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profileSteven A. McCarroll, Ph.D.

TitleDorothy and Milton Flier Associate Professor of Biomedical Science and Genetics
InstitutionHarvard Medical School
DepartmentGenetics
AddressHarvard Medical School
Dept. of Genetics-NRB260
77 Avenue Louis Pasteur
Boston MA 02115
Phone617/432-7794
Fax617/432-6306
vCardDownload vCard (login for email)

Collapse Mentoring 
Collapse completed student projects
Mapping allelic variation in regulation of neuropsychiatric disease: CACNB2
Part Time, 01/09/12 - 01/21/13

Collapse Research 
Collapse research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
R01MH106527     (MCCARROLL, STEVEN ANDREW)Apr 15, 2015 - Jan 31, 2018
NIH/NIMH
2/3-Genetic Analysis of the International Cohort Collection for Bipolar Disorder
Role: Principal Investigator

U01MH105641     (MCCARROLL, STEVEN ANDREW)Sep 19, 2014 - Jun 30, 2018
NIH/NIMH
2/3-Whole Genome Sequencing for Schizophrenia and Bipolar Disorder in the GPC
Role: Principal Investigator

R01HG006855     (MCCARROLL, STEVEN ANDREW)Aug 18, 2012 - May 31, 2020
NIH/NHGRI
Population-Based Approaches to Genome Structure and Structural Variation
Role: Principal Investigator

U01HG006510     (MCCARROLL, STEVEN ANDREW)Feb 1, 2012 - Dec 31, 2015
NIH/NHGRI
Accurate analysis of genome structural variation using large-scale sequence data
Role: Principal Investigator

RC2HG005546     (MCCARROLL, STEVEN ANDREW)Sep 30, 2009 - Aug 31, 2013
NIH/NHGRI
Development of a Software Pipeline for Sequence Data
Role: Principal Investigator

Collapse Bibliographic 
Collapse selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, McCarroll S, Alda M, Jacquemont S, Ordulu Z, Marshall CR, Carter MT, Shaffer LG, Sklar P, Girirajan S, Morton CC, Gusella JF, Turecki G, Stavropoulos DJ, Sullivan PF, Scherer SW, Talkowski ME, Ernst C. Implication of LRRC4C and DPP6 in neurodevelopmental disorders. Am J Med Genet A. 2016 Oct 19. PMID: 27759917.
    View in: PubMed
  2. Shekhar K, Lapan SW, Whitney IE, Tran NM, Macosko EZ, Kowalczyk M, Adiconis X, Levin JZ, Nemesh J, Goldman M, McCarroll SA, Cepko CL, Regev A, Sanes JR. Comprehensive Classification of Retinal Bipolar Neurons by Single-Cell Transcriptomics. Cell. 2016 Aug 25; 166(5):1308-1323.e30. PMID: 27565351.
    View in: PubMed
  3. McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, Luo Y, Sidore C, Kwong A, Timpson N, Koskinen S, Vrieze S, Scott LJ, Zhang H, Mahajan A, Veldink J, Peters U, Pato C, van Duijn CM, Gillies CE, Gandin I, Mezzavilla M, Gilly A, Cocca M, Traglia M, Angius A, Barrett JC, Boomsma D, Branham K, Breen G, Brummett CM, Busonero F, Campbell H, Chan A, Chen S, Chew E, Collins FS, Corbin LJ, Smith GD, Dedoussis G, Dorr M, Farmaki AE, Ferrucci L, Forer L, Fraser RM, Gabriel S, Levy S, Groop L, Harrison T, Hattersley A, Holmen OL, Hveem K, Kretzler M, Lee JC, McGue M, Meitinger T, Melzer D, Min JL, Mohlke KL, Vincent JB, Nauck M, Nickerson D, Palotie A, Pato M, Pirastu N, McInnis M, Richards JB, Sala C, Salomaa V, Schlessinger D, Schoenherr S, Slagboom PE, Small K, Spector T, Stambolian D, Tuke M, Tuomilehto J, Van den Berg LH, Van Rheenen W, Volker U, Wijmenga C, Toniolo D, Zeggini E, Gasparini P, Sampson MG, Wilson JF, Frayling T, de Bakker PI, Swertz MA, McCarroll S, Kooperberg C, Dekker A, Altshuler D, Willer C, Iacono W, Ripatti S, Soranzo N, Walter K, Swaroop A, Cucca F, Anderson CA, Myers RM, Boehnke M, McCarthy MI, Durbin R. A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet. 2016 Oct; 48(10):1279-83. PMID: 27548312.
