Center for Statistical Genetics

Displaying 1 - 41 of 41CSV
Sattar, S., Bharadwaj, T., Kalsoom, U.-, Acharya, A., Khan, S., Leal, S. M., & Schrauwen, I. (2025). A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa. BMC Medical Genomics, 18(1). https://doi.org/10.1186/s12920-024-02077-1
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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
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Bharadwaj, T., Acharya, A., Khan, F. U., Khan, S., Ullah, I., Schrauwen, I., Ahmad, W., & Leal, S. M. (2024). THBS1 is a new autosomal recessive non-syndromic hearing impairment gene. BMC Medical Genomics, 17(1). https://doi.org/10.1186/s12920-024-02060-w
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Yalcouyé, A., Schrauwen, I., Traoré, O., Bamba, S., Aboagye, E. T., Acharya, A., Bharadwaj, T., Latanich, R., Esoh, K., Fortes-Lima, C. A., de Kock, C., Jonas, M., Maiga, A. dit B., Cissé, C. A. K., Sangaré, M. A., Guinto, C. O., Landouré, G., Leal, S. M., & Wonkam, A. (2025). Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali. Human Genetics and Genomics Advances, 6(1), 100391. https://doi.org/10.1016/j.xhgg.2024.100391
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Schrauwen, I., Rajendran, Y., Acharya, A., Öhman, S., Arvio, M., Paetau, R., Siren, A., Avela, K., Granvik, J., Leal, S. M., Määttä, T., Kokkonen, H., & Järvelä, I. (2024). Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-024-62009-y
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Salokivi, T., Parkkola, R., Rajendran, Y., Bharadwaj, T., Acharya, A., Leal, S. M., Järvelä, I., Arvio, M., & Schrauwen, I. (2023). A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria. American Journal of Medical Genetics Part A, 194(4). Portico. https://doi.org/10.1002/ajmg.a.63478
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Cho, Y., Guadarrama-Sanz, M., Molina, I., Eideh, A., & Berg, E. (2024). Optimal Predictors of General Small Area Parameters Under an Informative Sample Design Using Parametric Sample Distribution Models. Journal of Survey Statistics and Methodology, 12(5), 1430–1463. https://doi.org/10.1093/jssam/smae007
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Nawaz, S., Hussain, S., Bilal, M., Syed, N., Liaqat, K., Ullah, I., Akil, A. A., Fakhro, K. A., & Ahmad, W. (2023). A variant in sperm‐specific glycolytic enzyme enolase 4 (ENO4) causes human male infertility. The Journal of Gene Medicine, 26(1). Portico. https://doi.org/10.1002/jgm.3583
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Somerville, C., Erkut, E., Schwartz, M., Chen, X., Manshaei, R., Ding, Q., Diderich, K., Herzig, L., Dingmann, B., Quelin, C., Pingault, V., Dubourg, C., Salgado, J. R., Sousa, S., Koboldt, D., Gosselin, R., McBride, K., Arvio, M., Järvelä, I., … Jobling, R. (2024). O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects. Genetics in Medicine Open, 2, 101469. https://doi.org/10.1016/j.gimo.2024.101469
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Järvelä, I., Paetau, R., Rajendran, Y., Acharya, A., Bharadwaj, T., Leal, S. M., Lehesjoki, A.-E., Palomäki, M., & Schrauwen, I. (2024). Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort. Brain Communications, 6(3). https://doi.org/10.1093/braincomms/fcae142
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Naderi, E., Aguado-Barrera, M. E., Schack, L. M. H., Dorling, L., Rattay, T., Fachal, L., Summersgill, H., Martínez-Calvo, L., Welsh, C., Dudding, T., Odding, Y., Varela-Pazos, A., Jena, R., Thomson, D. J., Steenbakkers, R. J. H. M., Dennis, J., Lobato-Busto, R., Alsner, J., … Ness, A. (2023). Large-scale meta–genome-wide association study reveals common genetic factors linked to radiation-induced acute toxicities across cancer types. JNCI Cancer Spectrum, 7(6). https://doi.org/10.1093/jncics/pkad088
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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
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Tedesco Silva, L. M., Sharma, S., Schrauwen, I., Margolesky, J., & Detyniecki, K. (2022). A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia. The Cerebellum, 22(5), 1029–1033. https://doi.org/10.1007/s12311-022-01458-5
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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
