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Michael Guo - Publications

Affiliations: 
Harvard University, Cambridge, MA, United States 
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31 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Dratch L, Bardakjian TM, Johnson K, Babaian N, Gonzalez-Alegre P, Elman L, Quinn C, Guo MH, Scherer SS, Amado DA. The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics. Biology. 13. PMID 38392311 DOI: 10.3390/biology13020093  0.314
2023 Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S, Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, et al. Inferring compound heterozygosity from large-scale exome sequencing data. Nature Genetics. PMID 38057443 DOI: 10.1038/s41588-023-01608-3  0.541
2023 Lofrano-Porto A, Pereira SA, Dauber A, Bloom JC, Fontes AN, Asimow N, de Moraes OL, Araujo PAT, Abreu AP, Guo MH, De Oliveira SF, Liu H, Lee C, Kuohung W, Coelho MS, et al. OSR1 disruption contributes to uterine factor infertility via impaired Müllerian duct development and endometrial receptivity. The Journal of Clinical Investigation. PMID 37847567 DOI: 10.1172/JCI161701  0.575
2023 Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S, Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, et al. Inferring compound heterozygosity from large-scale exome sequencing data. Biorxiv : the Preprint Server For Biology. PMID 36993580 DOI: 10.1101/2023.03.19.533370  0.528
2022 Mouri K, Guo MH, de Boer CG, Lissner MM, Harten IA, Newby GA, DeBerg HA, Platt WF, Gentili M, Liu DR, Campbell DJ, Hacohen N, Tewhey R, Ray JP. Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells. Nature Genetics. PMID 35513721 DOI: 10.1038/s41588-022-01056-5  0.368
2021 Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, ... ... Guo MH, et al. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency. American Journal of Human Genetics. PMID 34270938 DOI: 10.1016/j.ajhg.2021.06.013  0.599
2020 Vuckovic D, Bao EL, Akbari P, Lareau CA, Mousas A, Jiang T, Chen MH, Raffield LM, Tardaguila M, Huffman JE, Ritchie SC, Megy K, Ponstingl H, Penkett CJ, Albers PK, ... ... Guo MH, et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell. 182: 1214-1231.e11. PMID 32888494 DOI: 10.1016/J.Cell.2020.08.008  0.372
2020 Chen MH, Raffield LM, Mousas A, Sakaue S, Huffman JE, Moscati A, Trivedi B, Jiang T, Akbari P, Vuckovic D, Bao EL, Zhong X, Manansala R, Laplante V, Chen M, ... ... Guo MH, et al. Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. Cell. 182: 1198-1213.e14. PMID 32888493 DOI: 10.1016/J.Cell.2020.06.045  0.324
2019 Ulirsch JC, Lareau CA, Bao EL, Ludwig LS, Guo MH, Benner C, Satpathy AT, Kartha VK, Salem RM, Hirschhorn JN, Finucane HK, Aryee MJ, Buenrostro JD, Sankaran VG. Interrogation of human hematopoiesis at single-cell and single-variant resolution. Nature Genetics. PMID 30858613 DOI: 10.1038/S41588-019-0362-6  0.731
2018 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, et al. The Genetic Landscape of Diamond-Blackfan Anemia. American Journal of Human Genetics. PMID 30503522 DOI: 10.1016/J.Ajhg.2018.10.027  0.344
2018 Guo MH, Plummer L, Chan YM, Hirschhorn JN, Lippincott MF. Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. American Journal of Human Genetics. PMID 30269813 DOI: 10.1016/J.Ajhg.2018.08.016  0.521
2018 Guo MH, Hirschhorn JN, Dauber A. Insights and implications of genome wide association studies of height. The Journal of Clinical Endocrinology and Metabolism. PMID 29982553 DOI: 10.1210/Jc.2018-01126  0.669
2018 Cesana M, Guo MH, Cacchiarelli D, Wahlster L, Barragan J, Doulatov S, Vo LT, Salvatori B, Trapnell C, Clement K, Cahan P, Tsanov KM, Sousa PM, Tazon-Vega B, Bolondi A, et al. A CLK3-HMGA2 Alternative Splicing Axis Impacts Human Hematopoietic Stem Cell Molecular Identity throughout Development. Cell Stem Cell. 22: 575-588.e7. PMID 29625070 DOI: 10.1016/J.Stem.2018.03.012  0.445
2018 Bao EL, Ulirsch JC, Lareau CA, Ludwig LS, Guo MH, Benner C, Satpathy AT, Kartha VK, Salem RM, Hirschhorn JN, Finucane HK, Aryee MJ, Buenrostro JD, Sankaran VG. Dissecting the Regulation of Human Hematopoiesis at Single-Cell and Single-Variant Resolution Blood. 132: 531-531. DOI: 10.1182/Blood-2018-99-112624  0.716
