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Transcriptional Regulatory Modulation as a Potential Therapeutic Modality.

Matharu N, Ahituv N. Matharu N, et al. Annu Rev Genomics Hum Genet. 2026 Apr 1. doi: 10.1146/annurev-genom-120324-124041. Online ahead of print. Annu Rev Genomics Hum Genet. 2026. PMID: 41921979 Review.

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Understanding the Role of Functional Noncoding Variation in Human Diseases with Lessons from Immunity.

Peng XP, Greally JM. Peng XP, et al. Annu Rev Genomics Hum Genet. 2026 Apr 1. doi: 10.1146/annurev-genom-020625-084652. Online ahead of print. Annu Rev Genomics Hum Genet. 2026. PMID: 41921966 Review.

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Organoid Perturbations as Tools to Explore Cellular Function and Plasticity.

Kohl KE, Busslinger GA. Kohl KE, et al. Annu Rev Genomics Hum Genet. 2026 Mar 20. doi: 10.1146/annurev-genom-120324-024252. Online ahead of print. Annu Rev Genomics Hum Genet. 2026. PMID: 41861256 Review.

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Pangenomic Initiatives in the Middle East.

Jamalalail B, Hashmi MA, Almarri MA, Soares NC, Haber M, Alkhnbashi OS, Nassir N, Du Plessis SS, Alsheikh-Ali A, Uddin M. Jamalalail B, et al. Annu Rev Genomics Hum Genet. 2026 Mar 10. doi: 10.1146/annurev-genom-020525-030036. Online ahead of print. Annu Rev Genomics Hum Genet. 2026. PMID: 41805559 Review.

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The Genomics and Genetics of Rare Disease Illuminate Human Biology.

Lupski JR, Gibbs RA. Lupski JR, et al. Annu Rev Genomics Hum Genet. 2026 Mar 4. doi: 10.1146/annurev-genom-020525-014546. Online ahead of print. Annu Rev Genomics Hum Genet. 2026. PMID: 41780058 Review.

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Artificial Intelligence in Human Genetics.

Brandes N. Brandes N. Annu Rev Genomics Hum Genet. 2026 Feb 25. doi: 10.1146/annurev-genom-111124-032550. Online ahead of print. Annu Rev Genomics Hum Genet. 2026. PMID: 41740029 Review.

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Genetic Bases of Arthrogryposis Multiplex Congenita.

Melki J. Melki J. Annu Rev Genomics Hum Genet. 2026 Feb 24. doi: 10.1146/annurev-genom-120324-031410. Online ahead of print. Annu Rev Genomics Hum Genet. 2026. PMID: 41729706 Review.

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A Personal Retrospective on the US Department of Energy Contribution to the Human Genome Project.

Patrinos AAN. Patrinos AAN. Annu Rev Genomics Hum Genet. 2026 Jan 13. doi: 10.1146/annurev-genom-050725-011420. Online ahead of print. Annu Rev Genomics Hum Genet. 2026. PMID: 41529204 Review.

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Newborn Sequencing: The Promise and Perils.

Ross LF, Ormond KE. Ross LF, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):401-423. doi: 10.1146/annurev-genom-121123-115349. Annu Rev Genomics Hum Genet. 2025. PMID: 41889322 Free article. Review.

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Brain Organoids: Tools for Understanding the Uniqueness and Individual Variability of the Human Brain.

Faravelli I, Antón-Bolaños N, Brown JR, Arlotta P. Faravelli I, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):299-320. doi: 10.1146/annurev-genom-111522-014009. Annu Rev Genomics Hum Genet. 2025. PMID: 40854826 Free article. Review.

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Memories of the Human Genome Project at the Sanger Centre.

Rogers J. Rogers J. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):25-43. doi: 10.1146/annurev-genom-111422-103029. Epub 2025 Jun 4. Annu Rev Genomics Hum Genet. 2025. PMID: 40465635 Free article. Review.

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Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype.

Hall LL, Smith KP, Lawrence JB. Hall LL, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):45-75. doi: 10.1146/annurev-genom-111522-014017. Epub 2025 May 29. Annu Rev Genomics Hum Genet. 2025. PMID: 40440481 Free PMC article. Review.

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Pediatric Cancer Genetics and Genomics.

Mardis ER. Mardis ER. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):279-298. doi: 10.1146/annurev-genom-120823-010156. Epub 2025 May 28. Annu Rev Genomics Hum Genet. 2025. PMID: 40435402 Free article. Review.

