Molecular Basis of Rett Syndrome and Related Disorders

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Ressler, A. K., Sampaio, G. L. A., Dugger, S. A., Sapir, T., Krizay, D., Boland, M. J., Reiner, O., & Goldstein, D. B. (2023). Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic mice. IScience, 26(1), 105797. https://doi.org/10.1016/j.isci.2022.105797
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González, B. J., Zhao, H., Niu, J., Williams, D. J., Lee, J., Goulbourne, C. N., Xing, Y., Wang, Y., Oberholzer, J., Blumenkrantz, M. H., Chen, X., LeDuc, C. A., Chung, W. K., Colecraft, H. M., Gromada, J., Shen, Y., Goland, R. S., Leibel, R. L., & Egli, D. (2022). Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency. Communications Biology, 5(1). https://doi.org/10.1038/s42003-022-03696-z
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El Chehadeh, S., Han, K. A., Kim, D., Jang, G., Bakhtiari, S., Lim, D., Kim, H. Y., Kim, J., Kim, H., Wynn, J., Chung, W. K., Vitiello, G., Cutcutache, I., Page, M., Gecz, J., Harper, K., Han, A., Kim, H. M., Wessels, M., … Um, J. W. (2022). SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice. Nature Communications, 13(1). https://doi.org/10.1038/s41467-022-31566-z
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Platzer, K., Sticht, H., Bupp, C., Ganapathi, M., Pereira, E. M., Le Guyader, G., Bilan, F., Henderson, L. B., Lemke, J. R., Taschenberger, H., Brose, N., Abou Jamra, R., & Wojcik, S. M. (2022). De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission. Annals of Neurology, 92(6), 958–973. Portico. https://doi.org/10.1002/ana.26485
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Cheng, F., Zheng, W., Barbuti, P. A., Bonsi, P., Liu, C., Casadei, N., Ponterio, G., Meringolo, M., Admard, J., Dording, C. M., Yu-Taeger, L., Nguyen, H. P., Grundmann-Hauser, K., Ott, T., Houlden, H., Pisani, A., Krüger, R., & Riess, O. (2022). DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family. Brain, 145(11), 3968–3984. https://doi.org/10.1093/brain/awac001
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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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Lahti, J., Tuominen, S., Yang, Q., Pergola, G., Ahmad, S., Amin, N., Armstrong, N. J., Beiser, A., Bey, K., Bis, J. C., Boerwinkle, E., Bressler, J., Campbell, A., Campbell, H., Chen, Q., Corley, J., Cox, S. R., Davies, G., De Jager, P. L., … Räikkönen, K. (2022). Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning. Molecular Psychiatry, 27(11), 4419–4431. https://doi.org/10.1038/s41380-022-01710-8
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Kayumi, S., Pérez-Jurado, L. A., Palomares, M., Rangu, S., Sheppard, S. E., Chung, W. K., Kruer, M. C., Kharbanda, M., Amor, D. J., McGillivray, G., Cohen, J. S., García-Miñaúr, S., van Eyk, C. L., Harper, K., Jolly, L. A., Webber, D. L., Barnett, C. P., Santos-Simarro, F., Pacio-Míguez, M., … Corbett, M. A. (2022). Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genetics in Medicine, 24(11), 2351–2366. https://doi.org/10.1016/j.gim.2022.08.006
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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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Küry, S., Zhang, J., Besnard, T., Caro-Llopis, A., Zeng, X., Robert, S. M., Josiah, S. S., Kiziltug, E., Denommé-Pichon, A.-S., Cogné, B., Kundishora, A. J., Hao, L. T., Li, H., Stevenson, R. E., Louie, R. J., Deb, W., Torti, E., Vignard, V., McWalter, K., … Isidor, B. (2022). Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genetics in Medicine, 24(9), 1941–1951. https://doi.org/10.1016/j.gim.2022.05.009
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Zhou, X., Feliciano, P., Shu, C., Wang, T., Astrovskaya, I., Hall, J. B., Obiajulu, J. U., Wright, J. R., Murali, S. C., Xu, S. X., Brueggeman, L., Thomas, T. R., Marchenko, O., Fleisch, C., Barns, S. D., Snyder, L. G., Han, B., Chang, T. S., Turner, T. N., … Chung, W. K. (2022). Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nature Genetics, 54(9), 1305–1319. https://doi.org/10.1038/s41588-022-01148-2
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Singhal, S. K., Byun, J. S., Yan, T., Yancey, R., Caban, A., Gil Hernandez, S., Bufford, S., Hewitt, S. M., Winfield, J., Pradhan, J., Mustkov, V., McDonald, J. A., Pérez-Stable, E. J., Nápoles, A. M., Vohra, N., De Siervi, A., Yates, C., Davis, M. B., Yang, M., … Gardner, K. (2022). Protein expression of the gp78 E3 ligase predicts poor breast cancer outcome based on race. JCI Insight, 7(13). https://doi.org/10.1172/jci.insight.157465
