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Benjamin Michael Neale, Ph.D.

Co-Author

This page shows the publications co-authored by Benjamin Neale and Mark Daly.
Connection Strength

10.567
  1. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 Apr 04; 485(7397):242-5.
    View in: PubMed
    Score: 0.511
  2. Genome-wide association study identifies five new schizophrenia loci. Nat Genet. 2011 Sep 18; 43(10):969-76.
    View in: PubMed
    Score: 0.493
  3. Testing for an unusual distribution of rare variants. PLoS Genet. 2011 Mar; 7(3):e1001322.
    View in: PubMed
    Score: 0.474
  4. Publisher Correction: Clinical use of current polygenic risk scores may exacerbate health disparities. Nat Genet. 2021 May; 53(5):763.
    View in: PubMed
    Score: 0.240
  5. Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power. Nat Genet. 2021 02; 53(2):195-204.
    View in: PubMed
    Score: 0.235
  6. Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nat Neurosci. 2020 Feb; 23(2):295.
    View in: PubMed
    Score: 0.220
  7. Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations. Nat Neurosci. 2020 02; 23(2):185-193.
    View in: PubMed
    Score: 0.219
  8. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nat Neurosci. 2019 12; 22(12):1966-1974.
    View in: PubMed
    Score: 0.217
  9. Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants. Nat Neurosci. 2019 12; 22(12):1961-1965.
    View in: PubMed
    Score: 0.217
  10. Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS Genet. 2019 May; 15(5):e1008190.
    View in: PubMed
    Score: 0.210
  11. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat Genet. 2019 04; 51(4):584-591.
    View in: PubMed
    Score: 0.207
  12. Predicting Polygenic Risk of Psychiatric Disorders. Biol Psychiatry. 2019 07 15; 86(2):97-109.
    View in: PubMed
    Score: 0.204
  13. Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. Nat Genet. 2019 01; 51(1):63-75.
    View in: PubMed
    Score: 0.203
  14. 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: 0.196
  15. 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
  16. 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: 0.196
  17. Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland. Am J Hum Genet. 2018 05 03; 102(5):760-775.
    View in: PubMed
    Score: 0.195
  18. 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: 0.179
  19. Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. Nat Neurosci. 2016 12; 19(12):1563-1565.
    View in: PubMed
    Score: 0.175
  20. Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. Nat Commun. 2016 09 13; 7:12869.
    View in: PubMed
    Score: 0.174
  21. Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population. Nat Genet. 2016 05; 48(5):552-5.
    View in: PubMed
    Score: 0.168
  22. An atlas of genetic correlations across human diseases and traits. Nat Genet. 2015 Nov; 47(11):1236-41.
    View in: PubMed
    Score: 0.163
  23. Phenotypic extremes in rare variant study designs. Eur J Hum Genet. 2016 06; 24(6):924-30.
    View in: PubMed
    Score: 0.162
  24. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat Genet. 2015 Mar; 47(3):291-5.
    View in: PubMed
    Score: 0.156
  25. Autism spectrum disorder severity reflects the average contribution of de novo and familial influences. Proc Natl Acad Sci U S A. 2014 Oct 21; 111(42):15161-5.
    View in: PubMed
    Score: 0.152
  26. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 Sep; 46(9):944-50.
    View in: PubMed
    Score: 0.150
  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: 0.135
  28. zCall: a rare variant caller for array-based genotyping: genetics and population analysis. Bioinformatics. 2012 Oct 01; 28(19):2543-5.
    View in: PubMed
    Score: 0.131
  29. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet. 2011 Oct 09; 43(11):1066-73.
    View in: PubMed
    Score: 0.124
  30. Case-control genome-wide association study of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry. 2010 Sep; 49(9):906-20.
    View in: PubMed
    Score: 0.114
  31. Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry. 2010 Sep; 49(9):884-97.
    View in: PubMed
    Score: 0.114
  32. Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent. Nat Genet. 2010 Jul; 42(7):553-5; author reply 555-6.
    View in: PubMed
    Score: 0.113
  33. Meta-analysis of genome-wide association studies. Cold Spring Harb Protoc. 2010 Jun; 2010(6):pdb.top81.
    View in: PubMed
    Score: 0.113
  34. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A. 2010 Apr 20; 107(16):7395-400.
    View in: PubMed
    Score: 0.111
  35. Genome-wide association scan of attention deficit hyperactivity disorder. . 2008 Dec 05; 147B(8):1337-44.
    View in: PubMed
    Score: 0.102
  36. Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants. Am J Med Genet B Neuropsychiatr Genet. 2013 Jul; 162B(5):419-430.
    View in: PubMed
    Score: 0.069
  37. Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 Sep; 597(7874):E3-E4.
    View in: PubMed
    Score: 0.061
  38. Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection. Nat Med. 2021 06; 27(6):1012-1024.
    View in: PubMed
    Score: 0.060
  39. Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations. Am J Hum Genet. 2021 04 01; 108(4):656-668.