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Sandhu, A., Naderi, E., Wijninga, M., Liemburg, E., Cath, D., Bruggeman, R., & Alizadeh, B. (2023). Pharmacogenetics of Long-Term Outcomes of Schizophrenia Spectrum Disorders: The Functional Role of CYP2D6 and CYP2C19. Journal of Personalized Medicine, 13(9), 1354. https://doi.org/10.3390/jpm13091354
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Chen, Z., Wang, S., He, Z., Tegegne, B. S., van Roon, A. M., Holtjer, J. C. S., van der Harst, P., Snieder, H., & Thio, C. H. L. (2023). Observational and genetic evidence support a relationship between cardiac autonomic function and blood pressure. Frontiers in Cardiovascular Medicine, 10. https://doi.org/10.3389/fcvm.2023.1187275
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DeWan, A. T., Cahill, M. E., Cornejo-Sanchez, D. M., Li, Y., Dong, Z., Fabiha, T., Sun, H., Wang, G., & Leal, S. M. (2023). Variants in JAZF1 are associated with asthma, type 2 diabetes, and height in the United Kingdom biobank population. Frontiers in Genetics, 14. https://doi.org/10.3389/fgene.2023.1129389
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Faridi, R., Yousaf, R., Gu, S., Inagaki, S., Turriff, A. E., Pelstring, K., Guan, B., Naik, A., Griffith, A. J., Adadey, S. M., Aboagye, E. T., Awandare, G. A., Morell, R. J., Tsilou, E., Noyes, A. G., Sulmonte, L. A. G., Wonkam, A., Schrauwen, I., Leal, S. M., … Friedman, T. B. (2023). Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clinical Genetics, 103(6), 699–703. Portico. https://doi.org/10.1111/cge.14312
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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
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Bilal, M., Haack, T. B., Buchert, R., Peralta, S., Uddin, N., Ali, R. H., Liaqat, K., & Ahmad, W. (2023). Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly. Molecular Syndromology, 14(3), 201–207. Portico. https://doi.org/10.1159/000528651
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Frankel, E., Podder, A., Sharifi, M., Pillai, R., Belnap, N., Ramsey, K., Dodson, J., Venugopal, P., Brzezinski, M., Llaci, L., Gerald, B., Mills, G., Sanchez-Castillo, M., Balak, C. D., Szelinger, S., Jepsen, W. M., Siniard, A. L., Richholt, R., Naymik, M., … Rangasamy, S. (2023). Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders. Cells, 12(10), 1437. https://doi.org/10.3390/cells12101437
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Hussain, A., Acharya, A., Bharadwaj, T., Genomics, U. O. W. C. F. M., Leal, S. M., Khaliq, A., Mir, A., & Schrauwen, I. (2023). A Novel Variant in VPS13B Underlying Cohen Syndrome. BioMed Research International, 2023(1). Portico. https://doi.org/10.1155/2023/9993801
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Schrauwen, I., Ghaffar, A., Bharadwaj, T., Shah, K., Rehman, S., Acharya, A., Liaqat, K., Lin, N. S., Everard, J. L., Khan, A., Ahmed, Z. M., Ahmad, W., Riazuddin, S., & Leal, S. M. (2022). Syntaxin 4 is essential for hearing in human and zebrafish. Human Molecular Genetics, 32(7), 1184–1192. https://doi.org/10.1093/hmg/ddac257
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Teng, Y., Sandhu, A., Liemburg, E. J., Naderi, E., & Alizadeh, B. Z. (2023). The Progress and Pitfalls of Pharmacogenetics-Based Precision Medicine in Schizophrenia Spectrum Disorders: A Systematic Review and Meta-Analysis. Journal of Personalized Medicine, 13(3), 471. https://doi.org/10.3390/jpm13030471
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Naderi, E., Cornejo-Sanchez, D. M., Li, G., Schrauwen, I., Wang, G. T., Dewan, A. T., & Leal, S. M. (2023). The genetic contribution of the X chromosome in age-related hearing loss. Frontiers in Genetics, 14. https://doi.org/10.3389/fgene.2023.1106328
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Xie, Z., Sun, C., Liu, C., Xie, Z., Wei, L., Yu, J., Ling, C., Guo, X., Liu, Y., Yu, M., Leng, Y., Meng, L., Sun, Y., Deng, J., Leal, S. M., Schrauwen, I., Wang, Z., & Yuan, Y. (2022). Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants. Journal of Neurology, 270(2), 925–937. https://doi.org/10.1007/s00415-022-11432-0
