Amy L. Calhoun

Medical Genetics | Pediatrics

200 Hawkins Dr
Iowa City, IA 52242

Last Updated: 09/26/2026

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Found 22 publications

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Extended Growth Curves for the Wolf-Hirschhorn Syndrome (4p-).

Extended Growth Curves for the Wolf-Hirschhorn Syndrome (4p-).

Journal: American journal of medical genetics. Part A

Published: November 15, 2024

Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance.

Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance.

Journal: International journal of neonatal screening

Published: February 08, 2024

Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene.

Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene.

Journal: Epilepsy & behavior reports

Published: November 17, 2023

A novel de novo intragenic duplication in FBN1 associated with early-onset Marfan syndrome in a 16-month-old: A case report and review of the literature.

A novel de novo intragenic duplication in FBN1 associated with early-onset Marfan syndrome in a 16-month-old: A case report and review of the literature.

Journal: American journal of medical genetics. Part A

Published: May 25, 2023

Metabolic Emergency in Flight.

Metabolic Emergency in Flight.

Journal: Air medical journal

Published: September 13, 2021

Otospondylomegaepiphyseal Dysplasia: A Case Report of Clinical and Radiographic Findings.

Otospondylomegaepiphyseal Dysplasia: A Case Report of Clinical and Radiographic Findings.

Journal: JBJS case connector

Published: January 29, 2021

How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails.

How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails.

Journal: American journal of medical genetics. Part A

Published: January 09, 2020

The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

Journal: American journal of medical genetics. Part A

Published: September 26, 2019

Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result.

Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result.

Journal: Journal of community genetics

Published: August 01, 2018

Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature.

Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature.

Journal: American journal of medical genetics. Part A

Published: November 08, 2017

Showing 1-12 of 22

Last Updated: 09/26/2026