Gallacher, Lyndon

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

Australian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., et al. (2020) · JAMA

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 239

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

Brett, G. R., Martyn, M., Lynch, F., de Silva, M. G., Ayres, S., Gallacher, L., Boggs, K., Baxendale, A., Schenscher, S., King-Smith, S., et al. (2020) · Genetics in Medicine

Genomics and Rare DiseasesEthics and Legal Issues in Pediatric Healthcare

Cited by 47

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

Francis, D. I., Stark, Z., Scheffer, I. E., Tan, T. Y., Murali, K., Gallacher, L., Amor, D. J., Goel, H., Downie, L., Stutterd, C. A., et al. (2023) · European Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 16

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

Dufour, W., Alawbathani, S., Jourdain, A.-S., Asif, M., Baujat, G., Becker, C., Budde, B., Gallacher, L., Georgomanolis, T., Ghoumid, J., et al. (2022) · Genetics in Medicine

Congenital limb and hand anomaliesdental development and anomalies

Cited by 14