Kristina P. Cusmano-Ozog

Medical Genetics | Pediatrics

300 Pasteur Dr
H-315
Stanford, CA 94305

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 38 publications

Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study.

Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study.

Journal: Molecular genetics and metabolism

Published: June 25, 2025

The Clinical and Biochemical Impact of the Multivitamin Shortage on Neonatal Patients.

The Clinical and Biochemical Impact of the Multivitamin Shortage on Neonatal Patients.

Journal: Journal of investigative medicine high impact case reports

Published: May 21, 2025

College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance.

College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance.

Journal: Genetics in medicine open

Published: September 03, 2024

Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels.

Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels.

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

Published: June 23, 2023

A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.

A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.

Journal: American journal of medical genetics. Part A

Published: February 15, 2023

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder.

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder.

Journal: Journal of investigative medicine high impact case reports

Published: February 08, 2023

Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy.

Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy.

Journal: American journal of medical genetics. Part A

Published: October 25, 2022

MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.

MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.

Journal: American journal of medical genetics. Part A

Published: October 11, 2022

Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculum.

Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculum.

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

Published: August 04, 2022

Recent tPA administration can cause pseudo-hyperargininemia and may mimic arginase deficiency or arginine supplementation.

Recent tPA administration can cause pseudo-hyperargininemia and may mimic arginase deficiency or arginine supplementation.

Journal: JIMD reports

Published: May 14, 2022

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.

Journal: American journal of medical genetics. Part A

Published: March 31, 2022

Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

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

Published: December 14, 2021

Showing 1-12 of 38

Last Updated: 09/26/2026