Ohsumi, Toshiro K

The microglial sensome revealed by direct RNA sequencing

Hickman, S. E., Kingery, N. D., Ohsumi, T. K., Borowsky, M. L., Wang, L.-C., Means, T. K., & El Khoury, J. (2013) · Nature Neuroscience

Neuroinflammation and Neurodegeneration MechanismsSingle-cell and spatial transcriptomics

Cited by 1,511

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Talkowski, M. E., Rosenfeld, J. A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A. M., et al. (2012) · Cell

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 577

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

Jabara, H. H., Boyden, S. E., Chou, J., Ramesh, N., Massaad, M. J., Benson, H., Bainter, W., Fraulino, D., Rahimov, F., Sieff, C., et al. (2016) · Nature Genetics

Iron Metabolism and DisordersImmunodeficiency and Autoimmune Disorders

Cited by 279

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

Dobbs, K., Domínguez Conde, C., Zhang, S.-Y., Parolini, S., Audry, M., Chou, J., Haapaniemi, E., Keles, S., Bilic, I., Okada, S., et al. (2015) · New England Journal of Medicine

Immunodeficiency and Autoimmune DisordersBlood disorders and treatments

Cited by 201

The CIP2A–TOPBP1 axis safeguards chromosome stability and is a synthetic lethal target for BRCA-mutated cancer

Adam, S., Rossi, S. E., Moatti, N., De Marco Zompit, M., Xue, Y., Ng, T. F., Álvarez-Quilón, A., Desjardins, J., Bhaskaran, V., Martino, G., et al. (2021) · Nature Cancer

DNA Repair MechanismsBRCA gene mutations in cancer

Cited by 121