Yang, Z., Wang, C., Posadas-Garcia, Y. S., Añorve-Garibay, V., Vardarajan, B., Estrada, A. M., Sohail, M., Mayeux, R., & Ionita-Laza, I. (2025). Fine-mapping in admixed populations using CARMA-X, with applications to Latin American studies. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2025.02.020

Thomas, H. B., Demain, L. A. M., Cabrera-Orefice, A., Schrauwen, I., Shamseldin, H. E., Rea, A., Bharadwaj, T., Smith, T. B., Oláhová, M., Thompson, K., He, L., Kaur, N., Shukla, A., Abukhalid, M., Ansar, M., Rehman, S., Riazuddin, S., Abdulwahab, F., Smith, J. M., … Newman, W. G. (2025). Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2025.02.005

Kars, M. E., Stein, D., Stenson, P. D., Cooper, D. N., Chung, W. K., Gruber, P. J., Seidman, C. E., Shen, Y., Tristani-Firouzi, M., Gelb, B. D., & Itan, Y. (2025). Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2025.01.024

Szenker-Ravi, E., Ott, T., Yusof, A., Chopra, M., Khatoo, M., Pak, B., Xuan Goh, W., Beckers, A., Brady, A. F., Ewans, L. J., Djaziri, N., Almontashiri, N. A. M., Alghamdi, M. A., Alharby, E., Dasouki, M., Romo, L., Tan, W.-H., Maddirevula, S., Alkuraya, F. S., … Reversade, B. (2025). CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2024.12.006

Lessel, I., Baresic, A., Chinn, I. K., May, J., Goenka, A., Chandler, K. E., Posey, J. E., Afenjar, A., Averdunk, L., Bedeschi, M. F., Besnard, T., Brager, R., Brick, L., Brugger, M., Brunet, T., Byrne, S., Calle-Martín, O. de la, Capra, V., Cardenas, P., … Lessel, D. (2025). DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2024.12.012

Ma, S., Wang, F., Border, R., Buxbaum, J., Zaitlen, N., & Ionita-Laza, I. (2024). Local genetic correlation via knockoffs reduces confounding due to cross-trait assortative mating. The American Journal of Human Genetics, 111(12), 2839–2848. https://doi.org/10.1016/j.ajhg.2024.10.012

Ramos, M. A., Bonini, K. E., Scarimbolo, L., Kelly, N. R., Insel, B., Suckiel, S. A., Brown, K., Di Biase, M., Gallagher, K. M., Lopez, J., Aguiñiga, K. L., Marathe, P. N., Maria, E., Odgis, J. A., Rodriguez, J. E., Rodriguez, M. A., Ruiz, N., Sebastin, M., Yelton, N. M., … Horowitz, C. R. (2024). Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research. The American Journal of Human Genetics, 111(12), 2607–2617. https://doi.org/10.1016/j.ajhg.2024.10.015

Qiao, L., Welch, C. L., Hernan, R., Wynn, J., Krishnan, U. S., Zalieckas, J. M., Buchmiller, T., Khlevner, J., De, A., Farkouh-Karoleski, C., Wagner, A. J., Heydweiller, A., Mueller, A. C., de Klein, A., Warner, B. W., Maj, C., Chung, D., McCulley, D. J., Schindel, D., … Chung, W. K. (2024). Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants. The American Journal of Human Genetics, 111(11), 2362–2381. https://doi.org/10.1016/j.ajhg.2024.08.024

Ellis, C. A., Oliver, K. L., Harris, R. V., Ottman, R., Scheffer, I. E., Mefford, H. C., Epstein, M. P., Berkovic, S. F., & Bahlo, M. (2024). Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias. The American Journal of Human Genetics, 111(9), 1805–1809. https://doi.org/10.1016/j.ajhg.2024.07.014

Manzoni, C., Kia, D. A., Ferrari, R., Leonenko, G., Costa, B., Saba, V., Jabbari, E., Tan, M. MX., Albani, D., Alvarez, V., Alvarez, I., Andreassen, O. A., Angiolillo, A., Arighi, A., Baker, M., Benussi, L., Bessi, V., Binetti, G., Blackburn, D. J., … Escott-Price, V. (2024). Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia. The American Journal of Human Genetics, 111(7), 1316–1329. https://doi.org/10.1016/j.ajhg.2024.05.017

