Margaux Hujoel

Title(s)Assistant Professor, Human Genetics
SchoolMedicine
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    Title(s)Assistant Professor, Computational Medicine


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    1. Human and bacterial genetic variation shape oral microbiomes and health. medRxiv. 2025 Apr 01. Kamitaki N, Handsaker RE, Hujoel MLA, Mukamel RE, Usher CL, McCarroll SA, Loh PR. PMID: 40236410; PMCID: PMC11998847.
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    2. Interpreting MYH11 Copy Number Variation in Thoracic Aortic Aneurysm and Dissection: Insights From the Misannotation of Variants in Clinical Genetic Tests. JACC Case Rep. 2025 Mar 19; 30(6 Pt 1):102973. Schwartzman WE, Hujoel MLA, Channaoui N, Lee-Kim V, Loh PR, Gupta RM. PMID: 40118599; PMCID: PMC12011163.
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    3. Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants. bioRxiv. 2024 Nov 26. Hujoel MLA, Handsaker RE, Kamitaki N, Mukamel RE, Rubinacci S, Palamara PF, McCarroll SA, Loh PR. PMID: 39651202; PMCID: PMC11623664.
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    4. Symptom Outcomes of Celiac Disease in Those on a Gluten-free Diet. J Clin Gastroenterol. 2024 Sep 01; 58(8):781-788. Hujoel IA, Hujoel MLA, Choung RS, Murray JA. PMID: 38019078.
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    5. Large-scale discovery of chromatin dysregulation induced by oncofusions and other protein-coding variants. Nat Biotechnol. 2024 Jul 24. Frenkel M, Corban JE, Hujoel MLA, Morris Z, Raman S. PMID: 39048711.
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    6. A sequence of SVA retrotransposon insertions in ASIP shaped human pigmentation. Nat Genet. 2024 Aug; 56(8):1583-1591. Kamitaki N, Hujoel MLA, Mukamel RE, Gebara E, McCarroll SA, Loh PR. PMID: 39048794; PMCID: PMC11319198.
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    7. Protein-altering variants at copy number-variable regions influence diverse human phenotypes. Nat Genet. 2024 Apr; 56(4):569-578. Hujoel MLA, Handsaker RE, Sherman MA, Kamitaki N, Barton AR, Mukamel RE, Terao C, McCarroll SA, Loh PR. PMID: 38548989; PMCID: PMC11018521.
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    8. The Rising Incidence and Poor Outcomes of Enteropathy-Associated T-Cell Lymphoma. Am J Gastroenterol. 2024 07 01; 119(7):1412-1416. Hujoel IA, Hujoel MLA. PMID: 38235779.
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    9. Investigating the role of iron status in the development of coeliac disease: a Mendelian randomisation study. BMJ Open Gastroenterol. 2024 01 04; 11(1). Hujoel IA, Hujoel MLA. PMID: 38177066; PMCID: PMC10773400.
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    10. Discovering chromatin dysregulation induced by protein-coding perturbations at scale. bioRxiv. 2023 Sep 21. Frenkel M, Hujoel MLA, Morris Z, Raman S. PMID: 37781603; PMCID: PMC10541138.
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    11. Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer. Cell. 2023 08 17; 186(17):3659-3673.e23. Mukamel RE, Handsaker RE, Sherman MA, Barton AR, Hujoel MLA, McCarroll SA, Loh PR. PMID: 37527660; PMCID: PMC10528368.
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    12. Hidden protein-altering variants influence diverse human phenotypes. bioRxiv. 2023 Jun 09. Hujoel MLA, Handsaker RE, Sherman MA, Kamitaki N, Barton AR, Mukamel RE, Terao C, McCarroll SA, Loh PR. PMID: 37333244; PMCID: PMC10274781.
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    13. Influences of rare copy-number variation on human complex traits. Cell. 2022 10 27; 185(22):4233-4248.e27. Hujoel MLA, Sherman MA, Barton AR, Mukamel RE, Sankaran VG, Terao C, Loh PR. PMID: 36306736; PMCID: PMC9800003.
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    14. Incorporating family history of disease improves polygenic risk scores in diverse populations. Cell Genom. 2022 Jul 13; 2(7). Hujoel MLA, Loh PR, Neale BM, Price AL. PMID: 35935918; PMCID: PMC9351615.
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    15. A spectrum of recessiveness among Mendelian disease variants in UK Biobank. Am J Hum Genet. 2022 07 07; 109(7):1298-1307. Barton AR, Hujoel MLA, Mukamel RE, Sherman MA, Loh PR. PMID: 35649421; PMCID: PMC9300759.
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    16. Vitamin C and scar strength: analysis of a historical trial and implications for collagen-related pathologies. Am J Clin Nutr. 2022 01 11; 115(1):8-17. Hujoel PP, Hujoel MLA. PMID: 34396385.
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    17. The Role of Copper and Zinc in Irritable Bowel Syndrome: A Mendelian Randomization Study. Am J Epidemiol. 2022 01 01; 191(1):85-92. Hujoel IA, Hujoel MLA. PMID: 34132328.
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    18. Bleeding tendency and ascorbic acid requirements: systematic review and meta-analysis of clinical trials. Nutr Rev. 2021 08 09; 79(9):964-975. Hujoel PP, Kato T, Hujoel IA, Hujoel MLA. PMID: 33517432.
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    19. Estimating the Impact of Verification Bias on Celiac Disease Testing. J Clin Gastroenterol. 2021 04 01; 55(4):327-334. Hujoel IA, Jansson-Knodell CL, Hujoel PP, Hujoel MLA, Choung RS, Murray JA, Rubio-Tapia A. PMID: 32433257; PMCID: PMC7674196.
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    20. Statistical approaches for meta-analysis of genetic mutation prevalence. Genet Epidemiol. 2021 03; 45(2):154-170. Hujoel MLA, Parmigiani G, Braun D. PMID: 33000511; PMCID: PMC10391692.
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    21. Liability threshold modeling of case-control status and family history of disease increases association power. Nat Genet. 2020 05; 52(5):541-547. Hujoel MLA, Gazal S, Loh PR, Patterson N, Price AL. PMID: 32313248; PMCID: PMC7210076.
      View in: PubMed   Mentions: 50     Fields:    
    22. Functional disease architectures reveal unique biological role of transposable elements. Nat Commun. 2019 09 06; 10(1):4054. Hormozdiari F, van de Geijn B, Nasser J, Weissbrod O, Gazal S, Ju CJ, Connor LO, Hujoel MLA, Engreitz J, Hormozdiari F, Price AL. PMID: 31492842; PMCID: PMC6731302.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    23. Disease Heritability Enrichment of Regulatory Elements Is Concentrated in Elements with Ancient Sequence Age and Conserved Function across Species. Am J Hum Genet. 2019 04 04; 104(4):611-624. Hujoel MLA, Gazal S, Hormozdiari F, van de Geijn B, Price AL. PMID: 30905396; PMCID: PMC6451699.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansAnimalsCells
    24. Personal oral hygiene and dental caries: A systematic review of randomised controlled trials. Gerodontology. 2018 Dec; 35(4):282-289. Hujoel PP, Hujoel MLA, Kotsakis GA. PMID: 29766564.
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