Intellectual Disability

Displaying 1 - 34 of 34CSV
Havdahl, A., Farmer, C., Surén, P., Øyen, A., Magnus, P., Susser, E., Lipkin, W. I., Reichborn‐Kjennerud, T., Stoltenberg, C., Bishop, S., & Thurm, A. (2023). Attainment and loss of early social‐communication skills across neurodevelopmental conditions in the Norwegian Mother, Father and Child Cohort Study. Journal of Child Psychology and Psychiatry, 65(5), 610–619. Portico. https://doi.org/10.1111/jcpp.13792
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Jutla, A., Harvey, L., Veenstra‐VanderWeele, J., & Chung, W. K. (2024). Motor difficulties in 16p11.2 copy number variation. Autism Research, 17(5), 906–916. Portico. https://doi.org/10.1002/aur.3132
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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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Pan, X., Tao, A. M., Lu, S., Ma, M., Hannan, S. B., Slaugh, R., Drewes Williams, S., O’Grady, L., Kanca, O., Person, R., Carter, M. T., Platzer, K., Schnabel, F., Abou Jamra, R., Roberts, A. E., Newburger, J. W., Revah-Politi, A., Granadillo, J. L., Stegmann, A. P. A., … Bellen, H. J. (2024). De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. The American Journal of Human Genetics, 111(4), 742–760. https://doi.org/10.1016/j.ajhg.2024.02.007
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Goldstein, J., Thomas-Wilson, A., Groopman, E., Aggarwal, V., Bianconi, S., Fernandez, R., Hart, K., Longo, N., Liang, N., Reich, D., Wallis, H., Weaver, M., Young, S., & Mercimek-Andrews, S. (2024). ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. Molecular Genetics and Metabolism, 142(1), 108362. https://doi.org/10.1016/j.ymgme.2024.108362
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Kassabian, B., Levy, A. M., Gardella, E., Aledo‐Serrano, A., Ananth, A. L., Brea‐Fernández, A. J., Caumes, R., Chatron, N., Dainelli, A., De Wachter, M., Denommé‐Pichon, A., Dye, T. J., Fazzi, E., Felt, R., Fernández‐Jaén, A., Fernández‐Prieto, M., Gantz, E., Gasperowicz, P., Gil‐Nagel, A., … Rubboli, G. (2024). Developmental epileptic encephalopathy in DLG4‐related synaptopathy. Epilepsia, 65(4), 1029–1045. Portico. https://doi.org/10.1111/epi.17876
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Kanner, C. H., Uher, D., Zreibe, K., Beard, G., Patterson, M., Harris, M., Doerger, J., Calamia, S., Chung, W. K., & Montes, J. (2024). Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder. Orphanet Journal of Rare Diseases, 19(1). https://doi.org/10.1186/s13023-024-03067-3
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Adams, A. D., Lin, J., Bianchi, D. W., Bishop, L., Sato, T., Baxter, L. L., Hoffmann, V., Koehly, L., & Guedj, F. (2024). Embryonic statistical analyses reveal 2 growth phenotypes in mouse models of Down syndrome. American Journal of Obstetrics and Gynecology, 230(2), 258.e1-258.e11. https://doi.org/10.1016/j.ajog.2023.07.056
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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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Klitzman, R., Bezborodko, E., Chung, W. K., & Appelbaum, P. S. (2023). Parents’ views of benefits and limitations of receiving genetic diagnoses for their offspring. Child: Care, Health and Development, 50(1). Portico. https://doi.org/10.1111/cch.13212
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Sudnawa, K. K., Calamia, S., Geltzeiler, A., & Chung, W. K. (2023). Clinical phenotypes of individuals with Chung–Jansen syndrome across age groups. American Journal of Medical Genetics Part A, 194(3). Portico. https://doi.org/10.1002/ajmg.a.63471
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Bosch, E., Popp, B., Güse, E., Skinner, C., van der Sluijs, P. J., Maystadt, I., Pinto, A. M., Renieri, A., Bruno, L. P., Granata, S., Marcelis, C., Baysal, Ö., Hartwich, D., Holthöfer, L., Isidor, B., Cogne, B., Wieczorek, D., Capra, V., Scala, M., … Vasileiou, G. (2023). Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genetics in Medicine, 25(11), 100950. https://doi.org/10.1016/j.gim.2023.100950
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Jungels, A., Demers, L., Ford, E., Stevens, B. K., Sabatello, M., & Dasgupta, S. (2023). Project Inclusive Genetics: Protecting reproductive autonomy from bias via prenatal patient-centered counseling. Human Genetics and Genomics Advances, 4(4), 100228. https://doi.org/10.1016/j.xhgg.2023.100228
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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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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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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
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Niggl, E., Bouman, A., Briere, L. C., Hoogenboezem, R. M., Wallaard, I., Park, J., Admard, J., Wilke, M., Harris-Mostert, E. D. R. O., Elgersma, M., Bain, J., Balasubramanian, M., Banka, S., Benke, P. J., Bertrand, M., Blesson, A. E., Clayton-Smith, J., Ellingford, J. M., Gillentine, M. A., … Zuchner, S. (2023). HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110(8), 1414–1435. https://doi.org/10.1016/j.ajhg.2023.07.005
