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Angel Mak, PhD

Title(s)Specialist, Medicine
SchoolSchool of Medicine
Phone415-514-9931
ORCID ORCID Icon0000-0002-5372-4198 Additional info
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. McGeachie MJ, Sordillo JE, Dahlin A, Wang AL, Lutz SM, Tantisira KG, Panganiban R, Lu Q, Sajuthi S, Urbanek C, Kelly R, Saef B, Eng C, Oh SS, Kho AT, Croteau-Chonka DC, Weiss ST, Raby BA, Mak ACY, Rodriguez-Santana JR, Burchard EG, Seibold MA, Wu AC. Expression of SMARCD1 interacts with age in association with asthma control on inhaled corticosteroid therapy. Respir Res. 2020 Jan 28; 21(1):31. PMID: 31992292.
      View in: PubMed
    2. Pham P, Malik S, Mak C, Calabrese PC, Roeder RG, Goodman MF. AID-RNA polymerase II transcription-dependent deamination of IgV DNA. Nucleic Acids Res. 2019 Nov 18; 47(20):10815-10829. PMID: 31566237.
      View in: PubMed
    3. Zeiger AM, McGarry ME, Mak ACY, Medina V, Salazar S, Eng C, Liu AK, Oh SS, Nuckton TJ, Jain D, Blackwell TW, Kang HM, Abecasis G, Oñate LC, Seibold MA, Burchard EG, Rodriguez-Santana J. Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico. Pediatr Pulmonol. 2020 02; 55(2):533-540. PMID: 31665830.
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    4. Wong KHY, Levy-Sakin M, Ma W, Gonzaludo N, Mak ACY, Vaka D, Poon A, Chu C, Lao R, Balamir M, Grenville Z, Wong N, Kane JP, Kwok PY, Malloy MJ, Pullinger CR. Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis. Mol Genet Genomic Med. 2019 12; 7(12):e1007. PMID: 31617323.
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    5. Kachroo P, Hecker J, Chawes BL, Ahluwalia TS, Cho MH, Qiao D, Kelly RS, Chu SH, Virkud YV, Huang M, Barnes KC, Burchard EG, Eng C, Hu D, Celedón JC, Daya M, Levin AM, Gui H, Williams LK, Forno E, Mak ACY, Avila L, Soto-Quiros ME, Cloutier MM, Acosta-Pérez E, Canino G, Bønnelykke K, Bisgaard H, Raby BA, Lange C, Weiss ST, Lasky-Su JA. Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma. Chest. 2019 Dec; 156(6):1068-1079. PMID: 31557467.
      View in: PubMed
    6. Szpiech ZA, Mak ACY, White MJ, Hu D, Eng C, Burchard EG, Hernandez RD. Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity. Am J Hum Genet. 2019 10 03; 105(4):747-762. PMID: 31543216.
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    7. Lind AL, Lai YYY, Mostovoy Y, Holloway AK, Iannucci A, Mak ACY, Fondi M, Orlandini V, Eckalbar WL, Milan M, Rovatsos M, Kichigin IG, Makunin AI, Johnson Pokorná M, Altmanová M, Trifonov VA, Schijlen E, Kratochvíl L, Fani R, Velenský P, Rehák I, Patarnello T, Jessop TS, Hicks JW, Ryder OA, Mendelson JR, Ciofi C, Kwok PY, Pollard KS, Bruneau BG. Genome of the Komodo dragon reveals adaptations in the cardiovascular and chemosensory systems of monitor lizards. Nat Ecol Evol. 2019 08; 3(8):1241-1252. PMID: 31358948.
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    8. Lee EY, Oh SS, White MJ, Eng CS, Elhawary JR, Borrell LN, Nuckton TJ, Zeiger AM, Keys KL, Mak ACY, Hu D, Huntsman S, Contreras MG, Samedy LA, Goddard PC, Salazar SL, Brigino-Buenaventura EN, Davis A, Meade KE, LeNoir MA, Lurmann FW, Burchard EG, Eisen EA, Balmes JR. Ambient air pollution, asthma drug response, and telomere length in African American youth. J Allergy Clin Immunol. 2019 Sep; 144(3):839-845.e10. PMID: 31247265.
