Harvard Catalyst Profiles

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

David Matthew Altshuler, M.D., Ph.D.

Co-Author

This page shows the publications co-authored by David Altshuler and Jason Flannick.
Connection Strength

3.267
  1. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nat Genet. 2014 Apr; 46(4):357-63.
    View in: PubMed
    Score: 0.568
  2. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat Genet. 2013 Nov; 45(11):1380-5.
    View in: PubMed
    Score: 0.553
  3. Efficiency and power as a function of sequence coverage, SNP array density, and imputation. PLoS Comput Biol. 2012; 8(7):e1002604.
    View in: PubMed
    Score: 0.508
  4. Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. Nature. 2019 06; 570(7759):71-76.
    View in: PubMed
    Score: 0.204
  5. Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci Data. 2018 01 23; 5:180002.
    View in: PubMed
    Score: 0.186
  6. Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci Data. 2017 12 19; 4:170179.
    View in: PubMed
    Score: 0.185
  7. Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. Proc Natl Acad Sci U S A. 2014 Sep 09; 111(36):13127-32.
    View in: PubMed
    Score: 0.147
  8. Evaluating empirical bounds on complex disease genetic architecture. Nat Genet. 2013 Dec; 45(12):1418-27.
    View in: PubMed
    Score: 0.139
  9. Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes. Nat Commun. 2018 06 13; 9(1):2252.
    View in: PubMed
    Score: 0.048
  10. A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes. Diabetes. 2017 11; 66(11):2903-2914.
    View in: PubMed
    Score: 0.045
  11. A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. Diabetes. 2017 07; 66(7):2019-2032.
    View in: PubMed
    Score: 0.044
  12. Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population. Diabetes. 2017 02; 66(2):335-346.
    View in: PubMed
    Score: 0.043
  13. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 08 18; 536(7616):285-91.
    View in: PubMed
    Score: 0.042
  14. The genetic architecture of type 2 diabetes. Nature. 2016 08 04; 536(7614):41-47.
    View in: PubMed
    Score: 0.042
  15. A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans. BMC Endocr Disord. 2016 Jan 28; 16:7.
    View in: PubMed
    Score: 0.041
  16. Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nat Genet. 2015 Dec; 47(12):1415-25.
    View in: PubMed
    Score: 0.040
  17. The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease. PLoS Genet. 2015 Apr; 11(4):e1005165.
    View in: PubMed
    Score: 0.038
  18. Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. PLoS Genet. 2015 Jan; 11(1):e1004876.
    View in: PubMed
    Score: 0.038
  19. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci Transl Med. 2015 Jan 14; 7(270):270ra6.
    View in: PubMed
    Score: 0.038
  20. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014 Dec 25; 371(26):2488-98.
    View in: PubMed
    Score: 0.037
  21. A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. Am J Hum Genet. 2014 Nov 06; 95(5):509-20.
    View in: PubMed
    Score: 0.037
  22. 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: 0.037
  23. Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. JAMA. 2014 Jun 11; 311(22):2305-14.
    View in: PubMed
    Score: 0.036
  24. Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland. Am J Hum Genet. 2014 May 01; 94(5):710-20.
    View in: PubMed
    Score: 0.036
  25. Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am J Hum Genet. 2014 Feb 06; 94(2):233-45.
    View in: PubMed
    Score: 0.035
  26. Increased burden of cardiovascular disease in carriers of APOL1 genetic variants. Circ Res. 2014 Feb 28; 114(5):845-50.
    View in: PubMed
    Score: 0.035
  27. 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: 0.033
  28. Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. Am J Hum Genet. 2012 Sep 07; 91(3):513-9.
    View in: PubMed
    Score: 0.032
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.