Chao, A. E., Krishna Murthy, S. B., & Sabatello, M. (2025). Views of judges and potential jurors on responsibility for behavior in tort litigation in the genomic era. Journal of Law and the Biosciences, 12(1). https://doi.org/10.1093/jlb/lsaf005

Cocchi, E., Pini, R., Gallipoli, A., Stella, M., Antonazzo, P., Marchetti, F., & Agnoletti, V. (2025). Impact of general vs. neuraxial anesthesia on neonatal outcomes in non-elective cesarean sections. Frontiers in Pediatrics, 13. https://doi.org/10.3389/fped.2025.1518456

Zanoni, F., Marasa, M., Carlassara, L., Verbitsky, M., Khan, A., Wang, C., Bundy, J. D., Canetta, P. A., Bomback, A. S., Parsa, A., Feldman, H. I., Gharavi, A. G., & Kiryluk, K. (2025). Family History in the Context of CKD. Journal of the American Society of Nephrology. https://doi.org/10.1681/asn.0000000653

Matthews, L. J., Martschenko, D. O., V, C. L., & Sabatello, M. (2025). Intersectionality in a Sociogenomic World: How do Race, Disability, Socioeconomic Status, and Polygenic Prediction Interact to Impact Perceptions of Educational Trajectories? Genetics in Medicine, 101368. https://doi.org/10.1016/j.gim.2025.101368

Cassalia, F., Danese, A., Cocchi, E., Vaienti, S., Bolzon, A., Franceschin, L., Mazzetto, R., Caroppo, F., Melandri, D., & Belloni Fortina, A. (2025). Congenital Dermatofibrosarcoma Protuberans—An Update on the Ongoing Diagnostic Challenges. Cancers, 17(1), 158. https://doi.org/10.3390/cancers17010158

Metpally, R. P., Vishweswaraiah, S., Krishnamurthy, S., Saiyed, N., Stahl, R. C., Golden, A., Denisenko, A., Staples, J., Gonzaga-Jauregui, C., Carey, D. J., Bechara, F., Jemec, G. B. E., Williams, H., & Radhakrishna, U. (2024). Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals. Dermatology, 1–11. Portico. https://doi.org/10.1159/000540359

Fernandez, H. E., Lipton, M., Balderes, O., Lin, F., Marasa, M., Milo Rasouly, H., & Sabatello, M. (2024). Pediatric nephrologists’ perspectives and clinical practices related to genetic testing and education. Pediatric Nephrology. https://doi.org/10.1007/s00467-024-06539-7

Russo, F., Chatterjee, D., DeMaria, N., Florido, M. E., Marasa, M., Sabatello, M., Wynn, J., & Milo Rasouly, H. (2024). Negative results from DNA-based population screening for adult-onset diseases: the recipients’ experience. Journal of Community Genetics. https://doi.org/10.1007/s12687-024-00736-5

Cerulli Irelli, E., Cocchi, E., Gesche, J., Peña‐Ceballos, J., Caraballo, R. H., Lattanzi, S., Strigaro, G., Orlando, B., Moloney, P. B., Catania, C., Ferlazzo, E., Pascarella, A., Casciato, S., Pizzanelli, C., Milano, C., Giuliano, L., Viola, V., Mostacci, B., Fortunato, F., … Di Bonaventura, C. (2024). Lamotrigine vs levetiracetam in female patients of childbearing age with juvenile absence epilepsy: A Bayesian reanalysis. Epilepsia. Portico. https://doi.org/10.1111/epi.18087

Beaton, M., Jiang, X., Minto, E., Lau, C. Y., Turner, L., Hripcsak, G., Chaudhari, K., & Natarajan, K. (2024). Using patient portals for large-scale recruitment of individuals underrepresented in biomedical research: an evaluation of engagement patterns throughout the patient portal recruitment process at a single site within the All of Us Research Program. Journal of the American Medical Informatics Association. https://doi.org/10.1093/jamia/ocae135

