Julian Raiman

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 377 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Ryan J. Taft, Adeline Vanderver, Richard J. Leventer et al. · The American Journal of Human Genetics · 2013 · 187 citations · Full text

Medicine, Neurology, Neuroscience +12

Glycogen storage disease type IX: High variability in clinical phenotype

Nicholas Beauchamp, Ann Dalton, Uma Ramaswami et al. · Molecular Genetics and Metabolism · 2007 · 125 citations

Life Sciences, Genetics, Molecular Genetics +12

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

Joe T.R. Clarke, Don J. Mahuran, Swati Sathe et al. · Molecular Genetics and Metabolism · 2010 · 125 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +7

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada

Anne Roscher, Jaina Patel, Stacy Hewson et al. · Molecular Genetics and Metabolism · 2014 · 122 citations

Life Sciences, Endocrinology, Molecular Biology +9