Microcephaly

Displaying 1 - 10 of 10CSV
Kaiyrzhanov, R., Rad, A., Lin, S.-J., Bertoli-Avella, A., Kallemeijn, W. W., Godwin, A., Zaki, M. S., Huang, K., Lau, T., Petree, C., Efthymiou, S., Karimiani, E. G., Hempel, M., Normand, E. A., Rudnik-Schöneborn, S., Schatz, U. A., Baggelaar, M. P., Ilyas, M., Sultan, T., … Maroofian, R. (2023). Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain, 147(4), 1436–1456. https://doi.org/10.1093/brain/awad380
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Sudnawa, K. K., Garber, A., Cohen, R., Calamia, S., Kanner, C. H., Montes, J., Bain, J. M., Fee, R. J., & Chung, W. K. (2024). Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder. Clinical Genetics, 105(5), 523–532. Portico. https://doi.org/10.1111/cge.14487
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de Sainte Agathe, J.-M., Pode-Shakked, B., Naudion, S., Michaud, V., Arveiler, B., Fergelot, P., Delmas, J., Keren, B., Poirsier, C., Alkuraya, F. S., Tabarki, B., Bend, E., Davis, K., Bebin, M., Thompson, M. L., Bryant, E. M., Wagner, M., Hannibal, I., Lenberg, J., … Trimouille, A. (2023). ARF1-related disorder: phenotypic and molecular spectrum. Journal of Medical Genetics, 60(10), 999–1005. https://doi.org/10.1136/jmg-2022-108803
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Olson, D., Lamb, M. M., Connery, A. K., Colbert, A. M., Calvimontes, D. M., Bauer, D., Paniagua-Avila, M. A., Martínez, M. A., Arroyave, P., Hernandez, S., Colborn, K. L., Roell, Y., Waggoner, J. J., Natrajan, M. S., Anderson, E. J., Bolaños, G. A., El Sahly, H. M., Munoz, F. M., & Asturias, E. J. (2023). Cumulative Febrile, Respiratory, and Gastrointestinal Illness Among Infants in Rural Guatemala and Association With Neurodevelopmental and Growth Outcomes. Pediatric Infectious Disease Journal, 42(9), 739–744. https://doi.org/10.1097/inf.0000000000004006
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Thomas‐Wilson, A., Schacht, J. P., Chitayat, D., Blaser, S., Santos, F. J. R., Glaser, K., Caffo, A., Wentzensen, I. M., Henderson, L. B., Zhang, F., Zhu, Y., Di Corleto, E., da Silva Costa, F., Vink, R., Alkhunaizi, E., Russell, L., Buckley, M. F., Roscioli, T., Pereira, E. M., & Ganapathi, M. (2023). Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review. American Journal of Medical Genetics Part A, 191(7), 1935–1941. Portico. https://doi.org/10.1002/ajmg.a.63203
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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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Brar, B. K., Thompson, M. G., Vora, N. L., Gilmore, K., Blakemore, K., Miller, K. A., Giordano, J., Dufke, A., Wong, B., Stover, S., Lianoglou, B., Van den Veyver, I., Dempsey, E., Rosner, M., Chong, K., Chitayat, D., Sparks, T. N., Norton, M. E., … Wapner, R. (2022). Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series. Prenatal Diagnosis, 42(13), 1686–1693. Portico. https://doi.org/10.1002/pd.6269
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Fenster, R., Ziegler, A., Kentros, C., Geltzeiler, A., Green Snyder, L., Brooks, E., & Chung, W. K. (2022). Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures. American Journal of Medical Genetics Part A, 188(7), 1954–1963. Portico. https://doi.org/10.1002/ajmg.a.62721
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Almannai, M., Marafi, D., Abdel‐Salam, G. M. H., Zaki, M. S., Duan, R., Calame, D., Herman, I., Levesque, F., Elbendary, H. M., Hegazy, I., Chung, W. K., Kavus, H., Saeidi, K., Maroofian, R., AlHashim, A., Al‐Otaibi, A., Al Madhi, A., Abou Al‐Seood, H. M., Alasmari, A., … El‐Hattab, A. W. (2022). El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clinical Genetics, 101(5–6), 530–540. Portico. https://doi.org/10.1111/cge.14132
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Barish, S., Senturk, M., Schoch, K., Minogue, A. L., Lopergolo, D., Fallerini, C., Harland, J., Seemann, J. H., Stong, N., Kranz, P. G., Kansagra, S., Mikati, M. A., Jasien, J., El-Dairi, M., Galluzzi, P., Acosta, M. T., Adam, M., Adams, D. R., … Bellen, H. J. (2022). The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder. Human Molecular Genetics, 31(17), 2934–2950. https://doi.org/10.1093/hmg/ddac085
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Columbia Affiliation