Kari A. Casas

Kari A. Casas

Medical Genetics

3955 56th St. S.
Fargo, ND 58104

Last Updated: 09/26/2026

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Found 12 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

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Journal: HGG advances

Published: January 14, 2025

Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase.

Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase.

Journal: Molecular genetics and metabolism reports

Published: March 25, 2024

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

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

Published: October 13, 2021

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

Journal: Nutrients

Published: September 15, 2019

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.

Journal: Molecular genetics & genomic medicine

Published: September 09, 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Journal: American journal of human genetics

Published: March 09, 2019

Adoptees' Pursuit of Genomic Testing to Fill Gaps in Family Health History and Reduce Healthcare Disparity.

Adoptees' Pursuit of Genomic Testing to Fill Gaps in Family Health History and Reduce Healthcare Disparity.

Journal: Narrative inquiry in bioethics

Published: September 18, 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Journal: American journal of human genetics

Published: July 20, 2018

Can untreated PKU patients escape from intellectual disability? A systematic review.

Can untreated PKU patients escape from intellectual disability? A systematic review.

Journal: Orphanet journal of rare diseases

Published: May 04, 2018

The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.

The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.

Journal: American journal of medical genetics. Part A

Published: February 28, 2016

Showing 1-12 of 12

Last Updated: 09/26/2026