    View in: PubMed
  4. Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 Aug 17; 536(7616):285-91. PMID: 27535533.
    View in: PubMed
  5. Kim MJ, Biag J, Fass DM, Lewis MC, Zhang Q, Fleishman M, Gangwar SP, Machius M, Fromer M, Purcell SM, McCarroll SA, Rudenko G, Premont RT, Scolnick EM, Haggarty SJ. Functional analysis of rare variants found in schizophrenia implicates a critical role for GIT1-PAK3 signaling in neuroplasticity. Mol Psychiatry. 2016 Jul 26. PMID: 27457813.
    View in: PubMed
  6. Poznik GD, Xue Y, Mendez FL, Willems TF, Massaia A, Wilson Sayres MA, Ayub Q, McCarthy SA, Narechania A, Kashin S, Chen Y, Banerjee R, Rodriguez-Flores JL, Cerezo M, Shao H, Gymrek M, Malhotra A, Louzada S, Desalle R, Ritchie GR, Cerveira E, Fitzgerald TW, Garrison E, Marcketta A, Mittelman D, Romanovitch M, Zhang C, Zheng-Bradley X, Abecasis GR, McCarroll SA, Flicek P, Underhill PA, Coin L, Zerbino DR, Yang F, Lee C, Clarke L, Auton A, Erlich Y, Handsaker RE, Bustamante CD, Tyler-Smith C. Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences. Nat Genet. 2016 Jun; 48(6):593-9. PMID: 27111036.
    View in: PubMed
  7. Padmanabhan JL, Nanda P, Tandon N, Mothi SS, Bolo N, McCarroll S, Clementz BA, Gershon ES, Pearlson GD, Sweeney JA, Tamminga CA, Keshavan MS. Polygenic risk for type 2 diabetes mellitus among individuals with psychosis and their relatives. J Psychiatr Res. 2016 Jun; 77:52-8. PMID: 26978185.
    View in: PubMed
  8. Boettger LM, Salem RM, Handsaker RE, Peloso GM, Kathiresan S, Hirschhorn JN, McCarroll SA. Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels. Nat Genet. 2016 Apr; 48(4):359-66. PMID: 26901066.
    View in: PubMed
  9. Sekar A, Bialas AR, de Rivera H, Davis A, Hammond TR, Kamitaki N, Tooley K, Presumey J, Baum M, Van Doren V, Genovese G, Rose SA, Handsaker RE, Daly MJ, Carroll MC, Stevens B, McCarroll SA. Schizophrenia risk from complex variation of complement component 4. Nature. 2016 Feb 11; 530(7589):177-83. PMID: 26814963.
    View in: PubMed
  10. Tansey KE, Rees E, Linden DE, Ripke S, Chambert KD, Moran JL, McCarroll SA, Holmans P, Kirov G, Walters J, Owen MJ, O'Donovan MC. Common alleles contribute to schizophrenia in CNV carriers. Mol Psychiatry. 2016 Aug; 21(8):1153. PMID: 26643540.
