Publications, reports & submissions
Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screening
Thomas A Forbes, Jane Wallace, Smitha Kumble, Martin B Delatycki, Zornitza Stark. Journal of Paediatrics and Child Health. 2022.
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review
Sarah U. Morton, John Christodoulou, Gregory Costain, Francesco Muntoni, Emma Wakeling, Monica H. Wojcik, et al. JAMA Neurology. 2022.
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
Byrne AB, Brouillard P, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, et al. Science Translational Medicine. 2022.
Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life
Lauren Kelada, Claire Wakefield, Nada Vidic, David S Armstrong, Bruce Bennetts, Kirsten Boggs, et al. BMJ Open Respiratory Research. 2022.
Neural Epidermal Growth Factor-Like Like Protein 2 Is Expressed in Human Oligodendroglial Cell Types
Mohammed R Shaker, Amna Kahtan, Renuka Prasad, Ju-Hyun Lee, Giovanni Pietrogrande, Hanna C Leeson, et al. Frontiers in Cell Developmental Biology. 2022.
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children
Ilias Goranitis, You Wu, Sebastian Lunke, Susan M White, Tiong Y Tan, Alison Yeung, et al. Genetics in Medicine. 2022.
Ethylmalonic encephalopathy masquerading as meningococcemia
Ari Elliot Horton, Kai Mun Hong, Dinusha Pandithan, Meredith Allen, Caroline Killick, Stacy Goergen, et al. Cold Spring Harbor Molecular Case Studies. 2022.
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease
Richard G Lee, Shanti Balasuramaniam, Maike Stentenbach, Tom Kralj, Timothy McCubbin, Benjamin Padman, et al. Human Molecular Genetics. 2022.
Living with a genetic, undiagnosed or rare disease: A longitudinal journalling study through the COVID-19 pandemic
Byun M, Feller H, Ferrie M, Best S. Health Expectations. 2022.
Evaluation of a Genetics Education Program for Health Interpreters: A Pilot Study
Vidgen ME, Fowles LF, Istiko SN, Evans E, Cutler K, Sullivan K, et al. Frontiers in Genetics. 2022.