Publications

Guo MH and Gregg AR. Estimating yields of carrier screening and implications for design of expanded carrier screening panels. Genetics in Medicine. 2019. 21(9):1940-47. PMID: 30846881. [feature article for September 2019 issue]

Guo MH, Plummer LC, Chan Y-M, Hirschhorn JN, and Lippincott MF. Burden testing of rare variants identified through exome sequencing via publicly available control data. American Journal of Human Genetics. 2018. 103(4):522-534. PMID: 30269813

Guo MH, Hirschhorn JN, Dauber A. Insights and implications of genome wide association studies of height. Journal of Clinical Endocrinology and Metabolism. 2018. 103(9):3155-68. PMID: 29982553.

Cesana M*, Guo MH*, Cacchiarelli D*, Wahlster L, Doulatov S, Salvatori B, Trapnell C, Ziller MJ, Clement K, Cahan P, Tsanov K, Sousa P, Barragan J, Tazon-Vega B, Giorgi FM, Bolondi A, Califano A, Rinn JL, Meissner A, Hirschhorn JN, and Daley GQ. Alternative splicing of HMGA2 by CLK3 governs human hematopoietic stem cell ontogeny. Cell Stem Cell. 2018. 22(4):575-588. PMID: 29625070. *co-first authors [cover article]  

Guo M*, Liu Z*, Willen J*, Shaw CP, Richard D, Dingwall H, Jagoda E, Doxey A, Hirschhorn JN and Capellini T. Epigenetic profiling of growth plate chondrocytes sheds insight into genetic variation influencing height. eLife. 2017. e29329. PMID: 29205154. *co-first authors

Guo MH*, Nandakumar SK*, Ulirsch JC, Zekavat SM, Buenrostro, JD, Natarajan P, Salem RM, Chiarle R, Mitt M, Kals M, Pärn K, F­ischer K, Milani L, Mägi R, Palta P, Gabriel SB, Metspalu A, Lander ES, Kathiresan S, Hirschhorn JN, Esko T, and Sankaran VG. Comprehensive Genome Sequencing in a Population-based Biobank Provides Insight into Hematopoietic Regulatory Mechanisms. Proceedings of the National Academy of Sciences. 2017. 114(3):E327-36. PMID: 28031487. *co-first authors

Guo MH, Dauber A, Lippincott MF, Chan YM, Salem RM, Hirschhorn JN. Determinants of Power in Gene-based Burden Testing for Monogenic Disorders. American Journal of Human Genetics. 2016. 99(3):527-39. PMID: 27545677

Nilsson O*, Guo MH*, Dunbar N, Popovic J, Flynn D, Jacobsen C, Lui JC, Hirschhorn JN, Baron J, and Dauber A. Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. Journal of Clinical Endocrinology and Metabolism. 2014. 99(8):E1510-8. PMID: 24762113. *co-first authors

Guo MH, Shen Y, Miller TC, Walvoord, E.C., Moon JE, Hirschhorn JN, and Dauber A. Whole exome sequencing to identify genetic causes of short stature. Hormone Research in Pediatrics. 2014. 82(1):44-52. PMID: 24970356

Guo MH, Stoler J, Lui J, Nilsson O, Bianchi DW, Hirschhorn JN, and Dauber, A.  Redefining the progeroid form of Ehlers-Danlos syndrome: Report of the fourth case of B4GALT7 deficiency and review of the literature. American Journal of Medical Genetics. 2013. 161(10):2519-27. PMID: 23956117.

Other collaborative papers

• Vuckovic D, Bao EL, Akbari P, and 100 additional authors including Guo MH. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell. 2020. 182(5):1214-31. PMID: 32888494

• Chen MH, Raffield LM, Mousas A, and 110 additional authors including Guo MH. Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations. Cell. 2020. 182(5):1198-1213. PMID: 32888493

• Beagan JA, Pastuzyn ED, Fernandez LR, Guo MH, Titus KR, Chandrashekar H, Shepherd JD, Phillips-Cremins JE. 3D genome architecture orchestrates activity-dependent gene expression in neurons. Nature Neuroscience. 2020. 23(6):707-17. PMID: 32451484

• Tropea TF, Mak J, Guo MH, Xie SX, Suh E, Rick J, Siderowf A, Weintrab D, Grossman M, Irwin D, Wolk DA, Trojanowski JQ, van Deerlin V, Chen-Plotkin AS. TMEM106B Exerts Genetic Modifier Effects on Longitudinal Cognitive Change in Parkinson’s Disease and Frontotemporal Dementia. Annals of Neurology. 2019. 85(6):801-811. PMID: 30973966

•  Lareau CA, Ulirsch JC, Bao EL, Ludwig LS, Guo MH, Benner C, Satpathy AT, Kartha VK, Salem RM, Hirschhorn JN, Finucane HK, Aryee MJ, Buenrostro JD, and Sankaran VG. Interrogation of human hematopoiesis at single-cell and single-variant resolution. Nature Genetics. 2019. 51(4):683-93. PMID: 30858613

• 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, and Gazda HT. The Genetic Landscape of Diamond-Blackfan Anemia. American Journal of Human Genetics. 2018. 103(6):930-47. PMID 30503522.

