Kristen M. Wigby

Medical Genetics | Pediatrics

3010 Childrens Way
San Diego, CA 92123

Last Updated: 09/26/2026

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Found 54 publications

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

Journal: medRxiv : the preprint server for health sciences

Published: June 29, 2026

The Fetal Fentanyl Syndrome: Additional evidence in support of a new human teratogen.

The Fetal Fentanyl Syndrome: Additional evidence in support of a new human teratogen.

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

Published: February 05, 2026

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial.

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial.

Journal: BMJ open

Published: November 14, 2025

Domain specific phenotypic expansion associated with variants in MACF1.

Domain specific phenotypic expansion associated with variants in MACF1.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Journal: Journal of medical genetics

Published: January 23, 2025

An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

Journal: Nature

Published: December 10, 2024

Long-term follow-up of children who received rapid genomic sequencing.

Long-term follow-up of children who received rapid genomic sequencing.

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

Published: November 05, 2024

The Prevalence of RNU4-2-Associated Autosomal Dominant Intellectual Disability Syndrome.

The Prevalence of RNU4-2-Associated Autosomal Dominant Intellectual Disability Syndrome.

Journal: Pediatric neurology

Published: September 26, 2024

Clinical utility of rapid whole genome sequencing in neonatal patients receiving extracorporeal membrane oxygenation (ECMO).

Clinical utility of rapid whole genome sequencing in neonatal patients receiving extracorporeal membrane oxygenation (ECMO).

Journal: Journal of perinatology : official journal of the California Perinatal Association

Published: August 17, 2024

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.

Journal: American journal of human genetics

Published: August 07, 2024

A Machine Learning Decision Support Tool Optimizes Whole Genome Sequencing Utilization in a Neonatal Intensive Care Unit.

A Machine Learning Decision Support Tool Optimizes Whole Genome Sequencing Utilization in a Neonatal Intensive Care Unit.

Journal: medRxiv : the preprint server for health sciences

Published: July 15, 2024

The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder.

The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder.

Journal: Pediatric neurology

Published: July 13, 2024

Showing 1-12 of 54

Last Updated: 09/26/2026