Lee, Brendan

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 625

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Splinter, K., Adams, D. R., Bacino, C. A., Bellen, H. J., Bernstein, J. A., Cheatle-Jarvela, A. M., Eng, C. M., Esteves, C., Gahl, W. A., Hamid, R., et al. (2018) · New England Journal of Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 359

The genome of self-complementary adeno-associated viral vectors increases Toll-like receptor 9–dependent innate immune responses in the liver

Martino, A. T., Suzuki, M., Markusic, D. M., Zolotukhin, I., Ryals, R. C., Moghimi, B., Ertl, H. C. J., Muruve, D. A., Lee, B., & Herzog, R. W. (2011) · Blood

Virus-based gene therapy researchRNA Interference and Gene Delivery

Cited by 246

Requirement of argininosuccinate lyase for systemic nitric oxide production

Erez, A., Nagamani, S. C. S., Shchelochkov, O. A., Premkumar, M. H., Campeau, P. M., Chen, Y., Garg, H. K., Li, L., Mian, A., Bertin, T. K., et al. (2011) · Nature Medicine

Nitric Oxide and Endothelin EffectsAmino Acid Enzymes and Metabolism

Cited by 233

Proteoglycan 4 Expression Protects Against the Development of Osteoarthritis

Ruan, M. Z. C., Erez, A., Guse, K., Dawson, B., Bertin, T., Chen, Y., Jiang, M.-M., Yustein, J., Gannon, F., & Lee, B. H. L. (2013) · Science Translational Medicine

Osteoarthritis Treatment and MechanismsProteoglycans and glycosaminoglycans research

Cited by 196

Loss-or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms

Chung, H.-L., Wangler, M. F., Marcogliese, P. C., Jo, J., Ravenscroft, T. A., Zuo, Z., Duraine, L., Sadeghzadeh, S., Li-Kroeger, D., Schmidt, R. E., et al. (2020) · Neuron

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 154

Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome

Napierala, D., Sam, K., Morello, R., Zheng, Q., Munivez, E., Shivdasani, R. A., & Lee, B. (2008) · Human Molecular Genetics

Osteoarthritis Treatment and MechanismsBone Metabolism and Diseases

Cited by 104

Unique Roles of TLR9- and MyD88-Dependent and -Independent Pathways in Adaptive Immune Responses to AAV-Mediated Gene Transfer

Rogers, G. L., Suzuki, M., Zolotukhin, I., Markusic, D. M., Morel, L. M., Lee, B., Ertl, H. C. J., & Herzog, R. W. (2015) · Journal of Innate Immunity

Virus-based gene therapy researchImmune Response and Inflammation

Cited by 85

AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders

Mao, D., Liu, C., Wang, L., AI-Ouran, R., Deisseroth, C., Pasupuleti, S., Kim, S. Y., Li, L., Rosenfeld, J. A., Meng, L., et al. (2024) · NEJM AI

Genomics and Rare DiseasesArtificial Intelligence in Healthcare and Education

Cited by 51

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

Long-term use of angiotensin-converting enzyme inhibitors protects against bone loss in African-American elderly men

Rianon, N., Ambrose, C. G., Pervin, H., Garcia, M., Mama, S. K., Schwartz, A. V., Lee, B., & Harris, T. (2017) · Archives of Osteoporosis

Bone health and osteoporosis researchBlood Pressure and Hypertension Studies

Cited by 22

The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics

Zhao, S., Sinson, J. C., Li, S., Rosenfeld, J. A., Zapata, G., Macakova, K., Pena, M., Maywald, B., Worley, K. C., Burrage, L. C., et al. (2025) · The American Journal of Human Genetics

Genomics and Rare DiseasesRNA Research and Splicing

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