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    9. Ashar FN, Mitchell RN, Albert CM, Newton-Cheh C, Brody JA, Müller-Nurasyid M, Moes A, Meitinger T, Mak A, Huikuri H, Junttila MJ, Goyette P, Pulit SL, Pazoki R, Tanck MW, Blom MT, Zhao X, Havulinna AS, Jabbari R, Glinge C, Tragante V, Escher SA, Chakravarti A, Ehret G, Coresh J, Li M, Prineas RJ, Franco OH, Kwok PY, Lumley T, Dumas F, McKnight B, Rotter JI, Lemaitre RN, Heckbert SR, O'Donnell CJ, Hwang SJ, Tardif JC, VanDenburgh M, Uitterlinden AG, Hofman A, Stricker BHC, de Bakker PIW, Franks PW, Jansson JH, Asselbergs FW, Halushka MK, Maleszewski JJ, Tfelt-Hansen J, Engstrøm T, Salomaa V, Virmani R, Kolodgie F, Wilde AAM, Tan HL, Bezzina CR, Eijgelsheim M, Rioux JD, Jouven X, Kääb S, Psaty BM, Siscovick DS, Arking DE, Sotoodehnia N. A comprehensive evaluation of the genetic architecture of sudden cardiac arrest. Eur Heart J. 2018 11 21; 39(44):3961-3969. PMID: 30169657.
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    10. Spear ML, Hu D, Pino-Yanes M, Huntsman S, Eng C, Levin AM, Ortega VE, White MJ, McGarry ME, Thakur N, Galanter J, Mak ACY, Oh SS, Ampleford E, Peters SP, Davis A, Kumar R, Farber HJ, Meade K, Avila PC, Serebrisky D, Lenoir MA, Brigino-Buenaventura E, Cintron WR, Thyne SM, Rodriguez-Santana JR, Ford JG, Chapela R, Estrada AM, Sandoval K, Seibold MA, Winkler CA, Bleecker ER, Myers DA, Williams LK, Hernandez RD, Torgerson DG, Burchard EG. A genome-wide association and admixture mapping study of bronchodilator drug response in African Americans with asthma. Pharmacogenomics J. 2019 06; 19(3):249-259. PMID: 30206298.
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    11. Zeiger AM, White MJ, Eng C, Oh SS, Witonsky J, Goddard PC, Contreras MG, Elhawary JR, Hu D, Mak ACY, Lee EY, Keys KL, Samedy LA, Risse-Adams O, Magaña J, Huntsman S, Salazar S, Davis A, Meade K, Brigino-Buenaventura E, LeNoir MA, Farber HJ, Bibbins-Domingo K, Borrell LN, Burchard EG. Genetic Determinants of Telomere Length in African American Youth. Sci Rep. 2018 09 05; 8(1):13265. PMID: 30185882.
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    12. Mak ACY, White MJ, Eckalbar WL, Szpiech ZA, Oh SS, Pino-Yanes M, Hu D, Goddard P, Huntsman S, Galanter J, Wu AC, Himes BE, Germer S, Vogel JM, Bunting KL, Eng C, Salazar S, Keys KL, Liberto J, Nuckton TJ, Nguyen TA, Torgerson DG, Kwok PY, Levin AM, Celedón JC, Forno E, Hakonarson H, Sleiman PM, Dahlin A, Tantisira KG, Weiss ST, Serebrisky D, Brigino-Buenaventura E, Farber HJ, Meade K, Lenoir MA, Avila PC, Sen S, Thyne SM, Rodriguez-Cintron W, Winkler CA, Moreno-Estrada A, Sandoval K, Rodriguez-Santana JR, Kumar R, Williams LK, Ahituv N, Ziv E, Seibold MA, Darnell RB, Zaitlen N, Hernandez RD, Burchard EG. Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma. Am J Respir Crit Care Med. 2018 06 15; 197(12):1552-1564. PMID: 29509491.