Krishna Murthy, S. B., Yang, S., Bheda, S., Tomar, N., Li, H., Yaghoobi, A., Khan, A., Kiryluk, K., Motelow, J. E., Ren, N., Gharavi, A. G., & Milo Rasouly, H. (2024). Assisting the analysis of insertions and deletions using regional allele frequencies. Functional & Integrative Genomics, 24(3). https://doi.org/10.1007/s10142-024-01358-3

Cassalia, F., Danese, A., Cocchi, E., Danese, E., Ambrogio, F., Cazzato, G., Mazza, M., Zambello, A., Belloni Fortina, A., & Melandri, D. (2024). Misdiagnosis and Clinical Insights into Acral Amelanotic Melanoma—A Systematic Review. Journal of Personalized Medicine, 14(5), 518. https://doi.org/10.3390/jpm14050518

Lewis, A. C. F., Chisholm, R. L., Connolly, J. J., Esplin, E. D., Glessner, J., Gordon, A., Green, R. C., Hakonarson, H., Harr, M., Holm, I. A., Jarvik, G. P., Karlson, E., Kenny, E. E., Kottyan, L., Lennon, N., Linder, J. E., Luo, Y., Martin, L. J., Perez, E., … Fullerton, S. M. (2024). Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network. The American Journal of Human Genetics, 111(6), 999–1005. https://doi.org/10.1016/j.ajhg.2024.04.005

Madden, E. B., Hindorff, L. A., Bonham, V. L., Akintobi, T. H., Burchard, E. G., Baker, K. E., Begay, R. L., Carpten, J. D., Cox, N. J., Di Francesco, V., Dillard, D. A., Fletcher, F. E., Fullerton, S. M., Garrison, N. A., Hammack-Aviran, C. M., Hiratsuka, V. Y., Hildreth, J. E. K., Horowitz, C. R., Hughes Halbert, C. A., … Green, E. D. (2024). Advancing genomics to improve health equity. Nature Genetics, 56(5), 752–757. https://doi.org/10.1038/s41588-024-01711-z

Cerulli Irelli, E., Cocchi, E., Morano, A., Gesche, J., Caraballo, R. H., Lattanzi, S., Strigaro, G., Rosati, E., Catania, C., Ferlazzo, E., Casciato, S., Di Gennaro, G., Pizzanelli, C., Giuliano, L., Viola, V., Mostacci, B., Pignatta, P., Fortunato, F., … Pulitano, P. (2024). Predictors of Seizure Recurrence in Women With Idiopathic Generalized Epilepsy Who Switch From Valproate to Another Medication. Neurology, 102(9). https://doi.org/10.1212/wnl.0000000000209222

Ma, B. M., Elefant, N., Tedesco, M., Bogyo, K., Vena, N., Murthy, S. K., Bheda, S. A., Yang, S., Tomar, N., Zhang, J. Y., Husain, S. A., Mohan, S., Kiryluk, K., Rasouly, H. M., & Gharavi, A. G. (2024). Developing a genetic testing panel for evaluation of morbidities in kidney transplant recipients. Kidney International, 106(1), 115–125. https://doi.org/10.1016/j.kint.2024.02.021

Sabatello, M., Bakken, S., Chung, W. K., Cohn, E., Crew, K. D., Kiryluk, K., Kukafka, R., Weng, C., & Appelbaum, P. S. (2024). Return of polygenic risk scores in research: Stakeholders’ views on the eMERGE-IV study. Human Genetics and Genomics Advances, 5(2), 100281. https://doi.org/10.1016/j.xhgg.2024.100281

Cerulli Irelli, E., Cocchi, E., Mostacci, B., Orlando, B., Gesche, J., Caraballo, R. H., Lattanzi, S., Strigaro, G., Catania, C., Pulitano, P., Panzini, C., Ferlazzo, E., Pascarella, A., Casciato, S., Pizzanelli, C., Giuliano, L., Viola, V., Fortunato, F., … Di Gennaro, G. (2024). Topiramate ban in women of childbearing potential with idiopathic generalized epilepsy: Does effectiveness offset the teratogenic risks? Epilepsia, 65(3). Portico. https://doi.org/10.1111/epi.17892

