer,
systematic review,
cancer risk,
genetic variants,
cancer,
melanoma,
fabry disease,
renal failure,
genetic disorder,
kidney disease
Publications
(10)
Recent
Association of germline variants in telomere maintenance genes and with spitzoid morphology in familial melanoma: A multi-center case series
2023
genetic variants,
melanoma,
telomere maintenance,
spitzoid morphology,
familial cancer
Cancer in Costello syndrome: a systematic review and meta-analysis
2023
cancer,
systematic review,
meta-analysis,
disease genetics
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics ACMG)
2023
genetic counseling,
cancer risk,
chek2 variants,
clinical practice guidelines,
genomic medicine
Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome
2023
melanoma,
neurofibromatosis,
tumor spectrum,
prevalence
Visualization and Quantification of the Association Between Breast Cancer and Cholesterol in the All of Us Research Program.
2023
breast cancer,
cholesterol,
data visualization,
epidemiology,
precision medicine
Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in and Pancreatic Cancer
2022
genetics,
cancer,
pathogenic variants,
pancreatic cancer,
gene-level associations
A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes
2022
genomics,
pancreatic cancer,
cancer risk,
genetic variants,
cancer susceptibility
A systematic review of the prevalence of germline pathogenic variants in patients with pancreatic cancer
2021
cancer genomics,
genetic epidemiology,
systematic review,
pancreatic cancer,
genetic testing
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2
2020
mitochondrial dysfunction,
metabolic disorders,
genetic diseases,
energetic metabolism
Fabry Disease: An Uncommon Cause of Renal Failure
2017
fabry disease,
renal failure,
genetic disorder,
kidney disease,
rare diseases
Collaborations
(4)
Chris Stallman
Mutual work: 1 Proposal
Collaboration Details
Valerie Schaibley
Mutual work: 1 Proposal
Collaboration Details
David Bear
Mutual work: 1 Proposal
Collaboration Details
Catelyn Lowell
Mutual work: 1 Proposal
Collaboration Details
Courses
(2)
Survey of Human Genetic Disorders
Survey of Human Genetic Disorders II
9+ Publications
