Michele Spencer‐Manzon

Liver transplantation for glycogen storage disease type Ia

Srinevas K. Reddy, Stephanie Austin, Michele Spencer‐Manzon et al. · Journal of Hepatology · 2009 · 75 citations

Medicine, Internal Medicine, Surgery +13

Cardiac Pathology in Glycogen Storage Disease Type III

Stephanie Austin, Alan D. Proia, Michele Spencer‐Manzon et al. · JIMD Reports · 2012 · 57 citations

Medicine, Cardiology, Pathology +15

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

Maicon Landim-Vieira, Jamie R. Johnston, Weizhen Ji et al. · Frontiers in Physiology · 2020 · 31 citations · Full text

Medicine, Cardiology, Genetics +13

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death

Brent A. Penque, Leila Su, Jianghai Wang et al. · European Journal of Medical Genetics · 2018 · 30 citations

Medicine, Genetics, Molecular Genetics +16

A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings

Hongyan Chai, Autumn DiAdamo, Brittany Grommisch et al. · Frontiers in Genetics · 2019 · 18 citations · Full text

Life Sciences, Genetics, Pediatrics +17