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From Tiny Exons to Big Insights: The Expanding Field of Microexons.

Mackensen T, Irimia M. Mackensen T, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):77-102. doi: 10.1146/annurev-genom-121323-103648. Epub 2025 May 20. Annu Rev Genomics Hum Genet. 2025. PMID: 40393474 Free article. Review.

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The Hallmarks of Aneuploidy in Cancer and Congenital Syndromes.

Cheng P, Singh K, Reeves RH, Davoli T. Cheng P, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):103-138. doi: 10.1146/annurev-genom-111723-103557. Epub 2025 May 7. Annu Rev Genomics Hum Genet. 2025. PMID: 40333415 Free PMC article. Review.

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Functional Neurogenomics to Dissect Disease Mechanisms Across Models.

Zheng X, Li J, Jin X. Zheng X, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):189-216. doi: 10.1146/annurev-genom-120823-125811. Epub 2025 May 5. Annu Rev Genomics Hum Genet. 2025. PMID: 40324921 Free PMC article. Review.

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Breast Cancer: Genetic Risk Assessment, Diagnostics, and Therapeutics in African Populations.

Manirakiza AVC, Mutesa L, Mathew CG, Olopade OI. Manirakiza AVC, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):245-259. doi: 10.1146/annurev-genom-111522-013953. Epub 2025 Apr 28. Annu Rev Genomics Hum Genet. 2025. PMID: 40294412 Free article. Review.

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Human Synthetic Biology and Programmable Gene Regulation Control.

Thurm AR, Janer Carattini GL, Bintu L. Thurm AR, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):139-161. doi: 10.1146/annurev-genom-120423-013542. Epub 2025 Apr 25. Annu Rev Genomics Hum Genet. 2025. PMID: 40279643 Free PMC article. Review.

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Copy Number Variants: Deletion and Duplication Syndromes.

Harner MK, Bishop DV, Pollak RM, Purcell RH, Mulle JG. Harner MK, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):261-277. doi: 10.1146/annurev-genom-121222-120601. Epub 2025 Apr 25. Annu Rev Genomics Hum Genet. 2025. PMID: 40279632 Free article. Review.

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The Genomics of Aging at the Single-Cell Scale.

Zhou W, Cao J. Zhou W, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):217-243. doi: 10.1146/annurev-genom-120523-024422. Epub 2025 Apr 25. Annu Rev Genomics Hum Genet. 2025. PMID: 40279573 Free article. Review.

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Indigenous Data Sovereignty in Genomics and Human Genetics: Genomic Equity and Justice for Indigenous Peoples.

Halmai NB, Taitingfong R, Jennings LL, Yracheta J, Garba I, Lund JR, Curley CA, Claw KG, Taualii M, Garrison NA, Carroll SR. Halmai NB, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):375-400. doi: 10.1146/annurev-genom-022024-125543. Epub 2025 Apr 18. Annu Rev Genomics Hum Genet. 2025. PMID: 40249967 Free article. Review.

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Workforce Development in Genomic Data Science for Health: A Worldview.

Lukhele ST, Ras V, Mulder N. Lukhele ST, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):449-471. doi: 10.1146/annurev-genom-012224-122440. Epub 2025 Apr 9. Annu Rev Genomics Hum Genet. 2025. PMID: 40203237 Free article. Review.

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Rethinking the Genomic Diversity Problem: Rejecting Inclusion in Defense of Indigenous Sovereignty.

Kolopenuk J. Kolopenuk J. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):479-487. doi: 10.1146/annurev-genom-022024-010010. Epub 2025 Apr 4. Annu Rev Genomics Hum Genet. 2025. PMID: 40184626 Free article. Review.

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Social and Behavioral Genomics: On the Ethics of the Research and Its Downstream Applications.

Martschenko DO, Lee SS, Meyer MN, Parens E. Martschenko DO, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):425-447. doi: 10.1146/annurev-genom-011224-015733. Epub 2025 Apr 1. Annu Rev Genomics Hum Genet. 2025. PMID: 40169009 Free PMC article. Review.

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Disability, Genetic Counseling, and Medical Education: From Eugenics to Anti-Ableism.

Houtz C, Mueller R. Houtz C, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):351-373. doi: 10.1146/annurev-genom-022024-010951. Epub 2025 Mar 27. Annu Rev Genomics Hum Genet. 2025. PMID: 40146999 Free PMC article. Review.

