Danielle Demarzo

Medical Genetics | Obstetrics and Gynecology | Pediatrics

1200 Childrens Ave
Oklahoma City, OK 73104

Last Updated: 09/26/2026

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Found 8 publications

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

Journal: medRxiv : the preprint server for health sciences

Published: April 10, 2026

PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

Journal: medRxiv : the preprint server for health sciences

Published: April 10, 2026

Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned.

Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned.

Journal: Molecular genetics and metabolism reports

Published: October 01, 2022

Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies.

Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies.

Journal: Molecular cytogenetics

Published: November 21, 2021

Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia.

Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia.

Journal: Molecular genetics and metabolism reports

Published: September 27, 2021

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

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

Published: September 25, 2020

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

Journal: American journal of human genetics

Published: October 23, 2019

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.

Journal: Human mutation

Published: September 19, 2019

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Last Updated: 09/26/2026