Jim McGill

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study

Bridget Wilcken, Marion Haas, Pamela Joy et al. · The Lancet · 2007 · 184 citations

Medicine, Child Health, Pediatrics +14

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

Bridget Wilcken, Marion Haas, Pamela Joy et al. · PEDIATRICS · 2009 · 165 citations

Public Health, Child Health, Pediatrics +17

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2016 · 147 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

Andreas Zankl, Emma L. Duncan, Paul Leo et al. · The American Journal of Human Genetics · 2012 · 114 citations · Full text

Medicine, Genetics, Molecular Biology +10

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

Mehmet Umut Akyol, Tord D. Alden, Hernán Amartino et al. · Orphanet Journal of Rare Diseases · 2019 · 114 citations · Full text

Life Sciences, Neurology, Pathology +14