Molly M. Crenshaw

Medical Genetics

201 Queens Rd
Charlotte, NC 28204

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 14 publications

Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina.

Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina.

Journal: Molecular genetics and metabolism

Published: April 06, 2026

The Trusted Senior: How Attendings and Residents Can Co-Create Success.

The Trusted Senior: How Attendings and Residents Can Co-Create Success.

Journal: The clinical teacher

Published: August 18, 2025

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis.

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis.

Journal: JIMD reports

Published: August 07, 2025

Differentiation of neonatal and infantile onset ECHS1 deficiency using SCEH enzyme activity and plasma acylcarnitine analysis.

Differentiation of neonatal and infantile onset ECHS1 deficiency using SCEH enzyme activity and plasma acylcarnitine analysis.

Journal: Molecular genetics and metabolism

Published: March 02, 2025

Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol.

Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol.

Journal: Molecular genetics and metabolism

Published: January 26, 2025

Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol.

Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol.

Journal: Molecular genetics and metabolism

Published: January 26, 2025

A novel remote monitoring device recapitulates sleep patterns in angelman syndrome.

A novel remote monitoring device recapitulates sleep patterns in angelman syndrome.

Journal: Sleep medicine

Published: July 10, 2023

Five siblings expand the spectrum of GPC6-related skeletal dysplasia.

Five siblings expand the spectrum of GPC6-related skeletal dysplasia.

Journal: American journal of medical genetics. Part A

Published: April 28, 2023

An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader-Willi Syndrome.

An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader-Willi Syndrome.

Journal: Case reports in genetics

Published: February 16, 2023

Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation.

Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation.

Journal: American journal of medical genetics. Part A

Published: December 18, 2022

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

Journal: American journal of human genetics

Published: September 01, 2022

Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes.

Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes.

Journal: Endocrine oncology (Bristol, England)

Published: May 12, 2022

Showing 1-12 of 14

Last Updated: 09/26/2026