Christina M. Peroutka

Medical Genetics | Pediatrics

1204 W Main St
Charlottesville, VA 22903

Last Updated: 09/26/2026

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Found 10 publications

Biallelic DAW1 variants reveal tissue-specific role in heterotaxy without primary ciliary dyskinesia.

Biallelic DAW1 variants reveal tissue-specific role in heterotaxy without primary ciliary dyskinesia.

Journal: Research square

Published: February 23, 2026

Compound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesia.

Compound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesia.

Journal: medRxiv : the preprint server for health sciences

Published: February 06, 2026

Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes.

Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes.

Journal: NPJ genomic medicine

Published: September 24, 2025

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.

Journal: American journal of human genetics

Published: June 20, 2024

Yao syndrome in a child with C2 deficiency.

Yao syndrome in a child with C2 deficiency.

Journal: The journal of allergy and clinical immunology. In practice

Published: May 24, 2024

Cutaneous lesions in the setting of hypophosphatasia.

Cutaneous lesions in the setting of hypophosphatasia.

Journal: JAAD case reports

Published: November 15, 2023

Gene Therapy.

Gene Therapy.

Journal: Pediatrics in review

Published: November 03, 2020

Recurrent rash in a 2-month-old.

Recurrent rash in a 2-month-old.

Journal: Pediatric dermatology

Published: October 26, 2020

Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1.

Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1.

Journal: Clinical genetics

Published: October 20, 2020

Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency.

Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency.

Journal: JIMD reports

Published: July 23, 2018

Showing 1-10 of 10

Last Updated: 09/26/2026