M. De Silva

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Sebastian Lunke, Stefanie Eggers, Meredith Wilson et al. · JAMA · 2020 · 237 citations · Full text

Medicine, Child Health, Pediatrics +13

Disruption of a novel member of a sodium/hydrogen exchanger family and <i>DOCK3</i> is associated with an attention deficit hyperactivity disorder-like phenotype

M. De Silva · Journal of Medical Genetics · 2003 · 195 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Integrated multi-omics for rapid rare disease diagnosis on a national scale

Sebastian Lunke, Sophie E. Bouffler, Chirag Patel et al. · Nature Medicine · 2023 · 141 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Fate of Embryonic Stem Cells Transplanted into the Deafened Mammalian Cochlea

Bryony Coleman, Jennifer Hardman, Anne Coco et al. · Cell Transplantation · 2006 · 117 citations · Full text

Life Sciences, Cell Biology, Neuroscience +17

Survival of Partially Differentiated Mouse Embryonic Stem Cells in the Scala Media of the Guinea Pig Cochlea

Michael S. Hildebrand, Hans‐Henrik M. Dahl, Jennifer Hardman et al. · Journal of the Association for Research in Otolaryngology · 2005 · 99 citations · Full text

Life Sciences, Cell Biology, Otolaryngology +14