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Miceli, F., Millevert, C., Soldovieri, M. V., Mosca, I., Ambrosino, P., Carotenuto, L., Schrader, D., Lee, H. K., Riviello, J., Hong, W., Risen, S., Emrick, L., Amin, H., Ville, D., Edery, P., de Bellescize, J., Michaud, V., Van-Gils, J., Goizet, C., … Weckhuysen, S. (2022). KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. EBioMedicine, 81, 104130. https://doi.org/10.1016/j.ebiom.2022.104130
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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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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
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Singh, H. N., Swarup, V., Dubey, N. K., Jha, N. K., Singh, A. K., Lo, W.-C., & Kumar, S. (2022). Differential Transcriptome Profiling Unveils Novel Deregulated Gene Signatures Involved in Pathogenesis of Alzheimer’s Disease. Biomedicines, 10(3), 611. https://doi.org/10.3390/biomedicines10030611
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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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Juneja, P., & Swor, D. (2022). An Evidence-Based Approach to Diagnosis and Prognosis in a Young Woman with New-Onset Super-Refractory Status Epilepticus: A Case Report. Case Reports in Neurology, 14(1), 5–11. Portico. https://doi.org/10.1159/000519947
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Kreienkamp, H.-J., Wagner, M., Weigand, H., McConkie-Rossell, A., McDonald, M., Keren, B., Mignot, C., Gauthier, J., Soucy, J.-F., Michaud, J. L., Dumas, M., Smith, R., Löbel, U., Hempel, M., Kubisch, C., Denecke, J., Campeau, P. M., Bain, J. M., & Lessel, D. (2021). Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males. Human Genetics, 141(2), 257–272. https://doi.org/10.1007/s00439-021-02412-x
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Thomas-Wilson, A., Dharmadhikari, A. V., Heymann, J. J., Jobanputra, V., DiMauro, S., Hirano, M., Naini, A. B., & Ganapathi, M. (2022). Whole Exome Sequencing detects PYGM variants in two adults with McArdle disease. Molecular Case Studies, mcs.a006173. https://doi.org/10.1101/mcs.a006173
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Nagy, D., Verheyen, S., Wigby, K. M., Borovikov, A., Sharkov, A., Slegesky, V., Larson, A., Fagerberg, C., Brasch-Andersen, C., Kibæk, M., Bader, I., Hernan, R., High, F. A., Chung, W. K., Schieving, J. H., Behunova, J., Smogavec, M., Laccone, F., Witsch-Baumgartner, M., … Weis, D. (2022). Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. Genes, 13(1), 154. https://doi.org/10.3390/genes13010154
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Berry-Kravis, E., Filipink, R. A., Frye, R. E., Golla, S., Morris, S. M., Andrews, H., Choo, T.-H., & Kaufmann, W. E. (2021). Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort. Frontiers in Pediatrics, 9. https://doi.org/10.3389/fped.2021.736255
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Zoghbi, A. W., Dhindsa, R. S., Goldberg, T. E., Mehralizade, A., Motelow, J. E., Wang, X., Alkelai, A., Harms, M. B., Lieberman, J. A., Markx, S., & Goldstein, D. B. (2021). High-impact rare genetic variants in severe schizophrenia. Proceedings of the National Academy of Sciences, 118(51). https://doi.org/10.1073/pnas.2112560118
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Griswold, A. J., Rajabli, F., Garcia‐Serje, C., Hamilton‐Nelson, K. L., Adams, L. D., Tejada, S., Mena, P. R., Starks, T. D., Whitehead, P. L., Silva‐Vergara, C., Cuccaro, M. L., Martinez, I., Illanes‐Manrique, M., Cornejo‐Olivas, M. R., Laux, R. A., Caywood, L. J., Reitz, C., Beecham, G. W., Byrd, G. S., … Pericak‐Vance, M. A. (2021). Assessment of AD‐related plasma biomarkers in diverse ancestral populations. Alzheimer’s & Dementia, 17(S5). Portico. https://doi.org/10.1002/alz.056258
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Weerts, M. J. A., Lanko, K., Guzmán-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londoño, K. J., Peña-Guerra, K. A., van Bever, Y., van Paassen, B. W., Kievit, A., van Slegtenhorst, M., Allen, N. M., Kehoe, C. M., Robinson, H. K., Pang, L., Banu, S. H., Zaman, M., Efthymiou, S., Houlden, H., … Barakat, T. S. (2021). Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genetics in Medicine, 23(11), 2122–2137. https://doi.org/10.1038/s41436-021-01246-2
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Davis, E. J., Solsberg, C. W., White, C. C., Miñones-Moyano, E., Sirota, M., Chibnik, L., Bennett, D. A., De Jager, P. L., Yokoyama, J. S., & Dubal, D. B. (2021). Sex-Specific Association of the X Chromosome With Cognitive Change and Tau Pathology in Aging and Alzheimer Disease. JAMA Neurology, 78(10), 1249. https://doi.org/10.1001/jamaneurol.2021.2806
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