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Elaine Lim PhD

TitleAssistant Professor
InstitutionUMass Chan Medical School
DepartmentGenomics and Computational Biology
AddressUniversity of Massachusetts Medical School
55 Lake Ave North
Worcester MA 01605
Email
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    Other Positions
    InstitutionT.H. Chan School of Medicine
    DepartmentGenomics and Computational Biology

    InstitutionT.H. Chan School of Medicine
    DepartmentMolecular, Cell and Cancer Biology

    InstitutionT.H. Chan School of Medicine
    DepartmentNeuroNexus Institute

    InstitutionMorningside Graduate School of Biomedical Sciences
    DepartmentBiochemistry and Molecular Biotechnology

    InstitutionMorningside Graduate School of Biomedical Sciences
    DepartmentBiophysical Chemical and Computational Biology

    InstitutionMorningside Graduate School of Biomedical Sciences
    DepartmentCancer Biology

    InstitutionMorningside Graduate School of Biomedical Sciences
    DepartmentImmunology and Microbiology Program

    InstitutionMorningside Graduate School of Biomedical Sciences
    DepartmentInterdisciplinary Graduate Program

    InstitutionMorningside Graduate School of Biomedical Sciences
    DepartmentMD/PhD Program

    InstitutionMorningside Graduate School of Biomedical Sciences
    DepartmentMillennium MD/PhD Program

    InstitutionMorningside Graduate School of Biomedical Sciences
    DepartmentNeuroscience

    InstitutionMorningside Graduate School of Biomedical Sciences
    DepartmentSystems Computational and Quantitative Biology

    InstitutionMorningside Graduate School of Biomedical Sciences
    DepartmentTranslational Science


    Collapse Biography 
    Collapse education and training
    National University of Singapore, Singapore, , SingaporeBSComputer Sciences
    National University of Singapore, Singapore, , SingaporeMSBioinformatics
    Harvard University, BostonPhDGenetics and Genomics
    Harvard University, Cambridge, MA, United StatesPHDGenetics & Genomics

    Collapse Overview 
    Collapse Rotation Projects

    Rotation projects are designed to aim to train students in both computational genetics/genomics and experimental technologies such as brain organoids. Please contact me via email to discuss.


    Collapse Post Docs

    Post-doc positions are available, please contact me via email.