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    13. Neophytou AM, Oh SS, White MJ, Mak ACY, Hu D, Huntsman S, Eng C, Serebrisky D, Borrell LN, Farber HJ, Meade K, Davis A, Avila PC, Thyne SM, Rodríguez-Cintrón W, Rodríguez-Santana JR, Kumar R, Brigino-Buenaventura E, Sen S, Lenoir MA, Williams LK, Benowitz NL, Balmes JR, Eisen EA, Burchard EG. Secondhand smoke exposure and asthma outcomes among African-American and Latino children with asthma. Thorax. 2018 11; 73(11):1041-1048. PMID: 29899038.
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    14. Gour N, Lajoie S, Smole U, White M, Hu D, Goddard P, Huntsman S, Eng C, Mak A, Oh S, Kim JH, Sharma A, Plante S, Salem IH, Resch Y, Xiao X, Yao N, Singh A, Vrtala S, Chakir J, Burchard EG, Lane AP, Wills-Karp M. Dysregulated invertebrate tropomyosin-dectin-1 interaction confers susceptibility to allergic diseases. Sci Immunol. 2018 02 23; 3(20). PMID: 29475849.
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    15. Li L, Leung AK, Kwok TP, Lai YYY, Pang IK, Chung GT, Mak ACY, Poon A, Chu C, Li M, Wu JJK, Lam ET, Cao H, Lin C, Sibert J, Yiu SM, Xiao M, Lo KW, Kwok PY, Chan TF, Yip KY. OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps. Genome Biol. 2017 Dec 01; 18(1):230. PMID: 29195502.
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    16. Young E, Pastor S, Rajagopalan R, McCaffrey J, Sibert J, Mak ACY, Kwok PY, Riethman H, Xiao M. High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres. Nucleic Acids Res. 2017 May 19; 45(9):e73. PMID: 28180280.
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    17. Hernandez-Pacheco N, Flores C, Alonso S, Eng C, Mak AC, Hunstman S, Hu D, White MJ, Oh SS, Meade K, Farber HJ, Avila PC, Serebrisky D, Thyne SM, Brigino-Buenaventura E, Rodriguez-Cintron W, Sen S, Kumar R, Lenoir M, Rodriguez-Santana JR, Burchard EG, Pino-Yanes M. Identification of a novel locus associated with skin colour in African-admixed populations. Sci Rep. 2017 03 16; 7:44548. PMID: 28300201.
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    18. Zaitlen N, Huntsman S, Hu D, Spear M, Eng C, Oh SS, White MJ, Mak A, Davis A, Meade K, Brigino-Buenaventura E, LeNoir MA, Bibbins-Domingo K, Burchard EG, Halperin E. The Effects of Migration and Assortative Mating on Admixture Linkage Disequilibrium. Genetics. 2017 01; 205(1):375-383. PMID: 27879348.
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    19. Mak AC, Tang PL, Cleveland C, Smith MH, Kari Connolly M, Katsumoto TR, Wolters PJ, Kwok PY, Criswell LA. Brief Report: Whole-Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis. Arthritis Rheumatol. 2016 09; 68(9):2257-62. PMID: 27111861.
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    20. Mooney SJ, Grady ST, Sotoodehnia N, Lemaitre RN, Wallace ER, Mohanty AF, Yee J, Siscovick DS, Rea TD, McKnight B, Kwok PY, Mak AC, Hesselson S, Lovasi GS. In the Wrong Place with the Wrong SNP: The Association Between Stressful Neighborhoods and Cardiac Arrest Within Beta-2-adrenergic Receptor Variants. Epidemiology. 2016 09; 27(5):656-62. PMID: 27153462.
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    21. Neophytou AM, White MJ, Oh SS, Thakur N, Galanter JM, Nishimura KK, Pino-Yanes M, Torgerson DG, Gignoux CR, Eng C, Nguyen EA, Hu D, Mak AC, Kumar R, Seibold MA, Davis A, Farber HJ, Meade K, Avila PC, Serebrisky D, Lenoir MA, Brigino-Buenaventura E, Rodriguez-Cintron W, Bibbins-Domingo K, Thyne SM, Williams LK, Sen S, Gilliland FD, Gauderman WJ, Rodriguez-Santana JR, Lurmann F, Balmes JR, Eisen EA, Burchard EG. Air Pollution and Lung Function in Minority Youth with Asthma in the GALA II (Genes-Environments and Admixture in Latino Americans) and SAGE II (Study of African Americans, Asthma, Genes, and Environments) Studies. Am J Respir Crit Care Med. 2016 06 01; 193(11):1271-80. PMID: 26734713.
