Concepedia

Heather Best

HB

Statistics

Publications

8

Citations

406

H-Index

8

Active since

2011

Affiliations

Murdoch Children's Research Institute(Current)

Children's Hospital at Westmead

The University of Sydney

Broad Institute

Massachusetts General Hospital

Heather Best is an author at Murdoch Children's Research Institute specializing in life sciences, genetics, and muscular dystrophy.

ORCID

Publications per year

2011–2019

8

Publications

8

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Gina O’Grady, Heather Best, Tamar E. Sztal et al. · The American Journal of Human Genetics · 2016 · 106 citations · Full text

, , +13

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there

Gina O’Grady, Monkol Lek, Shireen R. Lamandé et al. · Annals of Neurology · 2016 · 70 citations

, , +17

Variants in <i>SLC18A3</i> , vesicular acetylcholine transporter, cause congenital myasthenic syndrome

Gina O’Grady, Corien Verschuuren, Michaela Yuen et al. · Neurology · 2016 · 64 citations

, , +14

Validation of a Research Case Definition of Gulf War Illness in the 1991 US Military Population

Vincent G. Iannacchione, Jill A. Dever, Carla Bann et al. · Neuroepidemiology · 2011 · 50 citations · Full text

, , +7

Infantile haemangioma expresses embryonic stem cell markers

Tinte Itinteang, Swee T. Tan, Helen D. Brasch et al. · Journal of Clinical Pathology · 2012 · 46 citations

, , +14

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