Julien Marcadier

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Andrew Orr, Marie‐Pierre Dubé, Julien Marcadier et al. · PLoS ONE · 2007 · 164 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Replication Inhibitors Modulate Instability of an Expanded Trinucleotide Repeat at the Myotonic Dystrophy Type 1 Disease Locus in Human Cells

Rachel Lau, Julien Marcadier, David Chitayat et al. · The American Journal of Human Genetics · 2003 · 85 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Vitamin D–Binding Protein Deficiency and Homozygous Deletion of the <i>GC</i> Gene

Clark M. Henderson, Susan L. Fink, Hanan Bassyouni et al. · New England Journal of Medicine · 2019 · 72 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

Julien Marcadier, Amanda M. Smith, Daniela Pohl et al. · Orphanet Journal of Rare Diseases · 2013 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in a novel serine protease PRSS56 in families with nanophthalmos.

Andrew Orr, Marie‐Pierre Dubé, Juan Carlos Zenteno et al. · PubMed · 2011 · 51 citations · Full text

Medicine, Genetics, Molecular Genetics +17