Genome Sequencing for Diagnosing Rare Diseases
Wojcik, M. H., Lemire, G., Berger, E., Zaki, M. S., Wissmann, M., Win, W., White, S. M., Weisburd, B., Wieczorek, D., Waddell, L. B., Verboon, J. M., VanNoy, G. E., Töpf, A., Tan, T. Y., Syrbe, S., Strehlow, V., Straub, V., Stenton, S. L., Snow, H., … O’Donnell-Luria, A. (2024). Genome Sequencing for Diagnosing Rare Diseases. New England Journal of Medicine, 390(21), 1985–1997. https://doi.org/10.1056/nejmoa2314761
Columbia Affiliation:
Subjects:
Grants:
R01HD105266
(NIH – Eunice Kennedy Shriver National Institute of Child Health & Human Development)
K23HD102589
(NIH – Eunice Kennedy Shriver National Institute of Child Health & Human Development)
R01HD081256
(NIH – Eunice Kennedy Shriver National Institute of Child Health & Human Development)
U54HD090255
(NIH – Eunice Kennedy Shriver National Institute of Child Health & Human Development)
P50HD105351
(NIH – Eunice Kennedy Shriver National Institute of Child Health & Human Development)
R01EY012910
(NIH – National Eye Institute)
R01EY026904
(NIH – National Eye Institute)
P30EY014104
(NIH – National Eye Institute)
UM1HG008900
(NIH – National Human Genome Research Institute)
U01HG011755
(NIH – National Human Genome Research Institute)
R01HG009141
(NIH – National Human Genome Research Institute)
R21HG012397
(NIH – National Human Genome Research Institute)
T32HG010464
(NIH – National Human Genome Research Institute)
R01DE031261
(NIH – National Institute of Dental & Craniofacial Research)
R00DE026824
(NIH – National Institute of Dental & Craniofacial Research)
RC2DK122397
(NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01MH115957
(NIH – National Institute of Mental Health)
Publication Type:
Article
Unique ID:
10.1056/nejmoa2314761
PMID:
Journal:
Publication Date:
Data Source:
PubMed