Evan E. Eichler

Top papers

• Finding the missing heritability of complex diseases

  Teri A. Manolio, Francis S. Collins, Nancy J. Cox, et al.·2009·Nature
  ↗ 8,502OA
• A Draft Sequence of the Neandertal Genome

  Richard E. Green, Johannes Krause, Adrian W. Briggs, et al.·2010·Science
  ↗ 4,512OA
• A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

  Alan E. Renton, Elisa Majounie, Adrian J. Waite, et al.·2011·Neuron
  ↗ 4,441OA
• Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data

  Chen-Shan Chin, David H. Alexander, Patrick Marks, et al.·2013·Nature Methods
  ↗ 4,313
• The complete sequence of a human genome

  Sergey Nurk, Sergey Koren, Arang Rhie, et al.·2022·Science
  ↗ 3,236OA
• Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

  David T. Miller, Margaret P Adam, Swaroop Aradhya, et al.·2010·The American Journal of Human Genetics
  ↗ 2,864OA
• The contribution of de novo coding mutations to autism spectrum disorder

  Ivan Iossifov, Brian J. O’Roak, Stephan Sanders, et al.·2014·Nature
  ↗ 2,767OA
• An integrated map of structural variation in 2,504 human genomes

  Peter H. Sudmant, Tobias Rausch, Eugene J. Gardner, et al.·2015·Nature
  ↗ 2,635OA
• The complete genome sequence of a Neanderthal from the Altai Mountains

  Kay Prüfer, Fernando Racimo, Nick Patterson, et al.·2013·Nature
  ↗ 2,384OA
• Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

  Brian J. O’Roak, Laura Vives, Santhosh Girirajan, et al.·2012·Nature
  ↗ 2,217OA
• A High-Coverage Genome Sequence from an Archaic Denisovan Individual

  Matthias Meyer, Martin Kircher, Marie-Theres Gansauge, et al.·2012·Science
  ↗ 2,094OA
• Targeted capture and massively parallel sequencing of 12 human exomes

  Sarah Ng, Emily H. Turner, Peggy D. Robertson, et al.·2009·Nature
  ↗ 2,032OA