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Genetics

D-Index
56
Citations
15038
World Ranking
3471
National Ranking
1503

Overview

Ali Torkamani is affiliated with Scripps Health in the United States. Their research spans multiple fields within medicine and biological sciences, with a clear focus on genetics, molecular biology, and neurology.

The main fields of study for this scientist include Medicine and Biochemistry, Genetics and Molecular Biology. Subfields of particular interest are Molecular Biology, Genetics, Neurology, Psychiatry and Mental Health, and Physiology.

The research topics covered by Ali Torkamani reflect a strong emphasis on genetic and neurological health issues. These topics include Genetic Associations and Epidemiology, Parkinson's Disease Mechanisms and Treatments, Dementia and Cognitive Impairment Research, Hearing, Cochlea, Tinnitus, Genetics, Hearing Loss and Rehabilitation, Gene Expression and Cancer Classification, and Genomics and Rare Diseases.

Noteworthy recent publications include:

  • Minimum information about clinical artificial intelligence modeling: the MI-CLAIM checklist, 2020, Nature Medicine
  • Decoding the transcriptome of calcified atherosclerotic plaque at single-cell resolution, 2022, Communications Biology
  • The promise of digital healthcare technologies, 2023, Frontiers in Public Health
  • Directed remodeling of the mouse gut microbiome inhibits the development of atherosclerosis, 2020, Nature Biotechnology
  • Ebola Virus Transmission Initiated by Relapse of Systemic Ebola Virus Disease, 2021, New England Journal of Medicine

Ali Torkamani frequently collaborates with several researchers, including:

  • Shang-Fu Chen
  • Raquel Dias
  • Clifton L. Dalgard
  • J. Raphael Gibbs
  • Mina Ryten

They often publish in venues such as bioRxiv (Cold Spring Harbor Laboratory), Alzheimer's & Dementia, Nature Medicine, Research Square, and Scientific Reports.

Best Publications

  • Identification of ALK as a major familial neuroblastoma predisposition gene

    Yaël P. Mossé;Marci Laudenslager;Luca Longo;Kristina A. Cole

  • The personal and clinical utility of polygenic risk scores.

    Ali Torkamani;Nathan E. Wineinger;Eric J. Topol

  • A primer on deep learning in genomics.

    James Zou;Mikael Huss;Abubakar Abid;Pejman Mohammadi

  • Statistical analysis strategies for association studies involving rare variants

    Vikas Bansal;Ondrej Libiger;Ondrej Libiger;Ondrej Libiger;Ali Torkamani;Ali Torkamani;Nicholas J. Schork;Nicholas J. Schork

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

    Beau Norgeot;Giorgio Quer;Brett K. Beaulieu-Jones;Ali Torkamani

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

    Ruth Chia;Marya S. Sabir;Sara Bandres-Ciga

  • Pathway Analysis of Seven Common Diseases Assessed by Genome-Wide Association

    Ali Torkamani;Eric J. Topol;Nicholas J. Schork

  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

    Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman

  • Kinase mutations in human disease: interpreting genotype-phenotype relationships.

    Piya Lahiry;Ali Torkamani;Nicholas J. Schork;Robert A. Hegele

  • The importance of phase information for human genomics.

    Ryan Tewhey;Vikas Bansal;Vikas Bansal;Ali Torkamani;Ali Torkamani;Ali Torkamani;Eric J. Topol;Eric J. Topol;Eric J. Topol

  • Artificial intelligence in clinical and genomic diagnostics.

    Raquel Dias;Ali Torkamani

  • All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs.

    Andrew J. Schork;Wesley K. Thompson;Phillip Pham;Phillip Pham;Ali Torkamani;Ali Torkamani

  • CCCTC-binding factor (CTCF) and cohesin influence the genomic architecture of the Igh locus and antisense transcription in pro-B cells

    Stephanie C. Degner;Jiyoti Verma-Gaur;Timothy P. Wong;Claudia Bossen

  • High-Definition Medicine

    Ali Torkamani;Ali Torkamani;Kristian G. Andersen;Kristian G. Andersen;Steven R. Steinhubl;Steven R. Steinhubl;Eric J. Topol;Eric J. Topol

  • Reshaping Antibody Diversity

    Feng Wang;Damian C. Ekiert;Insha Ahmad;Wenli Yu

  • Whole-Genome Sequencing of a Healthy Aging Cohort

    Galina A. Erikson;Dale L. Bodian;Manuel Rueda;Bhuvan Molparia

  • Influence of donor age on induced pluripotent stem cells

    Valentina Lo Sardo;William Ferguson;Galina A Erikson;Eric J Topol

  • Efficient and sequence-independent replication of DNA containing a third base pair establishes a functional six-letter genetic alphabet

    Denis A. Malyshev;Kirandeep Dhami;Henry T. Quach;Thomas Lavergne

  • High-performance web services for querying gene and variant annotation

    Jiwen Xin;Adam Mark;Cyrus Afrasiabi;Ginger Tsueng

  • Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis

    Solveig K. Sieberts;Fan Zhu;Javier García-García;Eli Stahl

Frequent Co-Authors

Nicholas J. Schork
Nicholas J. Schork Translational Genomics Research Institute
Eric J. Topol
Eric J. Topol Scripps Research Institute
Amalio Telenti
Amalio Telenti VIR Biotechnology (United States)
Alfred L. George
Alfred L. George Northwestern University
James D. Lewis
James D. Lewis University of Pennsylvania
Bryan J. Traynor
Bryan J. Traynor National Institutes of Health
Andrew I. Su
Andrew I. Su Scripps Research Institute
Jennifer A. Kearney
Jennifer A. Kearney Northwestern University
Ann J. Feeney
Ann J. Feeney Scripps Research Institute
Thomas D. Bird
Thomas D. Bird University of Washington

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