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Author Details

Ali Torkamani
Scripps Science Institute
2005
123
46
PMIDPaper TitleJournal TitlePublished Year
36541008HIGH-PERFORMANCE COMPUTING MEETS HIGH-PERFORMANCE MEDICINE.Pac Symp Biocomput2023
37489384Identifying Health-Related Conditions Associated with Tinnitus in Young Adults.Audiol Res2023
37783963Polygenic Risk Score-Based Association Analysis of Speech-in-Noise and Hearing Threshold Measures in Healthy Young Adults with Self-reported Normal Hearing.J Assoc Res Otolaryngol2023
36695634Genome-Wide Analysis of Structural Variants in Parkinson Disease.Ann Neurol2023
35277577Impact of polygenic risk communication: an observational mobile application-based coronary artery disease study.NPJ Digit Med2022
35737950Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.Brain2022
35789254Gain of function of a metalloproteinase associated with multiple myeloma, bicuspid aortic valve, and Von Hippel-Lindau syndrome.Biochem J2022
36581688A genome-wide association study of tinnitus reveals shared genetic links to neuropsychiatric disorders.Sci Rep2022
36271454Nidogen-1 could play a role in diabetic kidney disease development in type 2 diabetes: a genome-wide association meta-analysis.Hum Genomics2022
35866887Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.Mov Disord2022
36302787Genetically-informed prediction of short-term Parkinson's disease progression.NPJ Parkinsons Dis2022
36195294Suprathreshold Auditory Measures for Detecting Early-Stage Noise-Induced Hearing Loss in Young Adults.J Am Acad Audiol2022
36224302Decoding the transcriptome of calcified atherosclerotic plaque at single-cell resolution.Commun Biol2022
36344548Machine learning-based prediction of cognitive outcomes in de novo Parkinson's disease.NPJ Parkinsons Dis2022
34860719AudioChip: A Deep Phenotyping Approach for Deconstructing and Quantifying Audiological Phenotypes of Self-Reported Speech Perception Difficulties.Ear Hear2022
35072059Co-Inference of Data Mislabelings Reveals Improved Models in Genomics and Breast Cancer Diagnostics.Front Artif Intell2022
33468057Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines.BMC Genomics2021
33789012Ebola Virus Transmission Initiated by Relapse of Systemic Ebola Virus Disease.N Engl J Med2021
33589841Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.Nat Genet2021
33637779Identification of an N-acetylneuraminic acid-presenting bacteria isolated from a human microbiome.Sci Rep2021
34196841Monogenic and Polygenic Models of Coronary Artery Disease.Curr Cardiol Rep2021
34282101Association Analysis of Candidate Gene Polymorphisms and Tinnitus in Young Musicians.Otol Neurotol2021
33972721Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection.Genet Med2021
33944973Correction to: Largeâ¿¿scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease.Acta Neuropathol2021
33431453Kickboxing a cardiomyopathy: mitochondrial sequencing provides answer for young athlete and her family.BMJ Case Rep2021
32232851Novel exomic rare variants associated with venous thrombosis.Br J Haematol2020
33225976Genotype imputation and variability in polygenic risk score estimation.Genome Med2020
32918447SCOR: A secure international informatics infrastructure to investigate COVID-19.J Am Med Inform Assoc2020
32601912Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease.Acta Neuropathol2020
32908275Minimum information about clinical artificial intelligence modeling: the MI-CLAIM checklist.Nat Med2020
32541956Directed remodeling of the mouse gut microbiome inhibits the development of atherosclerosis.Nat Biotechnol2020
29200193Immunogenetic factors driving formation of ultralong VH CDR3 in Bos taurus antibodies.Cell Mol Immunol2019
31847883Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.Genome Med2019
31748530Ranking of non-coding pathogenic variants and putative essential regions of the human genome.Nat Commun2019
31744524Artificial intelligence in clinical and genomic diagnostics.Genome Med2019
32309803The Autoimmune Protocol Diet Modifies Intestinal RNA Expression in Inflammatory Bowel Disease.Crohns Colitis 3602019
31600826Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.Ann Neurol2019
31002792Polygenic Risk Scores Expand to Obesity.Cell2019
30911429Mechanical activation of noncoding-RNA-mediated regulation of disease-associated phenotypes in human cardiomyocytes.Nat Biomed Eng2019
30600271Physician Communication of Genomic Results in a Diagnostic Odyssey Case Series.Pediatrics2019
30478442A primer on deep learning in genomics.Nat Genet2019
29224152Microdroplet PCR for Highly Multiplexed Targeted Bisulfite Sequencing.Methods Mol Biol2018
30220472Drilling for Insight: Forecasting Phenotype from Genotype.Trends Genet2018
29916375When genomics goes digital.Lancet2018
30042899Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson's disease.PeerJ2018
30289737Returning Results to Family Members: Professional Duties in Genomics Research in the United States.J Leg Med2018
30452684Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.Hum Mol Genet2018
30528432Unveiling the Role of the Most Impactful Cardiovascular Risk Locus through Haplotype Editing.Cell2018
29743677Diverse reprogramming codes for neuronal identity.Nature2018
29791457A feasibility study of colorectal cancer diagnosis via circulating tumor DNA derived CNV detection.PLoS One2018
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Collaborators

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Eric J Topol
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Sarah E Topol
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1] The Scripps Translational Science Institute
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Ryan Tewhey
University of Maine
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Mike A Nalls
Center for Alzheimer's and Related Dementias, National Institutes of Health
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William C Ferguson
The Scripps Research Institute
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Erick R Scott
Icahn School of Medicine at Mount Sinai
Co-authored papers 4
Ondrej Libiger
The Qualcomm Institute, University of California
Co-authored papers 4
Tierney Phillips
Bluestar Genomics Inc.
Co-authored papers 4
Pavel Chubukov
The Scripps Research Institute
Co-authored papers 3
Steven R Head
Co-authored papers 3
Valentina Lo Sardo
University of Wisconsin-Madison
Co-authored papers 3
Toshiko Tanaka
National Institute on Aging, National Institutes of Health
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Luigi Ferrucci
National Institute on Aging, National Institutes of Health
Co-authored papers 3
Burcu F Darst
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