World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
66
Citations
23635
World Ranking
2580
National Ranking
330

Overview

Slavé Petrovski is affiliated with AstraZeneca (United Kingdom) and has an extensive research portfolio in the fields of Biochemistry, Genetics and Molecular Biology, and Medicine. Their work spans several subfields, including Genetics, Molecular Biology, Cancer Research, Pulmonary and Respiratory Medicine, and Pathology and Forensic Medicine.

Their research primarily addresses topics such as Genomics and Rare Diseases, Genetic Associations and Epidemiology, Genetics and Neurodevelopmental Disorders, Cancer Genomics and Diagnostics, Genomic Variations and Chromosomal Abnormalities, Bioinformatics and Genomic Networks, and Epigenetics and DNA Methylation.

Slavé Petrovski has published research in a number of scientific venues, including bioRxiv (Cold Spring Harbor Laboratory), Nature, Nature Communications, The American Journal of Human Genetics, and Nature Genetics.

Recent notable papers include:

  • Plasma proteomic associations with genetics and health in the UK Biobank, 2023, Nature
  • Rare variant contribution to human disease in 281,104 UK Biobank exomes, 2021, Nature
  • Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank, 2021, Nature Genetics
  • Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis, 2022, Nature Genetics
  • The role of polygenic risk and susceptibility genes in breast cancer over the course of life, 2020, Nature Communications

The scientist has collaborated frequently with several co-authors, including Ryan S. Dhindsa, Quanli Wang, Dimitrios Vitsios, Andrew R. Harper, and Dirk S. Paul. These collaborations reflect recurring partnerships evident across multiple publications.

Best Publications

  • De novo mutations in epileptic encephalopathies

    Andrew S. Allen;Samuel F. Berkovic;Patrick Cossette;Norman Delanty

  • Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

    Elizabeth T. Cirulli;Brittany N Lasseigne;Slave Petrovski;Peter C Sapp

  • Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

    Slavé Petrovski;Quanli Wang;Erin L. Heinzen;Andrew S. Allen

  • Diagnostic Utility of Exome Sequencing for Kidney Disease

    Emily E Groopman;Maddalena Marasa;Sophia Cameron-Christie;Slavé Petrovski

  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Alan E. Renton;Nicola Ticozzi

  • Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers.

    Nina Mars;Jukka T Koskela;Pietari Ripatti;Tuomo T J Kiiskinen

  • Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.

    Slavé Petrovski;Slavé Petrovski;Vimla Aggarwal;Jessica L Giordano;Melissa Stosic

  • Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

    Bassel Abou-Khalil;Pauls Auce;Andreja Avbersek;Melanie Bahlo

  • Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

    Xiaolin Zhu;Slavé Petrovski;Slavé Petrovski;Pingxing Xie;Pingxing Xie;Elizabeth K. Ruzzo

  • Rare variant contribution to human disease in 281,104 UK Biobank exomes.

    Quanli Wang;Ryan S. Dhindsa;Keren Carss;Andrew R. Harper

  • Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.

    Joseph D. Szustakowski;Suganthi Balasubramanian;Erika Kvikstad;Shareef Khalid

  • Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine.

    Slavé Petrovski;Slavé Petrovski;David B. Goldstein

  • Sequencing studies in human genetics: design and interpretation

    David B. Goldstein;Andrew Allen;Jonathan Keebler;Elliott H. Margulies

  • KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.

    Carol J. Milligan;Melody Li;Elena V. Gazina;Sarah E. Heron

  • De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

    Candace T. Myers;Jacinta M. McMahon;Amy L. Schneider;Slavé Petrovski;Slavé Petrovski

  • Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

    Richard Anney;A. Avbersek;D. Balding;L. Baum

  • Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

    Richard D. Bagnall;Douglas E. Crompton;Slavé Petrovski;Lien Lam

  • An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.

    Slavé Petrovski;Slavé Petrovski;Jamie L. Todd;Jamie L. Todd;Michael T. Durheim;Michael T. Durheim;Quanli Wang

  • Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

    Silke Appenzeller;Rudi Balling;Nina Barisic;Stéphanie Baulac

  • Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Nicola Ticozzi

Frequent Co-Authors

David Goldstein
David Goldstein University of New South Wales
Terence J. O'Brien
Terence J. O'Brien Monash University
Samuel F. Berkovic
Samuel F. Berkovic University of Melbourne
Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Erin L. Heinzen
Erin L. Heinzen University of North Carolina at Chapel Hill
Norman Delanty
Norman Delanty Beaumont Hospital
Anthony G Marson
Anthony G Marson University of Liverpool
Vandana Shashi
Vandana Shashi Duke University
Gianpiero L. Cavalleri
Gianpiero L. Cavalleri Royal College of Surgeons in Ireland
Daniel H. Lowenstein
Daniel H. Lowenstein University of California, San Francisco

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