    Collapse Featured Content 
    Collapse Twitter

    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.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Funes S, Jung J, Gadd DH, Mosqueda M, Zhong J, Unger M, Stallworth K, Cameron D, Rotunno MS, Dawes P, Fowler-Magaw M, Keagle PJ, McDonough JA, Boopathy S, Sena-Esteves M, Nickerson JA, Lutz C, Skarnes WC, Lim ET, Schafer DP, Massi F, Landers JE, Bosco DA. Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia. Nat Commun. 2024 Mar 20; 15(1):2497. PMID: 38509062.
      Citations:    
    2. Sarker S, Eshaque TB, Soorajkumar A, Nassir N, Zehra B, Kanta SI, Rahaman MA, Islam A, Akter S, Ali MK, Mim RA, Uddin KMF, Chowdhury MSJ, Shams N, Baqui MA, Lim ET, Akter H, Woodbury-Smith M, Uddin M. Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population. Sci Rep. 2023 12 06; 13(1):21547. PMID: 38057384.
      Citations: 1     Fields:    Translation:Humans
    3. Smullen M, Olson MN, Reichert JM, Dawes P, Murray LF, Baer CE, Wang Q, Readhead B, Church GM, Lim ET, Chan Y. Reliable multiplex generation of pooled induced pluripotent stem cells. Cell Rep Methods. 2023 09 25; 3(9):100570. PMID: 37751688.
      Citations:    
    4. Lim ET, Chan Y. Editorial for the Neurogenetics and Neurogenomics special issue. Hum Genet. 2023 Aug; 142(8):997-999. PMID: 37474752.
      Citations:    Fields:    
    5. Smullen M, Olson MN, Murray LF, Suresh M, Yan G, Dawes P, Barton NJ, Mason JN, Zhang Y, Fernandez-Fontaine AA, Church GM, Mastroeni D, Wang Q, Lim ET, Chan Y, Readhead B. Modeling of mitochondrial genetic polymorphisms reveals induction of heteroplasmy by pleiotropic disease locus 10398A>G. Sci Rep. 2023 06 27; 13(1):10405. PMID: 37369829.
      Citations: 1     Fields:    Translation:Cells
    6. Funes S, Gadd DH, Mosqueda M, Zhong J, Jung J, Unger M, Cameron D, Dawes P, Keagle PJ, McDonough JA, Boopathy S, Sena-Esteves M, Lutz C, Skarnes WC, Lim ET, Schafer DP, Massi F, Landers JE, Bosco DA. Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia. bioRxiv. 2023 Jun 01. PMID: 37398081.
      Citations:    
    7. Kosaji N, Zehra B, Nassir N, Tambi R, Orszulak AR, Lim ET, Berdiev BK, Woodbury-Smith M, Uddin M. Lack of ethnic diversity in single-cell transcriptomics hinders cell type detection and precision medicine inclusivity. Med. 2023 04 14; 4(4):217-219. PMID: 37060896.
      Citations:    
    8. Dawes P, Murray LF, Olson MN, Barton NJ, Smullen M, Suresh M, Yan G, Zhang Y, Fernandez-Fontaine A, English J, Uddin M, Pak C, Church GM, Chan Y, Lim ET. oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids. Hum Genet. 2023 Aug; 142(8):1281-1291. PMID: 36877372.
      Citations: 1     Fields:    Translation:Humans
    9. Murray L, Olson MN, Barton N, Dawes P, Chan Y, Lim ET. FACS-Based Sequencing Approach to Evaluate Cell Type to Genotype Associations Using Cerebral Organoids. Methods Mol Biol. 2023; 2683:193-199. PMID: 37300776.
      Citations:    Fields:    
    10. Lim ET, Chan Y, Dawes P, Guo X, Erdin S, Tai DJC, Liu S, Reichert JM, Burns MJ, Chan YK, Chiang JJ, Meyer K, Zhang X, Walsh CA, Yankner BA, Raychaudhuri S, Hirschhorn JN, Gusella JF, Talkowski ME, Church GM. Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. Nat Commun. 2022 06 10; 13(1):3243. PMID: 35688811.
      Citations: 8     Fields:    Translation:HumansCells
    11. Akter H, Hossain MS, Dity NJ, Rahaman MA, Furkan Uddin KM, Nassir N, Begum G, Hameid RA, Islam MS, Tusty TA, Basiruzzaman M, Sarkar S, Islam M, Jahan S, Lim ET, Woodbury-Smith M, Stavropoulos DJ, O'Rielly DD, Berdeiv BK, Nurun Nabi AHM, Ahsan MN, Scherer SW, Uddin M. Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh. NPJ Genom Med. 2021 Feb 16; 6(1):14. PMID: 33594065.
      Citations:    