    View in: PubMed
  11. Song J, Bergen SE, Di Florio A, Karlsson R, Charney A, Ruderfer DM, Stahl EA, Chambert KD, Moran JL, Gordon-Smith K, Forty L, Green EK, Jones I, Jones L, Scolnick EM, Sklar P, Smoller JW, Lichtenstein P, Hultman C, Craddock N, Landén M, Smoller JW, Perlis RH, Lee PH, Castro VM, Hoffnagle AG, Sklar P, Stahl EA, Purcell SM, Ruderfer DM, Charney AW, Roussos P, Michele Pato CP, Medeiros H, Sobel J, Craddock N, Jones I, Forty L, Florio AD, Green E, Jones L, Gordon-Smith K, Landen M, Hultman C, Jureus A, Bergen S, McCarroll S, Moran J, Smoller JW, Chambert K, Belliveau RA. Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder. Mol Psychiatry. 2016 Sep; 21(9):1290-7. PMID: 26503763.
    View in: PubMed
  12. Tansey KE, Rees E, Linden DE, Ripke S, Chambert KD, Moran JL, McCarroll SA, Holmans P, Kirov G, Walters J, Owen MJ, O'Donovan MC. Common alleles contribute to schizophrenia in CNV carriers. Mol Psychiatry. 2016 Aug; 21(8):1085-9. PMID: 26390827.
    View in: PubMed
  13. Usher CL, McCarroll SA. Complex and multi-allelic copy number variation in human disease. Brief Funct Genomics. 2015 Sep; 14(5):329-38. PMID: 26163405; PMCID: PMC4576757.
  14. Usher CL, Handsaker RE, Esko T, Tuke MA, Weedon MN, Hastie AR, Cao H, Moon JE, Kashin S, Fuchsberger C, Metspalu A, Pato CN, Pato MT, McCarthy MI, Boehnke M, Altshuler DM, Frayling TM, Hirschhorn JN, McCarroll SA. Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity. Nat Genet. 2015 Aug; 47(8):921-5. PMID: 26098870.
    View in: PubMed
  15. Macosko EZ, Basu A, Satija R, Nemesh J, Shekhar K, Goldman M, Tirosh I, Bialas AR, Kamitaki N, Martersteck EM, Trombetta JJ, Weitz DA, Sanes JR, Shalek AK, Regev A, McCarroll SA. Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets. Cell. 2015 May 21; 161(5):1202-14. PMID: 26000488; PMCID: PMC4481139 [Available on 05/21/16].
  16. Genovese G, Jaiswal S, Ebert BL, McCarroll SA. Clonal hematopoiesis and blood-cancer risk. N Engl J Med. 2015 Mar 12; 372(11):1071-2. PMID: 25760361.
    View in: PubMed
  17. Regan JF, Kamitaki N, Legler T, Cooper S, Klitgord N, Karlin-Neumann G, Wong C, Hodges S, Koehler R, Tzonev S, McCarroll SA. A rapid molecular approach for chromosomal phasing. PLoS One. 2015; 10(3):e0118270. PMID: 25739099; PMCID: PMC4349636.
  18. Madison JM, Zhou F, Nigam A, Hussain A, Barker DD, Nehme R, van der Ven K, Hsu J, Wolf P, Fleishman M, O'Dushlaine C, Rose S, Chambert K, Lau FH, Ahfeldt T, Rueckert EH, Sheridan SD, Fass DM, Nemesh J, Mullen TE, Daheron L, McCarroll S, Sklar P, Perlis RH, Haggarty SJ. Characterization of bipolar disorder patient-specific induced pluripotent stem cells from a family reveals neurodevelopmental and mRNA expression abnormalities. Mol Psychiatry. 2015 Jun; 20(6):703-17. PMID: 25733313; PMCID: PMC4440839.
  19. Handsaker RE, Van Doren V, Berman JR, Genovese G, Kashin S, Boettger LM, McCarroll SA. Large multiallelic copy number variations in humans. Nat Genet. 2015 Mar; 47(3):296-303. PMID: 25621458; PMCID: PMC4405206.
  20. Green EK, Rees E, Walters JT, Smith KG, Forty L, Grozeva D, Moran JL, Sklar P, Ripke S, Chambert KD, Genovese G, McCarroll SA, Jones I, Jones L, Owen MJ, O'Donovan MC, Craddock N, Kirov G. Copy number variation in bipolar disorder. Mol Psychiatry. 2016 Jan; 21(1):89-93. PMID: 25560756.
