Dorrani, Naghmeh

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Ji, J., Lee, H., Argiropoulos, B., Dorrani, N., Mann, J., Martinez-Agosto, J. A., Gomez-Ospina, N., Gallant, N., Bernstein, J. A., Hudgins, L., et al. (2015) · European Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27