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Pharmacogenomics in Africa: A Potential Catalyst for Precision Medicine in Genetically Diverse Populations.

Twesigomwe D, Mazhindu TA, Nagy M, Agesa G, Scholefield J, Masimirembwa C. Twesigomwe D, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):321-349. doi: 10.1146/annurev-genom-121323-104008. Epub 2025 Mar 27. Annu Rev Genomics Hum Genet. 2025. PMID: 40146997 Free article. Review.

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Mechanisms of Enhancer-Mediated Gene Activation in the Context of the 3D Genome.

Papantonis A, Oudelaar AM. Papantonis A, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):163-188. doi: 10.1146/annurev-genom-120423-012301. Epub 2025 Mar 3. Annu Rev Genomics Hum Genet. 2025. PMID: 40030157 Free article. Review.

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Inequalities and Inclusion in Genomics Applied to Healthcare: A Latin American Perspective.

Lopes-Cendes I, de Oliveira TC. Lopes-Cendes I, et al. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):473-478. doi: 10.1146/annurev-genom-111224-100329. Epub 2025 Jan 30. Annu Rev Genomics Hum Genet. 2025. PMID: 39883884 Free article. Review.

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How a Medical Student Found Himself in a Human Genome Free for All.

Waterston RH. Waterston RH. Annu Rev Genomics Hum Genet. 2025 Aug;26(1):1-22. doi: 10.1146/annurev-genom-101822-012945. Epub 2025 Jan 29. Annu Rev Genomics Hum Genet. 2025. PMID: 39879557 Free article.

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Clinical and Therapeutic Implications of Clonal Hematopoiesis.

Petrone G, Turker I, Natarajan P, Bolton KL. Petrone G, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):329-351. doi: 10.1146/annurev-genom-120722-100409. Annu Rev Genomics Hum Genet. 2024. PMID: 39190914 Free article. Review.

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The Genetics and Functional Genomics of Osteoarthritis.

Arruda AL, Katsoula G, Chen S, Reimann E, Kreitmaier P, Zeggini E. Arruda AL, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):239-257. doi: 10.1146/annurev-genom-010423-095636. Annu Rev Genomics Hum Genet. 2024. PMID: 39190913 Free article. Review.

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Somatic Gene Therapy: Ethics and Access.

Bateman-House A. Bateman-House A. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):421-438. doi: 10.1146/annurev-genom-021623-104458. Annu Rev Genomics Hum Genet. 2024. PMID: 39190912 Free article. Review.

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The Role of Cilia and the Complex Genetics of Congenital Heart Disease.

Gabriel GC, Ganapathiraju M, Lo CW. Gabriel GC, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):309-327. doi: 10.1146/annurev-genom-121222-105345. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38724024 Free article. Review.

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Toward Realizing the Promise of AI in Precision Health Across the Spectrum of Care.

Wiens J, Spector-Bagdady K, Mukherjee B. Wiens J, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):141-159. doi: 10.1146/annurev-genom-010323-010230. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38724019 Free article. Review.

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Genome-Wide Screening Approaches for Biochemical Reactions Independent of Cell Growth.

Noguchi Y, Matsui R, Suh J, Dou Y, Suzuki J. Noguchi Y, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):51-76. doi: 10.1146/annurev-genom-121222-115958. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38692586 Free article. Review.

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The Genetics of Human Sleep and Sleep Disorders.

Zou X, Ptáček LJ, Fu YH. Zou X, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):259-285. doi: 10.1146/annurev-genom-121222-120306. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38669479 Free article. Review.

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Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References.

Taylor DJ, Eizenga JM, Li Q, Das A, Jenike KM, Kenny EE, Miga KH, Monlong J, McCoy RC, Paten B, Schatz MC. Taylor DJ, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):77-104. doi: 10.1146/annurev-genom-021623-081639. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38663087 Free PMC article. Review.

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Genomic Interactions Between Mycobacterium tuberculosis and Humans.

Palittapongarnpim P, Tantivitayakul P, Aiewsakun P, Mahasirimongkol S, Jaemsai B. Palittapongarnpim P, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):183-209. doi: 10.1146/annurev-genom-021623-101844. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38640230 Free article. Review.

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Integrating Large-Scale Protein Structure Prediction into Human Genetics Research.

Correa Marrero M, Jänes J, Baptista D, Beltrao P. Correa Marrero M, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):123-140. doi: 10.1146/annurev-genom-120622-020615. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38621234 Free article. Review.

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Benefit-Sharing by Design: A Call to Action for Human Genomics Research.