    View in: PubMed
  21. Genovese G, Kähler AK, Handsaker RE, Lindberg J, Rose SA, Bakhoum SF, Chambert K, Mick E, Neale BM, Fromer M, Purcell SM, Svantesson O, Landén M, Höglund M, Lehmann S, Gabriel SB, Moran JL, Lander ES, Sullivan PF, Sklar P, Grönberg H, Hultman CM, McCarroll SA. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med. 2014 Dec 25; 371(26):2477-87. PMID: 25426838; PMCID: PMC4290021.
  22. Brand H, Pillalamarri V, Collins RL, Eggert S, O'Dushlaine C, Braaten EB, Stone MR, Chambert K, Doty ND, Hanscom C, Rosenfeld JA, Ditmars H, Blais J, Mills R, Lee C, Gusella JF, McCarroll S, Smoller JW, Talkowski ME, Doyle AE. Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. Am J Hum Genet. 2014 Oct 2; 95(4):454-61. PMID: 25279985; PMCID: PMC4185111.
  23. McCarroll SA, Feng G, Hyman SE. Genome-scale neurogenetics: methodology and meaning. Nat Neurosci. 2014 Jun; 17(6):756-63. PMID: 24866041.
    View in: PubMed
  24. Gray JM, Harmin DA, Boswell SA, Cloonan N, Mullen TE, Ling JJ, Miller N, Kuersten S, Ma YC, McCarroll SA, Grimmond SM, Springer M. SnapShot-Seq: a method for extracting genome-wide, in vivo mRNA dynamics from a single total RNA sample. PLoS One. 2014; 9(2):e89673. PMID: 24586954; PMCID: PMC3935918.
  25. Macosko EZ, McCarroll SA. Genetics. Our fallen genomes. Science. 2013 Nov 1; 342(6158):564-5. PMID: 24179207.
    View in: PubMed
  26. McCarroll SA, Hyman SE. Progress in the genetics of polygenic brain disorders: significant new challenges for neurobiology. Neuron. 2013 Oct 30; 80(3):578-87. PMID: 24183011; PMCID: PMC4066986.
  27. Koren A, McCarroll SA. Random replication of the inactive X chromosome. Genome Res. 2014 Jan; 24(1):64-9. PMID: 24065775; PMCID: PMC3875862.
  28. Szatkiewicz JP, Neale BM, O'Dushlaine C, Fromer M, Goldstein JI, Moran JL, Chambert K, Kähler A, Magnusson PK, Hultman CM, Sklar P, Purcell S, McCarroll SA, Sullivan PF. Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample. Mol Psychiatry. 2013 Nov; 18(11):1178-84. PMID: 23938935; PMCID: PMC3966073.
  29. Genovese G, Handsaker RE, Li H, Kenny EE, McCarroll SA. Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes. Am J Hum Genet. 2013 Sep 5; 93(3):411-21. PMID: 23932108; PMCID: PMC3971454.
  30. Patil CK, McCarroll SA. Of rats and men. Cell. 2013 Aug 1; 154(3):481-3. PMID: 23911315.
    View in: PubMed
  31. Pato MT, Sobell JL, Medeiros H, Abbott C, Sklar BM, Buckley PF, Bromet EJ, Escamilla MA, Fanous AH, Lehrer DS, Macciardi F, Malaspina D, McCarroll SA, Marder SR, Moran J, Morley CP, Nicolini H, Perkins DO, Purcell SM, Rapaport MH, Sklar P, Smoller JW, Knowles JA, Pato CN. The genomic psychiatry cohort: partners in discovery. Am J Med Genet B Neuropsychiatr Genet. 2013 Jun; 162B(4):306-12. PMID: 23650244; PMCID: PMC3729260.