    12. Chan YK, Wang SK, Chu CJ, Copland DA, Letizia AJ, Costa Verdera H, Chiang JJ, Sethi M, Wang MK, Neidermyer WJ, Chan Y, Lim ET, Graveline AR, Sanchez M, Boyd RF, Vihtelic TS, Inciong RGCO, Slain JM, Alphonse PJ, Xue Y, Robinson-McCarthy LR, Tam JM, Jabbar MH, Sahu B, Adeniran JF, Muhuri M, Tai PWL, Xie J, Krause TB, Vernet A, Pezone M, Xiao R, Liu T, Wang W, Kaplan HJ, Gao G, Dick AD, Mingozzi F, McCall MA, Cepko CL, Church GM. Engineering adeno-associated viral vectors to evade innate immune and inflammatory responses. Sci Transl Med. 2021 02 10; 13(580). PMID: 33568518.
      Citations: 67     Fields:    Translation:AnimalsCells
    13. Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM, Church GM, Scherer SW, Buxbaum JD, Walsh CA. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2020 Sep; 23(9):1176. PMID: 32665711.
      Citations:    Fields:    
    14. Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, Overman LM, Soucy A, Goetze S, Freitag CM, Daly MJ, Walsh CA, Buxbaum JD, Yu TW. Recessive gene disruptions in autism spectrum disorder. Nat Genet. 2019 07; 51(7):1092-1098. PMID: 31209396.
      Citations: 67     Fields:    Translation:Humans
    15. Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2019 Feb 07; 104(2):356. PMID: 30735661.
      Citations: 11     Fields:    
    16. Meyer K, Feldman HM, Lu T, Drake D, Lim ET, Ling KH, Bishop NA, Pan Y, Seo J, Lin YT, Su SC, Church GM, Tsai LH, Yankner BA. REST and Neural Gene Network Dysregulation in iPSC Models of Alzheimer's Disease. Cell Rep. 2019 01 29; 26(5):1112-1127.e9. PMID: 30699343.
      Citations: 85     Fields:    Translation:HumansCells
    17. Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018 12 06; 103(6):930-947. PMID: 30503522.
      Citations: 107     Fields:    Translation:HumansCells
    18. Coulter ME, Dorobantu CM, Lodewijk GA, Delalande F, Cianferani S, Ganesh VS, Smith RS, Lim ET, Xu CS, Pang S, Wong ET, Lidov HGW, Calicchio ML, Yang E, Gonzalez DM, Schlaeger TM, Mochida GH, Hess H, Lee WA, Lehtinen MK, Kirchhausen T, Haussler D, Jacobs FMJ, Gaudin R, Walsh CA. The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. Cell Rep. 2018 07 24; 24(4):973-986.e8. PMID: 30044992.
      Citations: 41     Fields:    Translation:HumansAnimalsCells
    19. Yeo NC, Chavez A, Lance-Byrne A, Chan Y, Menn D, Milanova D, Kuo CC, Guo X, Sharma S, Tung A, Cecchi RJ, Tuttle M, Pradhan S, Lim ET, Davidsohn N, Ebrahimkhani MR, Collins JJ, Lewis NE, Kiani S, Church GM. An enhanced CRISPR repressor for targeted mammalian gene regulation. Nat Methods. 2018 Aug; 15(8):611-616. PMID: 30013045.
      Citations: 170     Fields:    Translation:HumansCells
    20. Chan Y, Chan YK, Goodman DB, Guo X, Chavez A, Lim ET, Church GM. Enabling multiplexed testing of pooled donor cells through whole-genome sequencing. Genome Med. 2018 04 19; 10(1):31. PMID: 29673390.
      Citations: 3     Fields:    Translation:HumansCells
    21. Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM, Church GM, Scherer SW, Buxbaum JD, Walsh CA. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2017 09; 20(9):1217-1224. PMID: 28714951.
      Citations: 137     Fields:    Translation:HumansCells
    22. Chan Y, Tung M, Garruss AS, Zaranek SW, Chan YK, Lunshof JE, Zaranek AW, Ball MP, Chou MF, Lim ET, Church GM. An unbiased index to quantify participant's phenotypic contribution to an open-access cohort. Sci Rep. 2017 04 07; 7:46148. PMID: 28387241.
      Citations: 3     Fields:    Translation:Humans
    23. Zhang WC, Chin TM, Yang H, Nga ME, Lunny DP, Lim EK, Sun LL, Pang YH, Leow YN, Malusay SR, Lim PX, Lee JZ, Tan BJ, Shyh-Chang N, Lim EH, Lim WT, Tan DS, Tan EH, Tai BC, Soo RA, Tam WL, Lim B. Tumour-initiating cell-specific miR-1246 and miR-1290 expression converge to promote non-small cell lung cancer progression. Nat Commun. 2016 06 21; 7:11702. PMID: 27325363.
      Citations: 118     Fields:    Translation:HumansAnimalsCells
    24. Chan Y, Salem RM, Hsu YH, McMahon G, Pers TH, Vedantam S, Esko T, Guo MH, Lim ET, Franke L, Smith GD, Strachan DP, Hirschhorn JN. Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development. Am J Hum Genet. 2015 May 07; 96(5):695-708. PMID: 25865494.
      Citations: 39     Fields:    Translation:Humans
