Harvard Catalyst Profiles

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

Mark Joseph Daly, Ph.D.

Co-Author

This page shows the publications co-authored by Mark Daly and Daniel MacArthur.
Connection Strength

4.138
  1. Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 Sep; 597(7874):E3-E4.
    View in: PubMed
    Score: 0.248
  2. Author Correction: Evaluating drug targets through human loss-of-function genetic variation. Nature. 2021 Feb; 590(7846):E56.
    View in: PubMed
    Score: 0.238
  3. Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 Feb; 590(7846):E53.
    View in: PubMed
    Score: 0.238
  4. Author Correction: Transcript expression-aware annotation improves rare variant interpretation. Nature. 2021 Feb; 590(7846):E54.
    View in: PubMed
    Score: 0.238
  5. Evaluating drug targets through human loss-of-function genetic variation. Nature. 2020 05; 581(7809):459-464.
    View in: PubMed
    Score: 0.227
  6. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443.
    View in: PubMed
    Score: 0.227
  7. Transcript expression-aware annotation improves rare variant interpretation. Nature. 2020 05; 581(7809):452-458.
    View in: PubMed
    Score: 0.227
  8. 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: 0.198
  9. 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: 0.197
  10. 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: 0.181
  11. The ExAC browser: displaying reference data information from over 60 000 exomes. Nucleic Acids Res. 2017 01 04; 45(D1):D840-D845.
    View in: PubMed
    Score: 0.178
  12. Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects. Nat Commun. 2016 10 31; 7:13293.
    View in: PubMed
    Score: 0.177
  13. Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. Nat Commun. 2016 09 13; 7:12869.
    View in: PubMed
    Score: 0.176
  14. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016 Jan 20; 8(322):322ra9.
    View in: PubMed
    Score: 0.168
  15. Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science. 2015 May 08; 348(6235):666-9.
    View in: PubMed
    Score: 0.160
  16. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 Sep; 46(9):944-50.
    View in: PubMed
    Score: 0.152
  17. 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: 0.136
  18. Author Correction: A structural variation reference for medical and population genetics. Nature. 2021 Feb; 590(7846):E55.
    View in: PubMed
    Score: 0.060
  19. A structural variation reference for medical and population genetics. Nature. 2020 05; 581(7809):444-451.
    View in: PubMed
    Score: 0.057
  20. Reply to 'Selective effects of heterozygous protein-truncating variants'. Nat Genet. 2019 01; 51(1):3-4.
    View in: PubMed
    Score: 0.051
  21. Phenome-wide association studies across large population cohorts support drug target validation. Nat Commun. 2018 10 16; 9(1):4285.
    View in: PubMed
    Score: 0.051
  22. 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: 0.049
  23. Corrigendum: High-throughput discovery of novel developmental phenotypes. Nature. 2017 11 16; 551(7680):398.
    View in: PubMed
    Score: 0.048
  24. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 2017 04 12; 544(7649):235-239.
    View in: PubMed
    Score: 0.046
  25. Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet. 2017 May; 49(5):806-810.
    View in: PubMed
    Score: 0.046
  26. High-throughput discovery of novel developmental phenotypes. Nature. 2016 09 22; 537(7621):508-514.
    View in: PubMed
    Score: 0.044
  27. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 08 18; 536(7616):285-91.
    View in: PubMed
    Score: 0.044
  28. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nat Genet. 2016 10; 48(10):1107-11.
    View in: PubMed
    Score: 0.044
  29. A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. Nat Commun. 2016 08 09; 7:12342.
    View in: PubMed
    Score: 0.044
  30. The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. Hum Mutat. 2015 May; 36(5):513-23.
    View in: PubMed
    Score: 0.040
  31. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2015 Jan; 125(1):456-7.
    View in: PubMed
    Score: 0.039
  32. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2014 Nov; 124(11):4693-708.
    View in: PubMed
    Score: 0.038
  33. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet. 2014 Jul; 10(7):e1004494.
    View in: PubMed
    Score: 0.038
  34. Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency. J Clin Endocrinol Metab. 2013 Sep; 98(9):E1534-9.
    View in: PubMed
    Score: 0.035
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.