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Tavernier, L. J. M., Vanpoucke, T., Schrauwen, I., Van Camp, G., & Fransen, E. (2022). Targeted Resequencing of Otosclerosis Patients from Different Populations Replicates Results from a Previous Genome-Wide Association Study. Journal of Clinical Medicine, 11(23), 6978. https://doi.org/10.3390/jcm11236978
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Adadey, S. M., Aboagye, E. T., Esoh, K., Acharya, A., Bharadwaj, T., Lin, N. S., Amenga-Etego, L., Awandare, G. A., Schrauwen, I., Leal, S. M., & Wonkam, A. (2022). A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana. BMC Medical Genomics, 15(1). https://doi.org/10.1186/s12920-022-01391-w
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Wonkam, A., Adadey, S. M., Schrauwen, I., Aboagye, E. T., Wonkam-Tingang, E., Esoh, K., Popel, K., Manyisa, N., Jonas, M., deKock, C., Nembaware, V., Cornejo Sanchez, D. M., Bharadwaj, T., Nasir, A., Everard, J. L., Kadlubowska, M. K., Nouel-Saied, L. M., Acharya, A., Quaye, O., … Leal, S. M. (2022). Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes. Communications Biology, 5(1). https://doi.org/10.1038/s42003-022-03326-8
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Clark, L. N., Gao, Y., Wang, G. T., Hernandez, N., Ashley-Koch, A., Jankovic, J., Ottman, R., Leal, S. M., Rodriguez, S. M. B., & Louis, E. D. (2022). Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology. EBioMedicine, 85, 104290. https://doi.org/10.1016/j.ebiom.2022.104290
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Hussain, S., Nawaz, S., Khan, H., Acharya, A., Schrauwen, I., Ahmad, W., & Leal, S. M. (2022). A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV. Annals of Human Genetics, 86(6), 291–296. Portico. https://doi.org/10.1111/ahg.12462
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Acharya, A., Kavus, H., Dunn, P., Nasir, A., Folk, L., Withrow, K., Wentzensen, I. M., Ruzhnikov, M. R. Z., Fallot, C., Smol, T., Rama, M., Brown, K., Whalen, S., Ziegler, A., Barth, M., Chassevent, A., Smith-Hicks, C., Afenjar, A., Courtin, T., … Schrauwen, I. (2021). Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. Journal of Medical Genetics, 59(7), 669–677. https://doi.org/10.1136/jmedgenet-2021-107871
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Yalcouyé, A., Traoré, O., Diarra, S., Schrauwen, I., Esoh, K., Kadlubowska, M. K., Bharadwaj, T., Adadey, S. M., Kéita, M., Guinto, C. O., Leal, S. M., Landouré, G., & Wonkam, A. (2022). A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family. Molecular Genetics & Genomic Medicine, 10(7). Portico. https://doi.org/10.1002/mgg3.1995
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Cornejo-Sanchez, D. M., Acharya, A., Bharadwaj, T., Marin-Gomez, L., Pereira-Gomez, P., Nouel-Saied, L. M., Nickerson, D. A., Bamshad, M. J., Mefford, H. C., Schrauwen, I., Carrizosa-Moog, J., Cornejo-Ochoa, W., Pineda-Trujillo, N., & Leal, S. M. (2022). SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families. Genes, 13(5), 754. https://doi.org/10.3390/genes13050754
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Liaqat, K., Hussain, S., Acharya, A., Nasir, A., Bharadwaj, T., Ansar, M., Basit, S., Schrauwen, I., Ahmad, W., & Leal, S. M. (2022). Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family. Genes, 13(4), 662. https://doi.org/10.3390/genes13040662
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Højland, A. T., Tavernier, L. J. M., Schrauwen, I., Sommen, M., Topsakal, V., Schatteman, I., Dhooge, I., Huber, A., Zanetti, D., Kunst, H. P. M., Hoischen, A., Petersen, M. B., Van Camp, G., & Fransen, E. (2021). A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis. Human Genetics, 141(3–4), 951–963. https://doi.org/10.1007/s00439-021-02334-8
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Bharadwaj, T., Schrauwen, I., Acharya, A., Nouel‐Saied, L. M., Väisänen, M., Kraatari, M., Rahikkala, E., Jarvela, I., Kotimäki, J., & Leal, S. M. (2022). Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. Molecular Genetics & Genomic Medicine, 10(3). Portico. https://doi.org/10.1002/mgg3.1866
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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
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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
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