Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Benjamin Michael Neale, Ph.D.

Co-Author

This page shows the publications co-authored by Benjamin Neale and Daniel MacArthur.
Connection Strength

1.706
  1. Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 Sep; 597(7874):E3-E4.
    View in: PubMed
    Score: 0.246
  2. Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 Feb; 590(7846):E53.
    View in: PubMed
    Score: 0.236
  3. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443.
    View in: PubMed
    Score: 0.225
  4. A synthetic-diploid benchmark for accurate variant-calling evaluation. Nat Methods. 2018 08; 15(8):595-597.
    View in: PubMed
    Score: 0.198
  5. Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. Am J Hum Genet. 2018 06 07; 102(6):1204-1211.
    View in: PubMed
    Score: 0.196
  6. Response to 'Predicting the diagnosis of autism spectrum disorder using gene pathway analysis'. Mol Psychiatry. 2014 Aug; 19(8):859-61.
    View in: PubMed
    Score: 0.143
  7. Author Correction: A structural variation reference for medical and population genetics. Nature. 2021 Feb; 590(7846):E55.
    View in: PubMed
    Score: 0.059
  8. A structural variation reference for medical and population genetics. Nature. 2020 05; 581(7809):444-451.
    View in: PubMed
    Score: 0.056
  9. Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides. Genome Res. 2018 07; 28(7):968-974.
    View in: PubMed
    Score: 0.049
  10. Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS Genet. 2018 05; 14(5):e1007329.
    View in: PubMed
    Score: 0.049
  11. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017 Apr; 49(4):504-510.
    View in: PubMed
    Score: 0.045
  12. Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. Nat Commun. 2016 09 13; 7:12869.
    View in: PubMed
    Score: 0.044
  13. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 08 18; 536(7616):285-91.
    View in: PubMed
    Score: 0.043
  14. A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. Nat Commun. 2016 08 09; 7:12342.
    View in: PubMed
    Score: 0.043
  15. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 Sep; 46(9):944-50.
    View in: PubMed
    Score: 0.038
  16. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013 Jan 23; 77(2):235-42.
    View in: PubMed
    Score: 0.034
Connection Strength
The connection strength for co-authors is the sum of the scores for each of their shared publications.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.