Mc Cartney AM, Scholz AH, Groussin M, Staunton C. Mc Cartney AM, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):369-395. doi: 10.1146/annurev-genom-021623-104241. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38608642 Free article. Review.

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Causes and Consequences of Varying Transposable Element Activity: An Evolutionary Perspective.

Betancourt AJ, Wei KH, Huang Y, Lee YCG. Betancourt AJ, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):1-25. doi: 10.1146/annurev-genom-120822-105708. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38603565 Free PMC article. Review.

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Polygenic Risk Scores Driving Clinical Change in Glaucoma.

Kolovos A, Hassall MM, Siggs OM, Souzeau E, Craig JE. Kolovos A, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):287-308. doi: 10.1146/annurev-genom-121222-105817. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38599222 Free article. Review.

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Deep Learning Sequence Models for Transcriptional Regulation.

Sokolova K, Chen KM, Hao Y, Zhou J, Troyanskaya OG. Sokolova K, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):105-122. doi: 10.1146/annurev-genom-021623-024727. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38594933 Free article. Review.

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Mapping Human Immunity and the Education of Waldeyer's Ring.

Talks BJ, Mather MW, Chahal M, Coates M, Clatworthy MR, Haniffa M. Talks BJ, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):161-182. doi: 10.1146/annurev-genom-120522-012938. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38594932 Free article. Review.

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The Myriad Decision at 10.

Sherkow JS, Cook-Deegan R, Greely HT. Sherkow JS, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):397-419. doi: 10.1146/annurev-genom-010323-011239. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38424474 Free article. Review.

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Population Diversity at the Single-Cell Level.

Gordon MG, Kathail P, Choy B, Kim MC, Mazumder T, Gearing M, Ye CJ. Gordon MG, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):27-49. doi: 10.1146/annurev-genom-021623-083207. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38382493 Free article. Review.

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RNA Sequencing in Disease Diagnosis.

Smail C, Montgomery SB. Smail C, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):353-367. doi: 10.1146/annurev-genom-021623-121812. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38360541 Free PMC article. Review.

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PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments.

Morin GM, Zerbib L, Kaltenbach S, Fraissenon A, Balducci E, Asnafi V, Canaud G. Morin GM, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):211-237. doi: 10.1146/annurev-genom-121222-114518. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38316164 Free article. Review.

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Sickle Cell Disease: From Genetics to Curative Approaches.

Hardouin G, Magrin E, Corsia A, Cavazzana M, Miccio A, Semeraro M. Hardouin G, et al. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:255-275. doi: 10.1146/annurev-genom-120122-081037. Annu Rev Genomics Hum Genet. 2023. PMID: 37624668 Free article. Review.

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The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood.

Jackson D, Moosajee M. Jackson D, et al. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:177-202. doi: 10.1146/annurev-genom-102722-090617. Annu Rev Genomics Hum Genet. 2023. PMID: 37624667 Free article. Review.

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TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature.

Costantini A, Guasto A, Cormier-Daire V. Costantini A, et al. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:225-253. doi: 10.1146/annurev-genom-120922-094107. Annu Rev Genomics Hum Genet. 2023. PMID: 37624666 Free article. Review.

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The SWI/SNF Complex in Neural Crest Cell Development and Disease.

Fountain DM, Sauka-Spengler T. Fountain DM, et al. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:203-223. doi: 10.1146/annurev-genom-011723-082913. Annu Rev Genomics Hum Genet. 2023. PMID: 37624665 Free article. Review.

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DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.

Foreman J, Perrett D, Mazaika E, Hunt SE, Ware JS, Firth HV. Foreman J, et al. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:151-176. doi: 10.1146/annurev-genom-102822-100509. Epub 2023 Jun 7. Annu Rev Genomics Hum Genet. 2023. PMID: 37285546 Free PMC article. Review.

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Federated Analysis for Privacy-Preserving Data Sharing: A Technical and Legal Primer.

Casaletto J, Bernier A, McDougall R, Cline MS. Casaletto J, et al. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:347-368. doi: 10.1146/annurev-genom-110122-084756. Epub 2023 May 30. Annu Rev Genomics Hum Genet. 2023. PMID: 37253596 Free PMC article. Review.

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Methods for Assessing Population Relationships and History Using Genomic Data.

Moorjani P, Hellenthal G. Moorjani P, et al. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:305-332. doi: 10.1146/annurev-genom-111422-025117. Epub 2023 May 23. Annu Rev Genomics Hum Genet. 2023. PMID: 37220313 Free PMC article. Review.