    25. Ruderfer DM, Lim ET, Genovese G, Moran JL, Hultman CM, Sullivan PF, McCarroll SA, Holmans P, Sklar P, Purcell SM. No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia. Eur J Hum Genet. 2015 Apr; 23(4):555-7. PMID: 25370044.
      Citations: 16     Fields:    Translation:Humans
    26. Lim ET, Liu YP, Chan Y, Tiinamaija T, K?r?j?m?ki A, Madsen E, Altshuler DM, Raychaudhuri S, Groop L, Flannick J, Hirschhorn JN, Katsanis N, Daly MJ. 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. PMID: 25439097.
      Citations: 18     Fields:    Translation:HumansAnimals
    27. Lim ET, W?rtz P, Havulinna AS, Palta P, Tukiainen T, Rehnstr?m K, Esko T, M?gi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, Manning A, Ladenvall C, Bumpstead S, H?m?l?inen E, Aalto K, Maksimow M, Salmi M, Blankenberg S, Ardissino D, Shah S, Horne B, McPherson R, Hovingh GK, Reilly MP, Watkins H, Goel A, Farrall M, Girelli D, Reiner AP, Stitziel NO, Kathiresan S, Gabriel S, Barrett JC, Lehtim?ki T, Laakso M, Groop L, Kaprio J, Perola M, McCarthy MI, Boehnke M, Altshuler DM, Lindgren CM, Hirschhorn JN, Metspalu A, Freimer NB, Zeller T, Jalkanen S, Koskinen S, Raitakari O, Durbin R, MacArthur DG, Salomaa V, Ripatti S, Daly MJ, Palotie A. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet. 2014 Jul; 10(7):e1004494. PMID: 25078778.
      Citations: 201     Fields:    Translation:Humans
    28. Chan Y, Lim ET, Sandholm N, Wang SR, McKnight AJ, Ripke S, Daly MJ, Neale BM, Salem RM, Hirschhorn JN. 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. PMID: 24607388.
      Citations: 25     Fields:    Translation:Humans
    29. He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genet. 2013; 9(8):e1003671. PMID: 23966865.
      Citations: 130     Fields:    Translation:Humans
    30. Mannstadt M, Harris M, Bravenboer B, Chitturi S, Dreijerink KM, Lambright DG, Lim ET, Daly MJ, Gabriel S, J?ppner H. Germline mutations affecting Ga11 in hypoparathyroidism. N Engl J Med. 2013 Jun 27; 368(26):2532-4. PMID: 23802536.
      Citations: 34     Fields:    Translation:Humans
    31. Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med. 2013 May 23; 368(21):1992-2003. PMID: 23656588.
      Citations: 106     Fields:    Translation:HumansAnimalsCells
    32. Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, Depristo M, Dinh H, Fennel T, Flannick J, Gabriel S, Garimella K, Gross S, Hawes A, Lewis L, Makarov V, Maguire J, Newsham I, Poplin R, Ripke S, Shakir K, Samocha KE, Wu Y, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Schellenberg GD, Sutcliffe JS, Daly MJ, Gibbs RA, Roeder K. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet. 2013 Apr; 9(4):e1003443. PMID: 23593035.
      Citations: 59     Fields:    Translation:Humans
    33. Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73. PMID: 23352163.
      Citations: 214     Fields:    Translation:HumansAnimalsCells
    34. Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013 Jan 23; 77(2):235-42. PMID: 23352160.
      Citations: 140     Fields:    Translation:HumansCells
    35. Haas JT, Winter HS, Lim E, Kirby A, Blumenstiel B, DeFelice M, Gabriel S, Jalas C, Branski D, Grueter CA, Toporovski MS, Walther TC, Daly MJ, Farese RV. DGAT1 mutation is linked to a congenital diarrheal disorder. J Clin Invest. 2012 Dec; 122(12):4680-4. PMID: 23114594.
      Citations: 68     Fields:    Translation:HumansAnimalsCells
    36. Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet. 2012 Jul 13; 91(1):202-8. PMID: 22748208.
      Citations: 46     Fields:    Translation:HumansAnimalsCells
    37. Chahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, Hill RS, Stevens CR, Schubert CR, Greenberg ME, Gabriel SB, Walsh CA. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet. 2012; 8(4):e1002635. PMID: 22511880.
      Citations: 100     Fields:    Translation:HumansCells
    38. Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 Apr 04; 485(7397):242-5. PMID: 22495311.
      Citations: 970     Fields:    Translation:Humans
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