Casillan, A., Florido, M. E., Galarza-Cornejo, J., Bakken, S., Lynch, J. A., Chung, W. K., Mittendorf, K. F., Berner, E. S., Connolly, J. J., Weng, C., Holm, I. A., Khan, A., Kiryluk, K., Limdi, N. A., Petukhova, L., Sabatello, M., & Wynn, J. (2023). Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study. Journal of the American Medical Informatics Association, 31(2), 306–316. https://doi.org/10.1093/jamia/ocad207

Green, S., Prainsack, B., & Sabatello, M. (2023). The Roots of (in)Equity in Precision Medicine: Gaps in the Discourse. Personalized Medicine, 21(1), 5–9. https://doi.org/10.2217/pme-2023-0097

Kong, X.-F., Bogyo, K., Kapoor, S., Shea, P. R., Groopman, E. E., Thomas-Wilson, A., Cocchi, E., Milo Rasouly, H., Zheng, B., Sun, S., Zhang, J., Martinez, M., Vittorio, J. M., Dove, L. M., Marasa, M., Wang, T. C., Verna, E. C., Worman, H. J., Gharavi, A. G., … Wattacheril, J. (2023). The diagnostic yield of exome sequencing in liver diseases from a curated gene panel. Scientific Reports, 13(1). https://doi.org/10.1038/s41598-023-42202-1

Moorthy, T., Nguyen, H., Chen, Y., Austin, J., Smoller, J. W., Hercher, L., & Sabatello, M. (2023). How do experts in psychiatric genetics view the clinical utility of polygenic risk scores for schizophrenia? American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 192(7–8), 161–170. Portico. https://doi.org/10.1002/ajmg.b.32939

Cerulli Irelli, E., Cocchi, E., Morano, A., Gesche, J., Caraballo, R. H., Lattanzi, S., Strigaro, G., Catania, C., Ferlazzo, E., Pascarella, A., Casciato, S., Quarato, P., Pizzanelli, C., Pulitano, P., Giuliano, L., Viola, V., Mostacci, B., Fortunato, F., … Marini, C. (2023). Levetiracetam vs Lamotrigine as First-Line Antiseizure Medication in Female Patients With Idiopathic Generalized Epilepsy. JAMA Neurology, 80(11), 1174. https://doi.org/10.1001/jamaneurol.2023.3400

Lewis V, C., Huebner, J., Hripcsak, G., & Sabatello, M. (2023). Underrepresentation of blind and deaf participants in the All of Us Research Program. Nature Medicine, 29(11), 2742–2747. https://doi.org/10.1038/s41591-023-02607-x

Jungels, A., Demers, L., Ford, E., Stevens, B. K., Sabatello, M., & Dasgupta, S. (2023). Project Inclusive Genetics: Protecting reproductive autonomy from bias via prenatal patient-centered counseling. Human Genetics and Genomics Advances, 4(4), 100228. https://doi.org/10.1016/j.xhgg.2023.100228

Martschenko, D. O., Matthews, L. J., & Sabatello, M. (2024). Social and Behavioral Genomics: What Does It Mean for Pediatrics? The Journal of Pediatrics, 264, 113735. https://doi.org/10.1016/j.jpeds.2023.113735

Connolly, J. J., Berner, E. S., Smith, M., Levy, S., Terek, S., Harr, M., Karavite, D., Suckiel, S., Holm, I. A., Dufendach, K., Nelson, C., Khan, A., Chisholm, R. L., Allworth, A., Wei, W.-Q., Bland, H. T., Clayton, E. W., Soper, E. R., Linder, J. E., … Sabatello, M. (2023). Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores. Genetics in Medicine, 25(9), 100906. https://doi.org/10.1016/j.gim.2023.100906