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A Journey from Blood Cells to Genes and Back.

Luzzatto L. Luzzatto L. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:1-33. doi: 10.1146/annurev-genom-101022-105018. Epub 2023 May 22. Annu Rev Genomics Hum Genet. 2023. PMID: 37217201 Free article. Review.

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57

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Methods and Insights from Single-Cell Expression Quantitative Trait Loci.

Kang JB, Raveane A, Nathan A, Soranzo N, Raychaudhuri S. Kang JB, et al. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:277-303. doi: 10.1146/annurev-genom-101422-100437. Epub 2023 May 17. Annu Rev Genomics Hum Genet. 2023. PMID: 37196361 Free PMC article. Review.

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Meiotic Chromosome Structure, the Synaptonemal Complex, and Infertility.

Adams IR, Davies OR. Adams IR, et al. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:35-61. doi: 10.1146/annurev-genom-110122-090239. Epub 2023 May 9. Annu Rev Genomics Hum Genet. 2023. PMID: 37159901 Free article. Review.

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Long-Read DNA Sequencing: Recent Advances and Remaining Challenges.

Warburton PE, Sebra RP. Warburton PE, et al. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:109-132. doi: 10.1146/annurev-genom-101722-103045. Epub 2023 Apr 19. Annu Rev Genomics Hum Genet. 2023. PMID: 37075062 Free article. Review.

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RNA Crossing Membranes: Systems and Mechanisms Contextualizing Extracellular RNA and Cell Surface GlycoRNAs.

Chai P, Lebedenko CG, Flynn RA. Chai P, et al. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:85-107. doi: 10.1146/annurev-genom-101722-101224. Epub 2023 Apr 17. Annu Rev Genomics Hum Genet. 2023. PMID: 37068783 Free article. Review.

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Padlock Probe-Based Targeted In Situ Sequencing: Overview of Methods and Applications.

Magoulopoulou A, Salas SM, Tiklová K, Samuelsson ER, Hilscher MM, Nilsson M. Magoulopoulou A, et al. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:133-150. doi: 10.1146/annurev-genom-102722-092013. Epub 2023 Apr 5. Annu Rev Genomics Hum Genet. 2023. PMID: 37018847 Free article. Review.

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Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal.

Wolf SM, Green RC. Wolf SM, et al. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:393-414. doi: 10.1146/annurev-genom-101122-103209. Epub 2023 Mar 13. Annu Rev Genomics Hum Genet. 2023. PMID: 36913714 Free PMC article. Review.

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The p-Arms of Human Acrocentric Chromosomes Play by a Different Set of Rules.

McStay B. McStay B. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:63-83. doi: 10.1146/annurev-genom-101122-081642. Epub 2023 Feb 28. Annu Rev Genomics Hum Genet. 2023. PMID: 36854315 Free article. Review.

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Open Data in the Era of the GDPR: Lessons from the Human Cell Atlas.

Knoppers BM, Bernier A, Bowers S, Kirby E. Knoppers BM, et al. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:369-391. doi: 10.1146/annurev-genom-101322-113255. Epub 2023 Feb 15. Annu Rev Genomics Hum Genet. 2023. PMID: 36791787 Free article. Review.

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Avoiding Liability and Other Legal Land Mines in the Evolving Genomics Landscape.

Clayton EW, Tritell AM, Thorogood AM. Clayton EW, et al. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:333-346. doi: 10.1146/annurev-genom-100722-021725. Epub 2023 Jan 11. Annu Rev Genomics Hum Genet. 2023. PMID: 36630592 Free article. Review.

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Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

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The Genetics of Human Skin and Hair Pigmentation.

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The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy.

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The Status and Impact of Clinical Tumor Genome Sequencing.

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Cystic Fibrosis Disease Modifiers: Complex Genetics Defines the Phenotypic Diversity in a Monogenic Disease.

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Sickle Cell Anemia and Its Phenotypes.

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From a Single Child to Uniform Newborn Screening: My Lucky Life in Pediatric Medical Genetics.

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Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR Pathways.

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Tailoring Medulloblastoma Treatment Through Genomics: Making a Change, One Subgroup at a Time.

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A Robust Framework for Microbial Archaeology.

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Precisely Where Are We Going? Charting the New Terrain of Precision Prevention.

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On the Evolution of Lactase Persistence in Humans.

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The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability.

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