Carolyn D Applegate

4PUBLICATIONS
43CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseases
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Publications (4)

|Mar 17, 2026
Phenotype-integrated reinterpretation of laboratory-reported <i>ABCA4</i> gene sequencing results improves molecular diagnostic rate in Black/non-White patients and those with late-onset Stargardt macular dystrophy.

Dorothy T Wang, Bani Antonio-Aguirre, Annabelle Pan

|Feb 03, 2026
Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case Series.

Krista S Schatz, Carolyn D Applegate, Allan J Belzberg

|Aug 29, 2024
A Genotype/Phenotype Study of <i>KDM5B</i>-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

Maria Carla Borroto, Coralie Michaud, Chloé Hudon

|Sep 23, 2016
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Mir Reza Bekheirnia, Nasim Bekheirnia, Matthew N Bainbridge

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Frequent Collaborators

1 joint publications

Dorothy T Wang

1 joint publications

Bani Antonio-Aguirre

1 joint publications

Annabelle Pan

1 joint publications

Maria Ludovica Ruggeri