  32. Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, Jin X, Jian M, Liu G, Greer D, Bhandari A, Wu W, Corominas R, Peoples A, Koren A, Gore A, Kang S, Lin GN, Estabillo J, Gadomski T, Singh B, Zhang K, Akshoomoff N, Corsello C, McCarroll S, Iakoucheva LM, Li Y, Wang J, Sebat J. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell. 2012 Dec 21; 151(7):1431-42. PMID: 23260136; PMCID: PMC3712641.
  33. Koren A, Polak P, Nemesh J, Michaelson JJ, Sebat J, Sunyaev SR, McCarroll SA. Differential relationship of DNA replication timing to different forms of human mutation and variation. Am J Hum Genet. 2012 Dec 7; 91(6):1033-40. PMID: 23176822; PMCID: PMC3516607.
  34. Fromer M, Moran JL, Chambert K, Banks E, Bergen SE, Ruderfer DM, Handsaker RE, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G, Sullivan PF, Hultman CM, Sklar P, Purcell SM. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet. 2012 Oct 5; 91(4):597-607. PMID: 23040492; PMCID: PMC3484655.
  35. Goldstein JI, Crenshaw A, Carey J, Grant GB, Maguire J, Fromer M, O'Dushlaine C, Moran JL, Chambert K, Stevens C, Sklar P, Hultman CM, Purcell S, McCarroll SA, Sullivan PF, Daly MJ, Neale BM. zCall: a rare variant caller for array-based genotyping: genetics and population analysis. Bioinformatics. 2012 Oct 1; 28(19):2543-5. PMID: 22843986; PMCID: PMC3463112.
  36. Boettger LM, Handsaker RE, Zody MC, McCarroll SA. Structural haplotypes and recent evolution of the human 17q21.31 region. Nat Genet. 2012 Jul 01; 44(8):881-5. PMID: 22751096; PMCID: PMC4020351.
  37. Bergen SE, O'Dushlaine CT, Ripke S, Lee PH, Ruderfer DM, Akterin S, Moran JL, Chambert KD, Handsaker RE, Backlund L, Ösby U, McCarroll S, Landen M, Scolnick EM, Magnusson PK, Lichtenstein P, Hultman CM, Purcell SM, Sklar P, Sullivan PF. Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. Mol Psychiatry. 2012 Sep; 17(9):880-6. PMID: 22688191; PMCID: PMC3724337.
  38. Macosko EZ, McCarroll SA. Exploring the variation within. Nat Genet. 2012 Jun; 44(6):614-6. PMID: 22641203.
    View in: PubMed
  39. Handsaker RE, Korn JM, Nemesh J, McCarroll SA. Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat Genet. 2011 Mar; 43(3):269-76. PMID: 21317889.
    View in: PubMed
  40. McCarroll SA. Copy number variation and human genome maps. Nat Genet. 2010 May; 42(5):365-6. PMID: 20428091.
    View in: PubMed
  41. Chiang DY, McCarroll SA. Mapping duplicated sequences. Nat Biotechnol. 2009 Nov; 27(11):1001-2. PMID: 19898454.
    View in: PubMed
  42. McCarroll SA. Extending genome-wide association studies to copy-number variation. Hum Mol Genet. 2008 Oct 15; 17(R2):R135-42. PMID: 18852202.
    View in: PubMed
  43. McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PI, Maller JB, Kirby A, Elliott AL, Parkin M, Hubbell E, Webster T, Mei R, Veitch J, Collins PJ, Handsaker R, Lincoln S, Nizzari M, Blume J, Jones KW, Rava R, Daly MJ, Gabriel SB, Altshuler D. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet. 2008 Oct; 40(10):1166-74. PMID: 18776908.
    View in: PubMed
  44. Shen F, Huang J, Fitch KR, Truong VB, Kirby A, Chen W, Zhang J, Liu G, McCarroll SA, Jones KW, Shapero MH. Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes. BMC Genet. 2008; 9:27. PMID: 18373861; PMCID: PMC2374799.
