Clinical Genetics
Displaying 1 - 9 of 9
Sudnawa, K. K., Pini, N., Li, W., Kanner, C. H., Ryu, J., Calamia, S., Bain, J. M., Goldman, S., Montes, J., Shen, Y., & Chung, W. K. (2024). Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D‐related neurodevelopmental disorder. Clinical Genetics. Portico. https://doi.org/10.1111/cge.14612
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Columbia Affiliation
Furia, F., Levy, A. M., Theunis, M., Bamshad, M. J., Bartos, M. N., Bijlsma, E. K., Brancati, F., Cejudo, L., Chong, J. X., De Luca, C., Dean, S. J., Egense, A., Goel, H., Guenzel, A. J., Hüffmeier, U., Legius, E., Mancini, G. M. S., Marcos‐Alcalde, I., Niclass, T., … Tümer, Z. (2024). The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants. Clinical Genetics. Portico. https://doi.org/10.1111/cge.14587
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Columbia Affiliation
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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Columbia Affiliation
Levy, A. M., Ganapathi, M., Chung, W. K., & Tümer, Z. (2023). A deep intronic DLG4 variant resulting in DLG4‐related synaptopathy. Clinical Genetics, 105(1), 77–80. Portico. https://doi.org/10.1111/cge.14411
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Columbia Affiliation
Sullivan, J. A., Spillmann, R. C., Schoch, K., Walley, N., Alkelai, A., Stong, N., Shea, P. R., Petrovski, S., Jobanputra, V., McConkie‐Rosell, A., & Shashi, V. (2023). The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic. Clinical Genetics, 105(1), 62–71. Portico. https://doi.org/10.1111/cge.14437
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Columbia Affiliation
Bonini, K. E., Thomas‐Wilson, A., Marathe, P. N., Sebastin, M., Odgis, J. A., Di Biase, M., Kelly, N. R., Ramos, M. A., Insel, B. J., Scarimbolo, L., Rehman, A. U., Guha, S., Okur, V., Abhyankar, A., Phadke, S., Nava, C., Gallagher, K. M., Elkhoury, L., Edelmann, L., … Jobanputra, V. (2023). Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program. Clinical Genetics, 104(2), 210–225. Portico. https://doi.org/10.1111/cge.14365
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Columbia Affiliation
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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Columbia Affiliation
Lipman, A. R., Fan, X., Shen, Y., & Chung, W. K. (2022). Clinical and genetic characterization of CACNA1A‐related disease. Clinical Genetics, 102(4), 288–295. Portico. https://doi.org/10.1111/cge.14180
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Columbia Affiliation
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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Columbia Affiliation