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Our publications

Publications, reports & submissions

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

Marina T. Di Stefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, et al. Genetics in Medicine. 2022.

Structured approaches to implementation of clinical genomics: A scoping review

Helen L. Brown, Isabella A. Sherburn, Clara Gaff, Natalie Taylor, Stephanie Best. Genetics in Medicine. 2022.

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.

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.
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