Stefano Duga

Overview

Best Publications

• Genomewide Association Study of Severe Covid-19 with Respiratory Failure.

  David Ellinghaus;Frauke Degenhardt;Luis Bujanda;Maria Buti

  1793
  Citations

• Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.

  Sekar Kathiresan;Benjamin F Voight;Shaun Purcell;Kiran Musunuru

  1232
  Citations

• Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

  Amit V. Khera;Amit V. Khera;Hong Hee Won;Gina M. Peloso;Gina M. Peloso;Kim S. Lawson

  909
  Citations

• Loss-of-function mutations in APOC3, triglycerides, and coronary disease

  Jacy Crosby;Gina M. Peloso;Gina M. Peloso;Paul L. Auer;David R. Crosslin

  892
  Citations

• Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

  Ron Do;Ron Do;Nathan O. Stitziel;Hong Hee Won;Hong Hee Won;Anders Berg Jørgensen

  723
  Citations

• Inactivating mutations in NPC1L1 and protection from coronary heart disease

  Nathan O. Stitziel;Hong Hee Won;Alanna C. Morrison;Gina M. Peloso

  565
  Citations

• Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

  Nathan O. Stitziel;Kathleen E. Stirrups;Nicholas G. D. Masca;Jeanette Erdmann

  475
  Citations

• Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

  B N Smith;N Ticozzi;C Fallini;A S Gkazi

  427
  Citations

• Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

  Gina M. Peloso;Paul L. Auer;Joshua C. Bis;Arend Voorman

  377
  Citations

• Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.

  Roberto Cilia;Sara Tunesi;Giorgio Marotta;Emanuele Cereda

  363
  Citations

• Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease

  Thomas R. Webb;Jeanette Erdmann;Kathleen E. Stirrups;Nathan O. Stitziel

  257
  Citations

• Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels.

  Connor A. Emdin;Amit V. Khera;Pradeep Natarajan;Derek Klarin

  217
  Citations

• Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

  Bradley N Smith;Simon D Topp;Claudia Fallini;Hideki Shibata

  197
  Citations

• The molecular basis of quantitative fibrinogen disorders.

  R. Asselta;S. Duga;Maria Luisa Tenchini

  194
  Citations

• Genetic diagnosis of haemophilia and other inherited bleeding disorders.

  Flora Peyvandi;G. Jayandharan;M. Chandy;A. Srivastava

  187
  Citations

• Congenital factor XI deficiency: an update.

  Stefano Duga;Ophira Salomon

  186
  Citations

• Association of rare and common variation in the lipoprotein lipase gene with coronary artery disease.

  Amit V. Khera;Amit V. Khera;Hong Hee Won;Gina M. Peloso;Gina M. Peloso;Colm O'Dushlaine

  184
  Citations

• cDNA cloning of turtle prion protein.

  Tatjana Simonic;Stefano Duga;Bice Strumbo;Rosanna Asselta

  157
  Citations

• A frequent oligogenic involvement in congenital hypothyroidism

  Tiziana de Filippis;Giulia Gelmini;Elvezia Paraboschi;Maria Cristina Vigone

  129
  Citations

• Genetic Association and Altered Gene Expression of Mir-155 in Multiple Sclerosis Patients

  Elvezia Maria Paraboschi;Giulia Soldà;Donato Gemmati;Elisa Orioli

  127
  Citations