Yang, Y., Wang, Q., Wang, C., Buxbaum, J., & Ionita-Laza, I. (2024). KnockoffHybrid: A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies. The American Journal of Human Genetics, 111(7), 1448–1461. https://doi.org/10.1016/j.ajhg.2024.05.003

Xu, Z. M., Gnouamozi, G. E., Rüeger, S., Shea, P. R., Buti, M., Chan, H. LY., Marcellin, P., Lawless, D., Naret, O., Zeller, M., Schneuing, A., Scheck, A., Junier, T., Moradpour, D., Podlaha, O., Suri, V., Gaggar, A., Subramanian, M., Correia, B., … Fellay, J. (2024). Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation. The American Journal of Human Genetics, 111(6), 1018–1034. https://doi.org/10.1016/j.ajhg.2024.04.013

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

Mullegama, S. V., Kiernan, K. A., Torti, E., Pavlovsky, E., Tilton, N., Sekula, A., Gao, H., Alaimo, J. T., Engleman, K., Rush, E. T., Blocker, K., Dipple, K. M., Fettig, V. M., Hare, H., Glass, I., Grange, D. K., Griffin, M., Phornphutkul, C., Massingham, L., … Yang, J. (2024). De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features. The American Journal of Human Genetics, 111(4), 778–790. https://doi.org/10.1016/j.ajhg.2024.02.016

Pan, X., Tao, A. M., Lu, S., Ma, M., Hannan, S. B., Slaugh, R., Drewes Williams, S., O’Grady, L., Kanca, O., Person, R., Carter, M. T., Platzer, K., Schnabel, F., Abou Jamra, R., Roberts, A. E., Newburger, J. W., Revah-Politi, A., Granadillo, J. L., Stegmann, A. P. A., … Bellen, H. J. (2024). De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. The American Journal of Human Genetics, 111(4), 742–760. https://doi.org/10.1016/j.ajhg.2024.02.007

Kasela, S., Aguet, F., Kim-Hellmuth, S., Brown, B. C., Nachun, D. C., Tracy, R. P., Durda, P., Liu, Y., Taylor, K. D., Johnson, W. C., Van Den Berg, D., Gabriel, S., Gupta, N., Smith, J. D., Blackwell, T. W., Rotter, J. I., Ardlie, K. G., Manichaikul, A., Rich, S. S., … Lappalainen, T. (2024). Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects. The American Journal of Human Genetics, 111(1), 133–149. https://doi.org/10.1016/j.ajhg.2023.11.013

Lowther, C., Valkanas, E., Giordano, J. L., Wang, H. Z., Currall, B. B., O’Keefe, K., Pierce-Hoffman, E., Kurtas, N. E., Whelan, C. W., Hao, S. P., Weisburd, B., Jalili, V., Fu, J., Wong, I., Collins, R. L., Zhao, X., Austin-Tse, C. A., Evangelista, E., Lemire, G., … Talkowski, M. E. (2023). Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. The American Journal of Human Genetics, 110(9), 1454–1469. https://doi.org/10.1016/j.ajhg.2023.07.010

Niggl, E., Bouman, A., Briere, L. C., Hoogenboezem, R. M., Wallaard, I., Park, J., Admard, J., Wilke, M., Harris-Mostert, E. D. R. O., Elgersma, M., Bain, J., Balasubramanian, M., Banka, S., Benke, P. J., Bertrand, M., Blesson, A. E., Clayton-Smith, J., Ellingford, J. M., Gillentine, M. A., … Zuchner, S. (2023). HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110(8), 1414–1435. https://doi.org/10.1016/j.ajhg.2023.07.005

