Farnaes, Lauge

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

Clark, M. M., Stark, Z., Farnaes, L., Tan, T. Y., White, S. M., Dimmock, D., & Kingsmore, S. F. (2018) · npj Genomic Medicine

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

Cited by 619

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

Farnaes, L., Hildreth, A., Sweeney, N. M., Clark, M. M., Chowdhury, S., Nahas, S., Cakici, J. A., Benson, W., Kaplan, R. H., Kronick, R., et al. (2018) · npj Genomic Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 445

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

Clark, M. M., Hildreth, A., Batalov, S., Ding, Y., Chowdhury, S., Watkins, K., Ellsworth, K., Camp, B., Kint, C. I., Yacoubian, C., et al. (2019) · Science Translational Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 300

Rapid whole genome sequencing has clinical utility in children in the PICU

Sanford, E. F., Clark, M. M., Farnaes, L., Williams, M. R., Perry, J. C., Ingulli, E. G., Sweeney, N. M., Doshi, A., Gold, J. J., Briggs, B., et al. (2019) · Pediatric Critical Care Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 150

Genomic sequencing in acutely ill infants: what will it take to demonstrate clinical value?

Grosse, S. D., & Farnaes, L. (2019) · Genetics in Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 19