2017 Guo M, Liu Z, Willen J, Shaw CP, Richard D, Jagoda E, Doxey AC, Hirschhorn J, Capellini TD. Epigenetic profiling of growth plate chondrocytes sheds insight into regulatory genetic variation influencing height. Elife. 6. PMID 29205154 DOI: 10.7554/Elife.29329  0.563
2017 Ocaranza P, Golekoh MC, Andrew SF, Guo MH, Kaplowitz P, Saal H, Rosenfeld RG, Dauber A, Cassorla F, Backeljauw PF, Hwa V. Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies. Hormone Research in Paediatrics. PMID 28395282 DOI: 10.1159/000464143  0.56
2017 Guo M, Liu Z, Willen J, Shaw CP, Richard D, Jagoda E, Doxey AC, Hirschhorn J, Capellini TD. Author response: Epigenetic profiling of growth plate chondrocytes sheds insight into regulatory genetic variation influencing height Elife. DOI: 10.7554/Elife.29329.037  0.501
2016 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, et al. Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms. Proceedings of the National Academy of Sciences of the United States of America. PMID 28031487 DOI: 10.1073/Pnas.1619052114  0.719
2016 Swartz JM, Ciarlo R, Guo MH, Abrha A, Weaver B, Diamond DA, Chan YM, Hirschhorn JN. A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. Hormone Research in Paediatrics. PMID 27855412 DOI: 10.1159/000452888  0.475
2016 Nilsson O, Isoherranen N, Guo MH, Lui JC, Jee YH, Guttmann-Bauman I, Acerini C, Lee W, Allikmets R, Yanovski JA, Dauber A, Baron J. Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature. Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme. PMID 27589347 DOI: 10.1055/S-0042-114038  0.58
2016 Swartz JM, Ciarlo R, Guo MH, Abrha A, Diamond DA, Chan YM, Hirschhorn JN. Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing. Hormone Research in Paediatrics. PMID 27553487 DOI: 10.1159/000448754  0.507
2016 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. PMID 27545677 DOI: 10.1016/J.Ajhg.2016.06.031  0.722
2015 Giani FC, Fiorini C, Wakabayashi A, Ludwig LS, Salem RM, Jobaliya CD, Regan SN, Ulirsch JC, Liang G, Steinberg-Shemer O, Guo MH, Esko T, Tong W, Brugnara C, Hirschhorn JN, et al. Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells. Cell Stem Cell. PMID 26607381 DOI: 10.1016/J.Stem.2015.09.015  0.669
2015 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. American Journal of Human Genetics. 96: 695-708. PMID 25865494 DOI: 10.1016/J.Ajhg.2015.02.018  0.722
2015 Quintos JB, Guo MH, Dauber A. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene. Journal of Pediatric Endocrinology and Metabolism. 28: 927-932. PMID 25741789 DOI: 10.1515/Jpem-2014-0450  0.578
2015 Zhu J, Choa RE, 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. The Journal of Clinical Endocrinology and Metabolism. 100: E646-54. PMID 25636053 DOI: 10.1210/Jc.2015-1080  0.513
2014 Kerns SL, Guevara-Aguirre J, Andrew S, Geng J, Guevara C, Guevara-Aguirre M, Guo M, Oddoux C, Shen Y, Zurita A, Rosenfeld RG, Ostrer H, Hwa V, Dauber A. A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes. The Journal of Clinical Endocrinology and Metabolism. 99: E2117-22. PMID 25057881 DOI: 10.1210/Jc.2014-1949  0.564
2014 Guo MH, Shen Y, Walvoord EC, Miller TC, Moon JE, Hirschhorn JN, Dauber A. Whole exome sequencing to identify genetic causes of short stature. Hormone Research in Pã¦Diatrics. 82: 44-52. PMID 24970356 DOI: 10.1159/000360857  0.685
2014 Nilsson O, Guo MH, Dunbar N, Popovic J, Flynn D, Jacobsen C, Lui JC, Hirschhorn JN, Baron J, Dauber A. Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. The Journal of Clinical Endocrinology and Metabolism. 99: E1510-8. PMID 24762113 DOI: 10.1210/Jc.2014-1332  0.6
2014 Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, Kochi Y, Ohmura K, Suzuki A, Yoshida S, Graham RR, Manoharan A, Ortmann W, Bhangale T, Denny JC, ... ... Guo MH, et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature. 506: 376-81. PMID 24390342 DOI: 10.1038/Nature12873  0.304
2013 Guo MH, Stoler J, Lui J, Nilsson O, Bianchi DW, Hirschhorn JN, Dauber A. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. American Journal of Medical Genetics. Part A. 161: 2519-27. PMID 23956117 DOI: 10.1002/Ajmg.A.36128  0.649
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