Green, S., Prainsack, B., & Sabatello, M. (2023). Precision medicine and the problem of structural injustice. Medicine, Health Care and Philosophy, 26(3), 433–450. https://doi.org/10.1007/s11019-023-10158-8

Clayton, E. W., Smith, M. E., Anderson, K. C., Chung, W. K., Connolly, J. J., Fullerton, S. M., McGowan, M. L., Peterson, J. F., Prows, C. A., Sabatello, M., & Holm, I. A. (2023). Studying the impact of translational genomic research: Lessons from eMERGE. The American Journal of Human Genetics, 110(7), 1021–1033. https://doi.org/10.1016/j.ajhg.2023.05.011

Cerulli Irelli, E., Cocchi, E., Ramantani, G., Morano, A., Riva, A., Caraballo, R. H., Giuliano, L., Yilmaz, T., Panagiotakaki, E., Operto, F. F., Giraldez, B. G., Balestrini, S., Silvennoinen, K., Casciato, S., Comajuan, M., Fortunato, F., Giallonardo, A. T., Gamirova, R., … Coppola, A. (2023). Sex‐based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia. Epilepsia, 64(6). Portico. https://doi.org/10.1111/epi.17609

McGroder, C. F., Zhang, D., Choudhury, M., Podolanczuk, A. J., Lederer, D., Hoffman, E. A., Saqi, A., Capaccione, K. M., D’Souza, B., Salvatore, M. M., & Garcia, C. K. (2023). Radiographic Lung Abnormalities in First-Degree Relatives of Patients With Different Subtypes of Pulmonary Fibrosis. CHEST, 163(6), 1471–1475. https://doi.org/10.1016/j.chest.2023.01.012

McGroder, C. F., Hansen, S., Hinckley Stukovsky, K., Zhang, D., Nath, P. H., Salvatore, M. M., Sonavane, S. K., Terry, N., Stowell, J. T., D’Souza, B. M., Leb, J. S., Dumeer, S., Aziz, M. U., Batra, K., Hoffman, E. A., Bernstein, E. J., Kim, J. S., Podolanczuk, A. J., Rotter, J. I., … Garcia, C. K. (2023). Incidence of interstitial lung abnormalities: the MESA Lung Study. European Respiratory Journal, 61(6), 2201950. https://doi.org/10.1183/13993003.01950-2022

Thomas, C. P., Daloul, R., Lentine, K. L., Gohh, R., Anand, P. M., Rasouly, H. M., Sharfuddin, A. A., Schlondorff, J. S., Rodig, N. M., Freese, M. E., Garg, N., Lee, B. K., & Caliskan, Y. (2023). Genetic evaluation of living kidney donor candidates: A review and recommendations for best practices. American Journal of Transplantation, 23(5), 597–607. https://doi.org/10.1016/j.ajt.2023.02.020

Kapur, S. L., & Sabatello, M. (2023). People with disability and privacy in precision medicine research: what’s at stake? Trends in Genetics, 39(5), 335–337. https://doi.org/10.1016/j.tig.2023.01.001

Rasouly, H. M., Balderes, O., Marasa, M., Fernandez, H., Lipton, M., Lin, F., Gharavi, A. G., & Sabatello, M. (2023). The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists. Genetics in Medicine, 25(5), 100814. https://doi.org/10.1016/j.gim.2023.100814

Elliott, M. D., Marasa, M., Cocchi, E., Vena, N., Zhang, J. Y., Khan, A., Krishna Murthy, S., Bheda, S., Milo Rasouly, H., Povysil, G., Kiryluk, K., & Gharavi, A. G. (2023). Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes. Journal of the American Society of Nephrology, 34(5), 909–919. https://doi.org/10.1681/asn.0000000000000094

