Elizabeth G. Ames

Elizabeth G. Ames

Medical Genetics | Pediatrics

1540 E Hospital Dr
Floor 6 Reception C
Ann Arbor, MI 48109

Last Updated: 09/26/2026

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Found 26 publications

Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure.

Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure.

Journal: Prenatal diagnosis

Published: January 08, 2026

Novel HCFC1 variants identified in patients with ASD/ADHD and previously unreported structural brain malformations reveal the potential for phenotypic expansion.

Novel HCFC1 variants identified in patients with ASD/ADHD and previously unreported structural brain malformations reveal the potential for phenotypic expansion.

Journal: Molecular genetics and metabolism reports

Published: January 07, 2026

Aberrant skeletal muscle morphogenesis and myofiber differentiation characterize equine myotonic dystrophy.

Aberrant skeletal muscle morphogenesis and myofiber differentiation characterize equine myotonic dystrophy.

Journal: PloS one

Published: October 13, 2025

Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives.

Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives.

Journal: Kidney international reports

Published: October 06, 2025

Institutional readiness for novel therapeutics: A framework for multidisciplinary integration.

Institutional readiness for novel therapeutics: A framework for multidisciplinary integration.

Journal: Molecular genetics and metabolism

Published: April 11, 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

Evaluation for genetic disease in kidney transplant candidates: A practice resource.

Evaluation for genetic disease in kidney transplant candidates: A practice resource.

Journal: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons

Published: August 17, 2024

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy.

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: April 10, 2024

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Journal: American journal of human genetics

Published: April 01, 2024

Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.

Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.

Journal: American journal of medical genetics. Part A

Published: October 17, 2023

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.

Journal: Children (Basel, Switzerland)

Published: November 13, 2022

Showing 1-12 of 26

Last Updated: 09/26/2026