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    22. Mak AC, Lai YY, Lam ET, Kwok TP, Leung AK, Poon A, Mostovoy Y, Hastie AR, Stedman W, Anantharaman T, Andrews W, Zhou X, Pang AW, Dai H, Chu C, Lin C, Wu JJ, Li CM, Li JW, Yim AK, Chan S, Sibert J, Džakula Ž, Cao H, Yiu SM, Chan TF, Yip KY, Xiao M, Kwok PY. Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays. Genetics. 2016 Jan; 202(1):351-62. PMID: 26510793.
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    23. Mak AC, Pullinger CR, Tang LF, Wong JS, Deo RC, Schwarz JM, Gugliucci A, Movsesyan I, Ishida BY, Chu C, Poon A, Kim P, Stock EO, Schaefer EJ, Asztalos BF, Castellano JM, Wyss-Coray T, Duncan JL, Miller BL, Kane JP, Kwok PY, Malloy MJ. Effects of the absence of apolipoprotein e on lipoproteins, neurocognitive function, and retinal function. JAMA Neurol. 2014 Oct; 71(10):1228-36. PMID: 25111166.
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    24. Ilkhanoff L, Arking DE, Lemaitre RN, Alonso A, Chen LY, Durda P, Hesselson SE, Kerr KF, Magnani JW, Marcus GM, Schnabel RB, Smith JG, Soliman EZ, Reiner AP, Sotoodehnia N. A common SCN5A variant is associated with PR interval and atrial fibrillation among African Americans. J Cardiovasc Electrophysiol. 2014 Nov; 25(11):1150-7. PMID: 25065297.
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    25. O'Bleness M, Searles VB, Dickens CM, Astling D, Albracht D, Mak AC, Lai YY, Lin C, Chu C, Graves T, Kwok PY, Wilson RK, Sikela JM. Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome. BMC Genomics. 2014 May 20; 15:387. PMID: 24885025.
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    26. Lemaitre RN, Johnson CO, Hesselson S, Sotoodehnia N, Sotoodhenia N, McKnight B, Sitlani CM, Rea TD, King IB, Kwok PY, Mak A, Li G, Brody J, Larson E, Mozaffarian D, Psaty BM, Huertas-Vazquez A, Tardif JC, Albert CM, Lyytikäinen LP, Arking DE, Kääb S, Huikuri HV, Krijthe BP, Eijgelsheim M, Wang YA, Reinier K, Lehtimäki T, Pulit SL, Brugada R, Müller-Nurasyid M, Newton-Cheh CH, Karhunen PJ, Stricker BH, Goyette P, Rotter JI, Chugh SS, Chakravarti A, Jouven X, Siscovick DS. Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest. Heart Rhythm. 2014 Mar; 11(3):471-7. PMID: 24418166.
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    27. Leung VY, Gao B, Leung KK, Melhado IG, Wynn SL, Au TY, Dung NW, Lau JY, Mak AC, Chan D, Cheah KS. SOX9 governs differentiation stage-specific gene expression in growth plate chondrocytes via direct concomitant transactivation and repression. PLoS Genet. 2011 Nov; 7(11):e1002356. PMID: 22072985.
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    28. Mak AC, Szeto IY, Fritzsch B, Cheah KS. Differential and overlapping expression pattern of SOX2 and SOX9 in inner ear development. Gene Expr Patterns. 2009 Sep; 9(6):444-53. PMID: 19427409.
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    29. Wernig G, Kharas MG, Okabe R, Moore SA, Leeman DS, Cullen DE, Gozo M, McDowell EP, Levine RL, Doukas J, Mak CC, Noronha G, Martin M, Ko YD, Lee BH, Soll RM, Tefferi A, Hood JD, Gilliland DG. Efficacy of TG101348, a selective JAK2 inhibitor, in treatment of a murine model of JAK2V617F-induced polycythemia vera. Cancer Cell. 2008 Apr; 13(4):311-20. PMID: 18394554.
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