Kim L McBride

10PUBLICATIONS
50CO-AUTHORS
Medical devicesCardiology (incl. cardiovascular diseases)Gene mappingDevelopmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)
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Publications (10)

|Sep 06, 2024
Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve.

Steven G Carlisle, Hasan Albasha, Hector I Michelena

|Sep 08, 2023
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.

Benjamin J Landis, Lindsey R Helvaty, Gabrielle C Geddes

|Jan 08, 2023
Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease.

Marilena Melas, Eleftherios T Beltsios, Antonis Adamou

|Jun 23, 2022
Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.

David M Gordon, David Cunningham, Gloria Zender

|Dec 03, 2021
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.

Marilena Melas, Esko A Kautto, Samuel J Franklin

|Feb 19, 2021
POLRMT mutations impair mitochondrial transcription causing neurological disease.

Monika Oláhová, Bradley Peter, Zsolt Szilagyi

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