Martin B. Delatycki

Iron-Overload–Related Disease in<i>HFE</i>Hereditary Hemochromatosis

Katrina J. Allen, Lyle C. Gurrin, Clare C. Constantine et al. · New England Journal of Medicine · 2008 · 724 citations · Full text

Medicine, Genetics, Hematology +16

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Holly A.F. Stessman, Bo Xiong, Bradley P. Coe et al. · Nature Genetics · 2017 · 580 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Anna Richards, Arn M. J. M. van den Maagdenberg, Joanna C. Jen et al. · Nature Genetics · 2007 · 452 citations

Life Sciences, Genetics, Molecular Biology +8

Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (<scp>MOXIe</scp> Study)

David R. Lynch, Melanie Chin, Martin B. Delatycki et al. · Annals of Neurology · 2020 · 296 citations · Full text

Medicine, Neurology, Pharmacology +17

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett et al. · The American Journal of Human Genetics · 2019 · 285 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17