Christopher M. Richmond

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

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Sarah Stephenson, Gregory Costain, Laura E.R. Blok et al. · The American Journal of Human Genetics · 2022 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Eline A. Verberne, Shuxiang Goh, Jade England et al. · Genetics in Medicine · 2020 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

Lauren Akesson, Stefanie Eggers, Clare J. Love et al. · European Journal of Human Genetics · 2019 · 33 citations · Full text

Medicine, Genetics, Pediatrics +17

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

Jet van der Spek, Joery den Hoed, Lot Snijders Blok et al. · Genetics in Medicine · 2022 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8