    View in: PubMed
    Score: 0.060
  40. Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 Feb; 590(7846):E53.
    View in: PubMed
    Score: 0.059
  41. Author Correction: A structural variation reference for medical and population genetics. Nature. 2021 Feb; 590(7846):E55.
    View in: PubMed
    Score: 0.059
  42. Investigating Shared Genetic Basis Across Tourette Syndrome and Comorbid Neurodevelopmental Disorders Along the Impulsivity-Compulsivity Spectrum. Biol Psychiatry. 2021 09 01; 90(5):317-327.
    View in: PubMed
    Score: 0.059
  43. Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer. medRxiv. 2020 Nov 16.
    View in: PubMed
    Score: 0.058
  44. Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells. Nature. 2020 10; 586(7831):769-775.
    View in: PubMed
    Score: 0.058
  45. Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations. Am J Hum Genet. 2020 10 01; 107(4):788-789.
    View in: PubMed
    Score: 0.058
  46. A data-driven medication score predicts 10-year mortality among aging adults. Sci Rep. 2020 09 25; 10(1):15760.
    View in: PubMed
    Score: 0.058
  47. Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry. 2020 Aug; 25(8):1901-1903.
    View in: PubMed
    Score: 0.057
  48. A structural variation reference for medical and population genetics. Nature. 2020 05; 581(7809):444-451.
    View in: PubMed
    Score: 0.056
  49. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443.
    View in: PubMed
    Score: 0.056
  50. Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts. Nat Genet. 2020 06; 52(6):634-639.
    View in: PubMed
    Score: 0.056
  51. Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers. Nat Med. 2020 04; 26(4):549-557.
    View in: PubMed
    Score: 0.056
  52. Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. Nat Commun. 2020 Apr 01; 11(1):1715.
    View in: PubMed
    Score: 0.056
  53. RICOPILI: Rapid Imputation for COnsortias PIpeLIne. Bioinformatics. 2020 02 01; 36(3):930-933.
    View in: PubMed
    Score: 0.055
  54. Comparative genetic architectures of schizophrenia in East Asian and European populations. Nat Genet. 2019 12; 51(12):1670-1678.
    View in: PubMed
    Score: 0.054
  55. International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci. Nat Commun. 2019 10 08; 10(1):4558.
    View in: PubMed
    Score: 0.054
  56. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nat Genet. 2019 05; 51(5):793-803.
    View in: PubMed
    Score: 0.052
  57. Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion. Hum Genomics. 2019 04 16; 13(1):19.
    View in: PubMed
    Score: 0.052
  58. Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies. Elife. 2019 03 21; 8.
    View in: PubMed
    Score: 0.052
  59. Identification of common genetic risk variants for autism spectrum disorder. Nat Genet. 2019 03; 51(3):431-444.
    View in: PubMed
    Score: 0.052
  60. A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment. Nat Neurosci. 2019 03; 22(3):353-361.
    View in: PubMed
    Score: 0.051
  61. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science. 2018 12 14; 362(6420).
    View in: PubMed
    Score: 0.051
  62. Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families. Neuron. 2018 Sep 05; 99(5):1098.
    View in: PubMed
    Score: 0.050
  63. Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. Nat Commun. 2018 08 23; 9(1):3493.
    View in: PubMed
    Score: 0.050
  64. Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry. 2020 08; 25(8):1859-1875.
    View in: PubMed
    Score: 0.050
  65. Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. Nat Commun. 2018 07 04; 9(1):2606.
    View in: PubMed
    Score: 0.049
  66. Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium. Nat Neurosci. 2018 Jul; 21(7):1017.
    View in: PubMed
    Score: 0.049
  67. Analysis of shared heritability in common disorders of the brain. Science. 2018 06 22; 360(6395).
    View in: PubMed
    Score: 0.049
  68. Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study. Lancet Psychiatry. 2018 07; 5(7):573-580.
    View in: PubMed
    Score: 0.049
  69. Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families. Neuron. 2018 05 16; 98(4):743-753.e4.
    View in: PubMed
    Score: 0.049
  70. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nat Genet. 2018 04 26; 50(5):727-736.
    View in: PubMed
    Score: 0.049
  71. 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: 0.048
  72. 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: 0.047
  73. Whole genome sequencing in psychiatric disorders: the WGSPD consortium. Nat Neurosci. 2017 12; 20(12):1661-1668.
    View in: PubMed
    Score: 0.047
  74. Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations. Am J Hum Genet. 2017 Apr 06; 100(4):635-649.
    View in: PubMed
    Score: 0.045
  75. 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: 0.045
  76. A framework for the detection of de novo mutations in family-based sequencing data. Eur J Hum Genet. 2017 02; 25(2):227-233.
    View in: PubMed
    Score: 0.044
  77. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nat Genet. 2017 01; 49(1):27-35.
    View in: PubMed
    Score: 0.044
  78. Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. Nat Genet. 2016 09 28; 48(10):1296.
    View in: PubMed
    Score: 0.044
  79. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 08 18; 536(7616):285-91.