• Guo MH, Monir RL, Wright A, Holland NP. Case of serotonin syndrome initially presenting as diffuse body pain. American Journal of Case Reports. 2018. 19:1227-31. PMID: 30318504

• Ocaranza P*, Golekoh MC*, Andrew SF*, Guo MH, Kaplowitz P, Saal S, Rosenfeld RG, Dauber A, Cassorla F, Backeljauw PF, and Hwa V. Expanding genetic and functional diagnoses of IGF1R haploinsufficiencies. Hormone Research. 2017. 87(6):412-22. PMID: 28395282.

• Swartz JM, Ciarlo R, Guo MH, Abrha A, Diamond DA, Chan YM, and Hirschhorn JN. A 46,XX ovotesticular disorder of sex development likely caused by a steroidogenic factor-1 (NR5A1) variant. Hormone Research. 2017. 87(3):191-95. PMID: 27855412

• Swartz JM, Ciarlo R, Guo MH, Abrha A, Diamond DA, Chan YM, and Hirschhorn JN. Two unrelated undervirilized 46,XY males with inherited NR5A1 variants identified by whole exome sequencing. Hormone Research. 2016. 87(4):264-70. PMID: 27553487

• Nilsson O, Isoherranen N, Guo MH, Lui, JC, Jee YH, Guttmann-Bauman I, Acerini C, Lee W, Allikmets R, Yanovski JA, Dauber A, and Baron, J. Accelerated skeletal maturation in disorders of retinoic acid metabolism: A case report and focused review of the literature. Hormone and Metabolic Research. 2016. 48(11):737-744. PMID: 27589347

• Giani FC, Ludwig LS, Wakabayashi A, Salem RM, Jobaliya CD, Regan SN, Ulirsch JC, Liang G, Steinberg-Shemer O, Guo MH, Esko T, Tong W, Brugnara C, Hirschhorn JN, Weiss MJ, Zon LI, Chou ST, French DL, Musunuru K, Sankaran VG. Targeted application of human genetic variation can improve red blood cell production from stem cells. Cell Stem Cell. 2015. 18(1):73-8. PMID: 26607381

• Chan Y, Salem RM, Hsu YH, McMahon G, Pers TH, Vedantam S, Esko, T, Guo MH, Lim ET, GIANT Consortium, Davey Smith G, and Hirschhorn JN. Genome-wide association analysis of body proportion classifies height-associated variants by mechanism of action and implicates genes important for skeletal development. American Journal of Human Genetics. 2015. 96(5):695-708. PMID: 25865494.

• Quintos JB, Guo MH, Dauber A. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene. Journal of Pediatric Endocrinology and Metabolism. 2015. 28(7-8):927-32. PMID: 25741789.

• Zhu J, Choa REY, Guo MH, Plummer L, Buck C, Palmert MR, Hirschhorn JN, Seminara SB, Chan YM. A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. Journal of Clinical Endocrinology and Metabolism. 2015. 100(4):E646-54. PMID: 25636053.

• Wegman MP*, Guo MH*, Bennion DM, Shankar MN, Chrzanowski SM, Goldberg LA, Xu J, Williams TA, Hsu SI, Anton SD, Leeuwenburgh C, Brantly ML. Practicality of Intermittent Fasting in Humans and its Effect on Oxidative Stress and Genes Related to Aging and Metabolism. Rejuvenation Research. 2015. 18(2):162-72. PMID: 25546413. *co-first authors

• Mittwede PN, Noch EK, and Guo MH. A closer look at attrition in MD–PhD programs. Academic Medicine. 2014. 89(7):958-9. PMID: 24979156.

• Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, GoT2D Project, NHGRI JHS/FHS Allelic Spectrum Project, SIGMA T2D Consortium, T2D-GENES Consortium, Rosen ED, and Altshuler D. Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. Proceedings of the National Academy of Sciences. 2014. 111(36):13127-32. PMID: 25157153.

• Kerns SL, Guevara-Aguirre J, Andrew S, Geng J, Guevara C, Guevara-Aguirre M, Guo M, Oddoux, C., Geng J, Shen Y, Rosenfeld RG, Ostrer H, Hwa V, and Dauber A. A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes. Journal of Clinical Endocrinology and Metabolism. 2014. 99(10):E2117-22. PMID: 25057881.

• Okada Y, Wu D, Trynka G, and 92 other authors including Guo MH. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature. 2014. 506(7488):376–381. PMID: 24390342

• Zheng K, Guo MH, and Hanauer DA. Using the time and motion method to study clinical work processes and workflow: Methodological inconsistencies and a call for standardized research. Journal of the American Medical Informatics Association. 2011. 18(5):704–10. PMID: 2152740.­­­