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Our publications

Publications, reports & submissions

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice

Ingrid E Scheffer, Caitlin A Bennett, Deepak Gill, Michelle G de Silva, Kirsten Boggs, Justine Marum, et al. Developmental Medicine & Child Neurology.

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.

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.
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