Calame, D. G., Guo, T., Wang, C., Garrett, L., Jolly, A., Dawood, M., Kurolap, A., Henig, N. Z., Fatih, J. M., Herman, I., Du, H., Mitani, T., Becker, L., Rathkolb, B., Gerlini, R., Seisenberger, C., Marschall, S., Hunter, J. V., Gerard, A., … Lupski, J. R. (2023). Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. The American Journal of Human Genetics, 110(8), 1394–1413. https://doi.org/10.1016/j.ajhg.2023.06.013

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

Yang, Y., Wang, C., Liu, L., Buxbaum, J., He, Z., & Ionita-Laza, I. (2022). KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design. The American Journal of Human Genetics, 109(10), 1761–1776. https://doi.org/10.1016/j.ajhg.2022.08.013

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

Liu, C., Ta, C. N., Havrilla, J. M., Nestor, J. G., Spotnitz, M. E., Geneslaw, A. S., Hu, Y., Chung, W. K., Wang, K., & Weng, C. (2022). OARD: Open annotations for rare diseases and their phenotypes based on real-world data. The American Journal of Human Genetics, 109(9), 1591–1604. https://doi.org/10.1016/j.ajhg.2022.08.002

Ramdas, S., Judd, J., Graham, S. E., Kanoni, S., Wang, Y., Surakka, I., Wenz, B., Clarke, S. L., Chesi, A., Wells, A., Bhatti, K. F., Vedantam, S., Winkler, T. W., Locke, A. E., Marouli, E., Zajac, G. J. M., Wu, K.-H. H., Ntalla, I., Hui, Q., … Brown, C. D. (2022). A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. The American Journal of Human Genetics, 109(8), 1366–1387. https://doi.org/10.1016/j.ajhg.2022.06.012

Ziegler, A., Steindl, K., Hanner, A. S., Kar, R. K., Prouteau, C., Boland, A., Deleuze, J. F., Coubes, C., Bézieau, S., Küry, S., Maystadt, I., Le Mao, M., Lenaers, G., Navet, B., Faivre, L., Tran Mau-Them, F., Zanoni, P., Chung, W. K., Rauch, A., … Park, M. H. (2022). Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder. The American Journal of Human Genetics, 109(8), 1549–1558. https://doi.org/10.1016/j.ajhg.2022.06.010

Appelbaum, P. S., Burke, W., Parens, E., Zeevi, D. A., Arbour, L., Garrison, N. A., Bonham, V. L., & Chung, W. K. (2022). Is there a way to reduce the inequity in variant interpretation on the basis of ancestry? The American Journal of Human Genetics, 109(6), 981–988. https://doi.org/10.1016/j.ajhg.2022.04.012

Willcox, J. A. L., Geiger, J. T., Morton, S. U., McKean, D., Quiat, D., Gorham, J. M., Tai, A. C., DePalma, S., Bernstein, D., Brueckner, M., Chung, W. K., Giardini, A., Goldmuntz, E., Kaltman, J. R., Kim, R., Newburger, J. W., Shen, Y., Srivastava, D., Tristani-Firouzi, M., … Seidman, C. E. (2022). Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk. The American Journal of Human Genetics, 109(5), 961–966. https://doi.org/10.1016/j.ajhg.2022.03.011

Hu, X., Qiao, D., Kim, W., Moll, M., Balte, P. P., Lange, L. A., Bartz, T. M., Kumar, R., Li, X., Yu, B., Cade, B. E., Laurie, C. A., Sofer, T., Ruczinski, I., Nickerson, D. A., Muzny, D. M., Metcalf, G. A., Doddapaneni, H., Gabriel, S., … Manichaikul, A. (2022). Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program. The American Journal of Human Genetics, 109(5), 857–870. https://doi.org/10.1016/j.ajhg.2022.03.007

Lu, S., Hernan, R., Marcogliese, P. C., Huang, Y., Gertler, T. S., Akcaboy, M., Liu, S., Chung, H., Pan, X., Sun, X., Oguz, M. M., Oztoprak, U., de Baaij, J. H. F., Ivanisevic, J., McGinnis, E., Guillen Sacoto, M. J., Chung, W. K., & Bellen, H. J. (2022). Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures. The American Journal of Human Genetics, 109(4), 571–586. https://doi.org/10.1016/j.ajhg.2022.01.020

