Dimmock, David

Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,224

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

Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis

Rabinovich, S., Adler, L., Yizhak, K., Sarver, A., Silberman, A., Agron, S., Stettner, N., Sun, Q., Brandis, A., Helbling, D., et al. (2015) · Nature

Biochemical and Molecular ResearchAmino Acid Enzymes and Metabolism

Cited by 382

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

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.

Petrikin, J. E., Cakici, J. A., Clark, M. M., Willig, L. K., Sweeney, N. M., Farrow, E. G., Saunders, C. J., Thiffault, I., Miller, N. A., Zellmer, L., et al. (2018) · npj Genomic Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 229

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

Immune responses and immunosuppressive strategies for adeno-associated virus-based gene therapy for treatment of central nervous system disorders: current knowledge and approaches

Prasad, S., Dimmock, D. P., Greenberg, B., Walia, J. S., Sadhu, C., Tavakkoli, F., & Lipshutz, G. S. (2022) · Human Gene Therapy

Virus-based gene therapy researchRNA Interference and Gene Delivery

Cited by 81

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

Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption

Franck, L. S., Kriz, R. M., Rego, S., Garman, K., Hobbs, C., & Dimmock, D. (2021) · The Journal of Pediatrics

Health Policy Implementation ScienceGenomics and Rare Diseases

Cited by 59