Amanda B. Pritchard

Amanda B. Pritchard

Medical Genetics | Pediatrics

1540 East Hospital Drive
Floor 6
Ann Arbor, MI 48109

Last Updated: 09/26/2026

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Found 16 publications

Phenotype variability in six new patients with beta-mannosidosis.

Phenotype variability in six new patients with beta-mannosidosis.

Journal: Molecular genetics and metabolism

Published: May 11, 2026

A nurse-run, pharmacist-led outpatient penicillin allergy de-label clinic in the UK.

A nurse-run, pharmacist-led outpatient penicillin allergy de-label clinic in the UK.

Journal: JAC-antimicrobial resistance

Published: February 04, 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

Trisomy 5p: Long Recognized, Rarely Published- Three New Cases and Review of the Literature.

Trisomy 5p: Long Recognized, Rarely Published- Three New Cases and Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: February 07, 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

Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.

Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.

Journal: American journal of medical genetics. Part A

Published: August 11, 2024

Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency.

Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: March 21, 2024

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism.

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism.

Journal: Molecular cytogenetics

Published: June 09, 2022

TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.

TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.

Journal: American journal of medical genetics. Part A

Published: June 06, 2022

Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.

Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.

Journal: American journal of medical genetics. Part A

Published: September 30, 2021

Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.

Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.

Journal: American journal of medical genetics. Part A

Published: September 24, 2021

Trainee perspectives of COVID-19 impact on medical genetics education.

Trainee perspectives of COVID-19 impact on medical genetics education.

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

Published: September 30, 2020

Showing 1-12 of 16

Last Updated: 09/26/2026