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Schmid, C. M., Gregor, A., Costain, G., Morel, C. F., Massingham, L., Schwab, J., Quélin, C., Faoucher, M., Kaplan, J., Procopio, R., Saunders, C. J., Cohen, A. S. A., Lemire, G., Sacharow, S., O’Donnell-Luria, A., Segal, R. J., Kianmahd Shamshoni, J., Schweitzer, D., Ebrahimi-Fakhari, D., … Zweier, C. (2023). LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genetics in Medicine, 25(7), 100839. https://doi.org/10.1016/j.gim.2023.100839
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Cerulli Irelli, E., Cocchi, E., Ramantani, G., Morano, A., Riva, A., Caraballo, R. H., Giuliano, L., Yilmaz, T., Panagiotakaki, E., Operto, F. F., Giraldez, B. G., Balestrini, S., Silvennoinen, K., Casciato, S., Comajuan, M., Fortunato, F., Giallonardo, A. T., Gamirova, R., … Coppola, A. (2023). Sex‐based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia. Epilepsia, 64(6). Portico. https://doi.org/10.1111/epi.17609
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Oyama, N., Vaneynde, P., Reynhout, S., Pao, E. M., Timms, A., Fan, X., Foss, K., Derua, R., Janssens, V., Chung, W., & Mirzaa, G. M. (2022). Clinical, neuroimaging and molecular characteristics ofPPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis. Journal of Medical Genetics, 60(5), 511–522. https://doi.org/10.1136/jmg-2022-108713
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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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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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Riggs, E. R., Bingaman, T. I., Barry, C.-A., Behlmann, A., Bluske, K., Bostwick, B., Bright, A., Chen, C.-A., Clause, A. R., Dharmadhikari, A. V., Ganapathi, M., Gonzaga-Jauregui, C., Grant, A. R., Hughes, M. Y., Kim, S. R., Krause, A., Liao, J., Lumaka, A., Mah, M., … Schaaf, C. P. (2022). Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels. Genetics in Medicine, 24(9), 1899–1908. https://doi.org/10.1016/j.gim.2022.05.001
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van der Sluijs, P. J., Joosten, M., Alby, C., Attié-Bitach, T., Gilmore, K., Dubourg, C., Fradin, M., Wang, T., Kurtz-Nelson, E. C., Ahlers, K. P., Arts, P., Barnett, C. P., Ashfaq, M., Baban, A., van den Born, M., Borrie, S., Busa, T., Byrne, A., Carriero, M., … Santen, G. W. E. (2022). Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. Genetics in Medicine, 24(8), 1753–1760. https://doi.org/10.1016/j.gim.2022.04.010
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Sapir, T., Kshirsagar, A., Gorelik, A., Olender, T., Porat, Z., Scheffer, I. E., Goldstein, D. B., Devinsky, O., & Reiner, O. (2022). Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex. Nature Communications, 13(1). https://doi.org/10.1038/s41467-022-31752-z
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Columbia Affiliation
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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Lines, M. A., Goldenberg, P., Wong, A., Srivastava, S., Bayat, A., Hove, H., Karstensen, H. G., Anyane‐Yeboa, K., Liao, J., Jiang, N., May, A., Guzman, E., Morleo, M., D’Arrigo, S., Ciaccio, C., Pantaleoni, C., Castello, R., McKee, S., … Dyment, D. A. (2022). Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia. American Journal of Medical Genetics Part A, 188(6), 1667–1675. Portico. https://doi.org/10.1002/ajmg.a.62673
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Castaldelli-Maia, J. M., & Bhugra, D. (2022). Analysis of global prevalence of mental and substance use disorders within countries: focus on sociodemographic characteristics and income levels. International Review of Psychiatry, 34(1), 6–15. https://doi.org/10.1080/09540261.2022.2040450
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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
Lu, S., Hernan, R., Marcogliese, P. C., Huang, Y., Gertler, T. S., Akcaboy, M., Liu, S., Chung, H., Pan, X., Sun, X., Oguz, M. M., Oztoprak, U., de Baaij, J. H. F., Ivanisevic, J., McGinnis, E., Guillen Sacoto, M. J., Chung, W. K., & Bellen, H. J. (2022). Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures. The American Journal of Human Genetics, 109(4), 571–586. https://doi.org/10.1016/j.ajhg.2022.01.020
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Ritter, A. L., Gold, J., Hayashi, H., Ackermann, A. M., Hanke, S., Skraban, C., Cuddapah, S., Bhoj, E., Li, D., Kuroda, Y., Wen, J., Takeda, R., Bibb, A., El Chehadeh, S., Piton, A., Ohl, J., Kukolich, M. K., Nagasaki, K., Kato, K., … Izumi, K. (2022). Expanding the phenotypic spectrum of ARCN1-related syndrome. Genetics in Medicine, 24(6), 1227–1237. https://doi.org/10.1016/j.gim.2022.02.005
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Columbia Affiliation
Hickman, R. A., O’Shea, S. A., Mehler, M. F., & Chung, W. K. (2022). Neurogenetic disorders across the lifespan: from aberrant development to degeneration. Nature Reviews Neurology, 18(2), 117–124. https://doi.org/10.1038/s41582-021-00595-5
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