  45. McCarroll SA. Copy-number analysis goes more than skin deep. Nat Genet. 2008 Jan; 40(1):5-6. PMID: 18163125.
    View in: PubMed
  46. McCarroll SA, Altshuler DM. Copy-number variation and association studies of human disease. Nat Genet. 2007 Jul; 39(7 Suppl):S37-42. PMID: 17597780.
    View in: PubMed
  47. Myers SR, McCarroll SA. New insights into the biological basis of genomic disorders. Nat Genet. 2006 Dec; 38(12):1363-4. PMID: 17133221.
    View in: PubMed
  48. Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, Altshuler DM, Aburatani H, Jones KW, Tyler-Smith C, Hurles ME, Carter NP, Scherer SW, Lee C. Copy number variation: new insights in genome diversity. Genome Res. 2006 Aug; 16(8):949-61. PMID: 16809666.
    View in: PubMed
  49. Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, Cheng Z, Schwartz S, Albertson DG, Pinkel D, Altshuler DM, Eichler EE. Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet. 2006 Aug; 79(2):275-90. PMID: 16826518; PMCID: PMC1559496.
  50. McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, Dallaire S, Gabriel SB, Lee C, Daly MJ, Altshuler DM. Common deletion polymorphisms in the human genome. Nat Genet. 2006 Jan; 38(1):86-92. PMID: 16468122.
    View in: PubMed
  51. McCarroll SA, Li H, Bargmann CI. Identification of transcriptional regulatory elements in chemosensory receptor genes by probabilistic segmentation. Curr Biol. 2005 Feb 22; 15(4):347-52. PMID: 15723796.
    View in: PubMed
  52. McCarroll SA, Murphy CT, Zou S, Pletcher SD, Chin CS, Jan YN, Kenyon C, Bargmann CI, Li H. Comparing genomic expression patterns across species identifies shared transcriptional profile in aging. Nat Genet. 2004 Feb; 36(2):197-204. PMID: 14730301.
    View in: PubMed
  53. Jeng CJ, McCarroll SA, Martin TF, Floor E, Adams J, Krantz D, Butz S, Edwards R, Schweitzer ES. Thy-1 is a component common to multiple populations of synaptic vesicles. J Cell Biol. 1998 Feb 9; 140(3):685-98. PMID: 9456327; PMCID: PMC2140167.
  54. Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO. Mapping copy number variation by population-scale genome sequencing. Nature. 2011 Feb 3; 470(7332):59-65. PMID: 21293372; PMCID: PMC3077050.
  55. McCarroll SA, Bradner JE, Turpeinen H, Volin L, Martin PJ, Chilewski SD, Antin JH, Lee SJ, Ruutu T, Storer B, Warren EH, Zhang B, Zhao LP, Ginsburg D, Soiffer RJ, Partanen J, Hansen JA, Ritz J, Palotie A, Altshuler D. Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease. Nat Genet. 2009 Dec; 41(12):1341-4. PMID: 19935662; PMCID: PMC2804745.
  56. Raychaudhuri S, Korn JM, McCarroll SA, Altshuler D, Sklar P, Purcell S, Daly MJ. Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. PLoS Genet. 2010 Sep 09; 6(9):e1001097. PMID: 20838587; PMCID: PMC2936523.
  57. Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, Tüzün E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, Smith JD, Korn JM, McCarroll SA, Altshuler DA, Peiffer DA, Dorschner M, Stamatoyannopoulos J, Schwartz D, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul R, Smith DR, Eichler EE. Mapping and sequencing of structural variation from eight human genomes. Nature. 2008 May 1; 453(7191):56-64. PMID: 18451855; PMCID: PMC2424287.
  58. Price AL, Helgason A, Thorleifsson G, McCarroll SA, Kong A, Stefansson K. Single-tissue and cross-tissue heritability of gene expression via identity-by-descent in related or unrelated individuals. PLoS Genet. 2011 Feb; 7(2):e1001317. PMID: 21383966; PMCID: PMC3044684.
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