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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 · 374 citations · Full text

Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy

Carol Macmillan, T H Kirkham, Katherine Fu et al. · Neurology · 1998 · 108 citations

Detecting rearrangements in children using subtelomeric FISH and SKY

Blaise Clarkson, Katerina Pavenski, Lucie Dupuis et al. · American Journal of Medical Genetics · 2002 · 97 citations

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Dong Li, Qin Wang, Allan Bayat et al. · Journal of Clinical Investigation · 2023 · 41 citations · Full text

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

Shyam K. Akula, Allen Y. Chen, Jennifer E. Neil et al. · JAMA Neurology · 2023 · 29 citations · Full text