Shane C. Quinonez

Shane C. Quinonez

Medical Genetics | Pediatrics

1540 East Hospital Drive
Floor 6
Ann Arbor, MI 48109

Last Updated: 09/26/2026

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Found 34 publications

FGFR1:TACC1-Fused Pilocytic Astrocytoma in a Child With Muenke Syndrome: A Case Report.

FGFR1:TACC1-Fused Pilocytic Astrocytoma in a Child With Muenke Syndrome: A Case Report.

Journal: Pediatric blood & cancer

Published: January 22, 2026

Medical genetics needs assessment: An online cross-sectional survey from Nepal.

Medical genetics needs assessment: An online cross-sectional survey from Nepal.

Journal: Genetics in medicine open

Published: July 17, 2025

Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.

Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.

Journal: Journal of the Endocrine Society

Published: January 28, 2025

Results of the ACTION-Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia.

Results of the ACTION-Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia.

Journal: Journal of clinical pharmacology

Published: October 15, 2024

ChatGPT and Artificial Intelligence in Graduate Medical Education Program Applications.

ChatGPT and Artificial Intelligence in Graduate Medical Education Program Applications.

Journal: Journal of graduate medical education

Published: August 16, 2024

Urea cycle disorders in critically Ill adults.

Urea cycle disorders in critically Ill adults.

Journal: Current opinion in clinical nutrition and metabolic care

Published: November 08, 2023

Implementation of a dedicated cascade testing clinic for patients at risk for hereditary cancer syndromes.

Implementation of a dedicated cascade testing clinic for patients at risk for hereditary cancer syndromes.

Journal: Journal of genetic counseling

Published: January 20, 2023

Rare disease therapeutics: The future of medical genetics in a changing landscape.

Rare disease therapeutics: The future of medical genetics in a changing landscape.

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

Published: July 11, 2022

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.

Journal: Pediatric neurology

Published: October 04, 2021

A 1-year and 4-month-old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia.

A 1-year and 4-month-old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia.

Journal: Clinical case reports

Published: July 18, 2021

The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned.

The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned.

Journal: American journal of medical genetics. Part A

Published: March 10, 2021

The introduction of genetic counseling in Ethiopia: Results of a training workshop and lessons learned.

The introduction of genetic counseling in Ethiopia: Results of a training workshop and lessons learned.

Journal: PloS one

Published: January 28, 2021

Showing 1-12 of 34

Last Updated: 09/26/2026