    View in: PubMed
    Score: 0.043
  80. 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
  81. Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study. Circ Cardiovasc Genet. 2016 Aug; 9(4):368-74.
    View in: PubMed
    Score: 0.043
  82. The genetic architecture of type 2 diabetes. Nature. 2016 08 04; 536(7614):41-47.
    View in: PubMed
    Score: 0.043
  83. Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. Nat Genet. 2016 08; 48(8):856-66.
    View in: PubMed
    Score: 0.043
  84. A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies. Am J Hum Genet. 2016 05 05; 98(5):857-868.
    View in: PubMed
    Score: 0.042
  85. Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. Am J Hum Genet. 2015 Oct 01; 97(4):576-92.
    View in: PubMed
    Score: 0.041
  86. New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis. Int J Epidemiol. 2015 Oct; 44(5):1706-21.
    View in: PubMed
    Score: 0.041
  87. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat Genet. 2015 Nov; 47(11):1228-35.
    View in: PubMed
    Score: 0.041
  88. Exome sequencing in suspected monogenic dyslipidemias. Circ Cardiovasc Genet. 2015 Apr; 8(2):343-50.
    View in: PubMed
    Score: 0.039
  89. No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. PLoS Genet. 2015 Jan; 11(1):e1004852.
    View in: PubMed
    Score: 0.039
  90. Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Am J Hum Genet. 2014 Nov 06; 95(5):535-52.
    View in: PubMed
    Score: 0.038
  91. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014 Nov 13; 515(7526):209-15.
    View in: PubMed
    Score: 0.038
  92. Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. Nat Commun. 2014 Sep 04; 5:4757.
    View in: PubMed
    Score: 0.038
  93. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Mol Autism. 2014; 5:31.
    View in: PubMed
    Score: 0.037
  94. An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. Am J Hum Genet. 2014 Mar 06; 94(3):437-52.
    View in: PubMed
    Score: 0.037
  95. Searching for missing heritability: designing rare variant association studies. Proc Natl Acad Sci U S A. 2014 Jan 28; 111(4):E455-64.
    View in: PubMed
    Score: 0.036
  96. Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet. 2013 Nov; 45(11):1345-52.
    View in: PubMed
    Score: 0.035
  97. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet. 2013 Sep; 45(9):984-94.
    View in: PubMed
    Score: 0.035
  98. Genome-wide meta-analysis identifies new susceptibility loci for migraine. Nat Genet. 2013 Aug; 45(8):912-917.
    View in: PubMed
    Score: 0.035
  99. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet. 2013 Apr; 9(4):e1003443.
    View in: PubMed
    Score: 0.034
  100. Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder. Mol Autism. 2013 Mar 20; 4(1):5.
    View in: PubMed
    Score: 0.034
  101. Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nat Genet. 2013 Feb; 45(2):197-201.
    View in: PubMed
    Score: 0.034
  102. Extremely low-coverage sequencing and imputation increases power for genome-wide association studies. Nat Genet. 2012 May 20; 44(6):631-5.
    View in: PubMed
    Score: 0.032
  103. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012 Apr 27; 149(3):525-37.
    View in: PubMed
    Score: 0.032
  104. A mega-analysis of genome-wide association studies for major depressive disorder. Mol Psychiatry. 2013 Apr; 18(4):497-511.
    View in: PubMed
    Score: 0.032
  105. Common genetic variants differentially influence the transition from clinically defined states of fasting glucose metabolism. Diabetologia. 2012 Feb; 55(2):331-9.
    View in: PubMed
    Score: 0.031
  106. Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet. 2011 Aug; 7(8):e1002254.
    View in: PubMed
    Score: 0.031
  107. Genome-wide association identifies multiple ulcerative colitis susceptibility loci. Nat Genet. 2010 Apr; 42(4):332-7.
    View in: PubMed
    Score: 0.028
  108. Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach. Eur J Hum Genet. 2010 Apr; 18(4):496-501.
    View in: PubMed
    Score: 0.027
  109. Common body mass index-associated variants confer risk of extreme obesity. Hum Mol Genet. 2009 Sep 15; 18(18):3502-7.
    View in: PubMed
    Score: 0.026
  110. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. PLoS Genet. 2009 Feb; 5(2):e1000365.
    View in: PubMed
    Score: 0.026
  111. Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. . 2008 Dec 05; 147B(8):1345-54.
    View in: PubMed
    Score: 0.025
  112. Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder. . 2008 Dec 05; 147B(8):1355-8.
    View in: PubMed
    Score: 0.025
  113. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet. 2008 Oct; 40(10):1216-23.
    View in: PubMed
    Score: 0.025
  114. Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet. 2009 Jan; 17(1):100-4.
    View in: PubMed
    Score: 0.025
  115. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet. 2007 Dec; 39(12):1477-82.
    View in: PubMed
    Score: 0.024
  116. Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet. 2007 Oct; 39(10):1200-1.
    View in: PubMed
    Score: 0.023
  117. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007 Sep; 81(3):559-75.
    View in: PubMed
    Score: 0.023
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.