Chowdhury, Shimul

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

Whole exome sequencing in patients with white matter abnormalities

Vanderver, A., Simons, C., Helman, G., Crawford, J., Wolf, N. I., Bernard, G., Pizzino, A., Schmidt, J. L., Takanohashi, A., Miller, D., et al. (2016) · Annals of Neurology

Genomics and Rare DiseasesHereditary Neurological Disorders

Cited by 145

Decreased expression of tumor necrosis factor family receptors involved in humoral immune responses in preterm neonates

Kaur, K., Chowdhury, S., Greenspan, N. S., & Schreiber, J. R. (2007) · Blood

T-cell and B-cell ImmunologyImmunodeficiency and Autoimmune Disorders

Cited by 101

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

Owen, M. J., Niemi, A.-K., Dimmock, D. P., Speziale, M., Nespeca, M., Chau, K. K., Van Der Kraan, L., Wright, M. S., Hansen, C., Veeraraghavan, N., et al. (2021) · New England Journal of Medicine

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 73