Cornejo-Sanchez, D. M., Bharadwaj, T., Dong, R., Wang, G. T., Schrauwen, I., DeWan, A. T., & Leal, S. M. (2025). Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis. European Journal of Human Genetics. https://doi.org/10.1038/s41431-025-01789-x

Schincariol-Manhe, B., Campagnolo, É., Spineli-Silva, S., de Leeuw, N., Correia-Costa, G. R., Pessoa, A., de Souza, C. F. M., Stevens, C., Javaher, P., Scallet, H. F., Mohr, J., Biskup, S., Herkert, J. C., Pfundt, R., Mehta, L., Rekab, A., Elloumi, H. Z., Sanyoura, M., Maciel-Guerra, A. T., … Vieira, T. P. (2024). Novel variants in the SOX11 gene: clinical description of seven new patients. European Journal of Human Genetics, 32(12), 1640–1646. https://doi.org/10.1038/s41431-024-01695-8

Urpa, L., Kurki, M. I., Rahikkala, E., Hämäläinen, E., Salomaa, V., Suvisaari, J., Keski-Filppula, R., Rauhala, M., Korpi-Heikkilä, S., Komulainen-Ebrahim, J., Helander, H., Vieira, P., Uusimaa, J., Moilanen, J. S., Körkkö, J., Singh, T., Kuismin, O., Pietiläinen, O., Palotie, A., & Daly, M. J. (2024). Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability. European Journal of Human Genetics, 32(5), 576–583. https://doi.org/10.1038/s41431-024-01581-3

Malik, M. A., Saqib, M. A. N., Mientjes, E., Acharya, A., Alam, M. R., Wallaard, I., Schrauwen, I., Bamshad, M. J., Santos-Cortez, R. L. P., Elgersma, Y., Leal, S. M., & Ansar, M. (2023). A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome. European Journal of Human Genetics, 31(12), 1447–1454. https://doi.org/10.1038/s41431-023-01475-w

Ganapathi, M., Matsuoka, L. S., March, M., Li, D., Brokamp, E., Benito-Sanz, S., White, S. M., Lachlan, K., Ahimaz, P., Sewda, A., Bastarache, L., Thomas-Wilson, A., Stoler, J. M., Bramswig, N. C., Baptista, J., Stals, K., Demurger, F., Cogne, B., … Isidor, B. (2023). Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. European Journal of Human Genetics, 31(10), 1117–1124. https://doi.org/10.1038/s41431-023-01434-5

Bilal, M., Khan, H., Khan, M. J., Haack, T. B., Buchert, R., Liaqat, K., Ullah, K., Ahmed, S., Bharadwaj, T., Acharya, A., Peralta, S., Najumuddin, Ali, H., Hasni, M. S., Schrauwen, I., Ullah, A., Ahmad, W., & Leal, S. M. (2023). Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly. European Journal of Human Genetics, 31(11), 1270–1274. https://doi.org/10.1038/s41431-023-01450-5

Cornejo-Sanchez, D. M., Li, G., Fabiha, T., Wang, R., Acharya, A., Everard, J. L., Kadlubowska, M. K., Huang, Y., Schrauwen, I., Wang, G. T., DeWan, A. T., & Leal, S. M. (2023). Rare-variant association analysis reveals known and new age-related hearing loss genes. European Journal of Human Genetics, 31(6), 638–647. https://doi.org/10.1038/s41431-023-01302-2

Lim, T. Y., Verbitsky, M., & Sanna-Cherchi, S. (2023). ParseCNV2: a versatile and integrated tool for copy number variation association studies. European Journal of Human Genetics, 31(3), 275–277. https://doi.org/10.1038/s41431-022-01280-x

Cullen, M. B. R., Meiser, B., Barlow-Stewart, K., Green, M., Appelbaum, P. S., Carr, V. J., Cairns, M. J., Lebowitz, M. S., & Kaur, R. (2022). Perceptions of causal attribution and attitudes to genetic testing among people with schizophrenia and their first-degree relatives. European Journal of Human Genetics, 30(10), 1147–1154. https://doi.org/10.1038/s41431-022-01116-8

Dareng, E. O., Tyrer, J. P., Barnes, D. R., Jones, M. R., Yang, X., Aben, K. K. H., Adank, M. A., Agata, S., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Aravantinos, G., Arun, B. K., Augustinsson, A., Balmaña, J., Bandera, E. V., Barkardottir, R. B., Barrowdale, D., Beckmann, M. W., … Pharoah, P. D. P. (2022). Polygenic risk modeling for prediction of epithelial ovarian cancer risk. European Journal of Human Genetics, 30(3), 349–362. https://doi.org/10.1038/s41431-021-00987-7

Bharadwaj, T., Schrauwen, I., Rehman, S., Liaqat, K., Acharya, A., Giese, A. P. J., Nouel-Saied, L. M., Nasir, A., Everard, J. L., Pollock, L. M., Zhu, S., Bamshad, M. J., Nickerson, D. A., Ali, R. H., Ullah, A., Wali, A., Ali, G., Santos-Cortez, R. L. P., Ahmed, Z. M., … Leal, S. M. (2021). ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. European Journal of Human Genetics, 30(1), 22–33. https://doi.org/10.1038/s41431-021-00913-x

Adeyemo, A., Faridi, R., Chattaraj, P., Yousaf, R., Tona, R., Okorie, S., Bharadwaj, T., Nouel-Saied, L. M., Acharya, A., Schrauwen, I., Morell, R. J., Leal, S. M., Friedman, T. B., Griffith, A. J., & Roux, I. (2021). Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European Journal of Human Genetics, 30(1), 42–52. https://doi.org/10.1038/s41431-021-00984-w