Estrella, E., Rockowitz, S., Thorne, M., Smith, P., Petit, J., Zehnder, V., Yu, R. N., Bauer, S., Berde, C., Agrawal, P. B., Beggs, A. H., Gharavi, A. G., Kunkel, L., & Brownstein, C. A. (2022). Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Advanced Genetics, 4(1). Portico. https://doi.org/10.1002/ggn2.202200013

Elliott, M. D., Rasouly, H. M., & Gharavi, A. G. (2023). Genetics of Kidney Disease: The Unexpected Role of Rare Disorders. Annual Review of Medicine, 74(1), 353–367. https://doi.org/10.1146/annurev-med-042921-101813

Cerulli Irelli, E., Cocchi, E., Ramantani, G., Riva, A., Caraballo, R. H., Morano, A., Giuliano, L., Yilmaz, T., Panagiotakaki, E., Operto, F. F., Giraldez, B. G., Balestrini, S., Silvennoinen, K., Casciato, S., Comajuan, M., Fortunato, F., Giallonardo, A. T., Gamirova, R., … Coppola, A. (2022). Spectrum of epilepsy with eyelid myoclonia: Delineation of disease subtypes from a large multicenter study. Epilepsia, 64(1), 196–207. Portico. https://doi.org/10.1111/epi.17450

Sabatello, M., Martschenko, D. O., Cho, M. K., & Brothers, K. B. (2022). Data sharing and community-engaged research. Science, 378(6616), 141–143. https://doi.org/10.1126/science.abq6851

McDonald, K. E., Schwartz, A. E., & Sabatello, M. (2022). Eligibility criteria in NIH-funded clinical trials: Can adults with intellectual disability get in? Disability and Health Journal, 15(4), 101368. https://doi.org/10.1016/j.dhjo.2022.101368

Bogyo, K., Vena, N., May, H., Rasouly, H. M., Marasa, M., Sanna‐Cherchi, S., Kiryluk, K., Nestor, J., & Gharavi, A. (2022). Incorporating genetics services into adult kidney disease care. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 190(3), 289–301. Portico. https://doi.org/10.1002/ajmg.c.32004

Lemke, A. A., Esplin, E. D., Goldenberg, A. J., Gonzaga-Jauregui, C., Hanchard, N. A., Harris-Wai, J., Ideozu, J. E., Isasi, R., Landstrom, A. P., Prince, A. E. R., Turbitt, E., Sabatello, M., Schrier Vergano, S. A., Taylor, M. R. G., Yu, J.-H., Brothers, K. B., & Garrison, N. A. (2022). Addressing underrepresentation in genomics research through community engagement. The American Journal of Human Genetics, 109(9), 1563–1571. https://doi.org/10.1016/j.ajhg.2022.08.005

Köttgen, A., Cornec-Le Gall, E., Halbritter, J., Kiryluk, K., Mallett, A. J., Parekh, R. S., Rasouly, H. M., Sampson, M. G., Tin, A., Antignac, C., Ars, E., Bergmann, C., Bleyer, A. J., Bockenhauer, D., Devuyst, O., Florez, J. C., Fowler, K. J., Franceschini, N., Fukagawa, M., … Gharavi, A. G. (2022). Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International, 101(6), 1126–1141. https://doi.org/10.1016/j.kint.2022.03.019

Zeng, C., Bastarache, L. A., Tao, R., Venner, E., Hebbring, S., Andujar, J. D., Bland, H. T., Crosslin, D. R., Pratap, S., Cooley, A., Pacheco, J. A., Christensen, K. D., Perez, E., Zawatsky, C. L. B., Witkowski, L., Zouk, H., Weng, C., Leppig, K. A., Sleiman, P. M. A., … Denny, J. C. (2022). Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. JAMA Oncology, 8(6), 835. https://doi.org/10.1001/jamaoncol.2022.0373

Garofalo, D. C., Rosenblum, H. A., Zhang, Y., Chen, Y., Appelbaum, P. S., & Sabatello, M. (2022). Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals. Genetics in Medicine, 24(3), 712–721. https://doi.org/10.1016/j.gim.2021.11.015