Stephenson, S. E. M., Costain, G., Blok, L. E. R., Silk, M. A., Nguyen, T. B., Dong, X., Alhuzaimi, D. E., Dowling, J. J., Walker, S., Amburgey, K., Hayeems, R. Z., Rodan, L. H., Schwartz, M. A., Picker, J., Lynch, S. A., Gupta, A., Rasmussen, K. J., Schimmenti, L. A., Klee, E. W., … Tan, T. Y. (2022). Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. The American Journal of Human Genetics, 109(4), 601–617. https://doi.org/10.1016/j.ajhg.2022.03.002

Li, X., Yung, G., Zhou, H., Sun, R., Li, Z., Hou, K., Zhang, M. J., Liu, Y., Arapoglou, T., Wang, C., Ionita-Laza, I., & Lin, X. (2022). A multi-dimensional integrative scoring framework for predicting functional variants in the human genome. The American Journal of Human Genetics, 109(3), 446–456. https://doi.org/10.1016/j.ajhg.2022.01.017

Guerrini, C. J., Robinson, J. O., Bloss, C. C., Bash Brooks, W., Fullerton, S. M., Kirkpatrick, B., Lee, S. S.-J., Majumder, M., Pereira, S., Schuman, O., & McGuire, A. L. (2022). Family secrets: Experiences and outcomes of participating in direct-to-consumer genetic relative-finder services. The American Journal of Human Genetics, 109(3), 486–497. https://doi.org/10.1016/j.ajhg.2022.01.013

Ware, S. M., Bhatnagar, S., Dexheimer, P. J., Wilkinson, J. D., Sridhar, A., Fan, X., Shen, Y., Tariq, M., Schubert, J. A., Colan, S. D., Shi, L., Canter, C. E., Hsu, D. T., Bansal, N., Webber, S. A., Everitt, M. D., Kantor, P. F., Rossano, J. W., Pahl, E., … Lipshultz, S. E. (2022). The genetic architecture of pediatric cardiomyopathy. The American Journal of Human Genetics, 109(2), 282–298. https://doi.org/10.1016/j.ajhg.2021.12.006

Küry, S., Ebstein, F., Mollé, A., Besnard, T., Lee, M.-K., Vignard, V., Hery, T., Nizon, M., Mancini, G. M. S., Giltay, J. C., Cogné, B., McWalter, K., Deb, W., Mor-Shaked, H., Li, H., Schnur, R. E., Wentzensen, I. M., Denommé-Pichon, A.-S., Fourgeux, C., … Isidor, B. (2022). Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder. The American Journal of Human Genetics, 109(2), 361–372. https://doi.org/10.1016/j.ajhg.2021.12.011

Yap, Z. Y., Efthymiou, S., Seiffert, S., Vargas Parra, K., Lee, S., Nasca, A., Maroofian, R., Schrauwen, I., Pendziwiat, M., Jung, S., Bhoj, E., Striano, P., Mankad, K., Vona, B., Cuddapah, S., Wagner, A., Alvi, J. R., Davoudi-Dehaghani, E., Fallah, M.-S., … Yoon, W. H. (2021). Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. The American Journal of Human Genetics, 108(12), 2368–2384. https://doi.org/10.1016/j.ajhg.2021.11.003

He, Z., Le Guen, Y., Liu, L., Lee, J., Ma, S., Yang, A. C., Liu, X., Rutledge, J., Losada, P. M., Song, B., Belloy, M. E., Butler, R. R., Longo, F. M., Tang, H., Mormino, E. C., Wyss-Coray, T., Greicius, M. D., & Ionita-Laza, I. (2021). Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics. The American Journal of Human Genetics, 108(12), 2336–2353. https://doi.org/10.1016/j.ajhg.2021.10.009

Brown, B. C., & Knowles, D. A. (2021). Welch-weighted Egger regression reduces false positives due to correlated pleiotropy in Mendelian randomization. The American Journal of Human Genetics, 108(12), 2319–2335. https://doi.org/10.1016/j.ajhg.2021.10.006