Katherine J. Anderson

Pediatrics | Hospital Medicine | Medical Genetics

111 Colchester Ave
Burlington, VT 05401

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 11 publications

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

Journal: American journal of medical genetics. Part A

Published: February 26, 2026

Clinical practice considerations for restarting pegvaliase in adults with phenylketonuria.

Clinical practice considerations for restarting pegvaliase in adults with phenylketonuria.

Journal: Molecular genetics and metabolism reports

Published: February 06, 2026

Determination of age-specific reference intervals for ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry.

Determination of age-specific reference intervals for ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: November 18, 2025

Palliative Chemotherapy is Well Tolerated in a Patient With Metastatic Colorectal Cancer Due to Bloom Syndrome With a Novel BLM Mutation.

Palliative Chemotherapy is Well Tolerated in a Patient With Metastatic Colorectal Cancer Due to Bloom Syndrome With a Novel BLM Mutation.

Journal: Journal of pediatric hematology/oncology

Published: April 15, 2025

Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomalies.

Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomalies.

Journal: HGG advances

Published: October 01, 2024

MADD-like pattern of acylcarnitines associated with sertraline use.

MADD-like pattern of acylcarnitines associated with sertraline use.

Journal: Molecular genetics and metabolism reports

Published: July 31, 2024

Ring Chromosome 14 with a Terminal 14q32.33 Deletion.

Ring Chromosome 14 with a Terminal 14q32.33 Deletion.

Journal: Journal of the Association of Genetic Technologists

Published: June 02, 2024

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.

Journal: Pediatric neurology

Published: May 16, 2023

A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.

A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.

Journal: Journal of inherited metabolic disease

Published: January 24, 2022

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.

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

Published: August 19, 2020

Tissue modification of the lateral compartment of the tibio-femoral joint following in vivo varus loading in the rat.

Tissue modification of the lateral compartment of the tibio-femoral joint following in vivo varus loading in the rat.

Journal: Journal of biomechanical engineering

Published: October 23, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026