Torkamani, Ali

Identification of ALK as a major familial neuroblastoma predisposition gene

Mossé, Y. P., Laudenslager, M., Longo, L., Cole, K. A., Wood, A., Attiyeh, E. F., Laquaglia, M. J., Sennett, R., Lynch, J. E., Perri, P., et al. (2008) · Nature

Neuroblastoma Research and TreatmentsNeurofibromatosis and Schwannoma Cases

Cited by 1,407

A primer on deep learning in genomics

Zou, J., Huss, M., Abid, A., Mohammadi, P., Torkamani, A., & Telenti, A. (2019) · Nature Genetics

Machine Learning in BioinformaticsGenomics and Phylogenetic Studies

Cited by 891

Minimum information about clinical artificial intelligence modeling: the MI-CLAIM checklist.

Norgeot, B., Quer, G., Beaulieu-Jones, B. K., Torkamani, A., Dias, R., Gianfrancesco, M., Arnaout, R., Kohane, I. S., Saria, S., Topol, E., et al. (2020) · Nature Medicine

Artificial Intelligence in Healthcare and EducationExplainable Artificial Intelligence (XAI)

Cited by 665

Statistical analysis strategies for association studies involving rare variants

Bansal, V., Libiger, O., Torkamani, A., & Schork, N. J. (2010) · Nature Reviews Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 455

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Chia, R., Sabir, M. S., Bandres-Ciga, S., Saez-Atienzar, S., Reynolds, R. H., Gustavsson, E., Walton, R. L., Ahmed, S., Viollet, C., Ding, J., et al. (2021) · Nature Genetics

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 438

Kinase mutations in human disease: interpreting genotype–phenotype relationships

Lahiry, P., Torkamani, A., Schork, N. J., & Hegele, R. A. (2010) · Nature Reviews Genetics

Genomics and Rare DiseasesProtein Kinase Regulation and GTPase Signaling

Cited by 420

Influence of donor age on induced pluripotent stem cells

Lo Sardo, V., Ferguson, W., Erikson, G. A., Topol, E. J., Baldwin, K. K., & Torkamani, A. (2017) · Nature Biotechnology

Pluripotent Stem Cells ResearchTelomeres, Telomerase, and Senescence

Cited by 223

Coexpression network analysis of neural tissue reveals perturbations in developmental processes in schizophrenia

Torkamani, A., Dean, B., Schork, N. J., & Thomas, E. A. (2010) · Genome Research

Schizophrenia research and treatmentBioinformatics and Genomic Networks

Cited by 134

Gain‐of‐function ADCY5 mutations in familial dyskinesia with facial myokymia

Chen, Y., Friedman, J. R., Chen, D., Chan, G. C. ‐., Bloss, C. S., Hisama, F. M., Topol, S. E., Carson, A. R., Pham, P. H., Bonkowski, E. S., et al. (2014) · Annals of Neurology

Neurological and metabolic disordersDeep Brain Stimulation and Movement Disorders

Cited by 126

Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups

Kaivola, K., Shah, Z., Chia, R., International LBD Genomics Consortium, Black, S. E., Gan-Or, Z., Keith, J., Masellis, M., Rogaeva, E., Brice, A., et al. (2022) · Brain

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 65

SCOR: A secure international informatics infrastructure to investigate COVID-19

Raisaro, J. L., Marino, F., Troncoso-Pastoriza, J., Beau-Lejdstrom, R., Bellazzi, R., Murphy, R., Bernstam, E. V., Wang, H., Bucalo, M., Chen, Y., et al. (2020) · Journal of the American Medical Informatics Association

Privacy-Preserving Technologies in DataCOVID-19 Digital Contact Tracing

Cited by 40

Monogenic and Polygenic Models of Coronary Artery Disease

Muse, E. D., Chen, S.-F., & Torkamani, A. (2021) · Current Cardiology Reports

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 27

Rapid, Reference-Free human genotype imputation with denoising autoencoders

Dias, R., Evans, D., Chen, S.-F., Chen, K.-Y., Loguercio, S., Chan, L., & Torkamani, A. (2022) · eLife

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 16

Rapid, Reference-Free Human Genotype Imputation with Denoising Autoencoders

Dias, R., Evans, D., Chen, S.-F., Chen, K.-Y., Chan, L., & Torkamani, A. (2021) · eLife

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 16

Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson’s disease

Molparia, B., Schrader, B. N., Cohen, E., Wagner, J. L., Gupta, S. R., Gould, S., Hwynn, N., Spencer, E. G., & Torkamani, A. (2018) · PeerJ

Parkinson's Disease Mechanisms and TreatmentsDeep Brain Stimulation and Movement Disorders

Cited by 15