Steven B. Bleyl

Steven B. Bleyl

Medical Genetics

81 N Mario Capecchi Dr
Salt Lake City, UT 84113

Last Updated: 09/26/2026

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Found 30 publications

Elective genomic sequencing for adults in research, clinical and commercial contexts.

Elective genomic sequencing for adults in research, clinical and commercial contexts.

Journal: medRxiv : the preprint server for health sciences

Published: June 29, 2026

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

Journal: Clinical genetics

Published: May 12, 2026

Elective genomic sequencing for adults in research, clinical and commercial contexts.

Elective genomic sequencing for adults in research, clinical and commercial contexts.

Journal: BMC medical genomics

Published: January 29, 2026

RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases.

RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases.

Journal: BMC medical genomics

Published: June 25, 2025

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Journal: BMC medicine

Published: November 04, 2021

Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.

Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.

Journal: Pediatric research

Published: August 04, 2021

Interoperable genetic lab test reports: mapping key data elements to HL7 FHIR specifications and professional reporting guidelines.

Interoperable genetic lab test reports: mapping key data elements to HL7 FHIR specifications and professional reporting guidelines.

Journal: Journal of the American Medical Informatics Association : JAMIA

Published: April 20, 2021

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Journal: BMC medicine

Published: January 19, 2021

A qualitative study of prevalent laboratory information systems and data communication patterns for genetic test reporting.

A qualitative study of prevalent laboratory information systems and data communication patterns for genetic test reporting.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 23, 2020

A qualitative investigation of biomedical informatics interoperability standards for genetic test reporting: benefits, challenges, and motivations from the testing laboratory's perspective.

A qualitative investigation of biomedical informatics interoperability standards for genetic test reporting: benefits, challenges, and motivations from the testing laboratory's perspective.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 23, 2020

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

Journal: Molecular genetics & genomic medicine

Published: March 28, 2019

Myocardial overexpression of ANKRD1 causes sinus venosus defects and progressive diastolic dysfunction.

Myocardial overexpression of ANKRD1 causes sinus venosus defects and progressive diastolic dysfunction.

Journal: Cardiovascular research

Published: March 04, 2019

Showing 1-12 of 30

Last Updated: 09/26/2026