Molecular Basis of Rett Syndrome and Related Disorders

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Hodgson, A. K. O., Baxandall, L., Aiyedun, D., Li, A., Au, P. Y. B., Bain, J. M., Gillentine, M. A., Goel, H., Kline, A. D., Ricupero, C. L., Sánchez‐Carpintero, R., Seward, E. P., Sidlow, R., Wilson, S. A., & Balasubramanian, M. (2025). Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review. American Journal of Medical Genetics Part A. Portico. https://doi.org/10.1002/ajmg.a.64013
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Dharmadhikari, A. V., Abad, M. A., Khan, S., Maroofian, R., Sands, T. T., Ullah, F., Samejima, I., Shen, Y., Wear, M. A., Moore, K. E., Kondakova, E., Mitina, N., Schaub, T., Lee, G. K., Umandap, C. H., Berger, S. M., Iglesias, A. D., Popp, B., Abou Jamra, R., … Liao, J. (2025). RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. Nature Communications, 16(1). https://doi.org/10.1038/s41467-025-56876-w
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Caro, D. D., Rodriguez, S., Wetmore, J. B., Godinez, J. D., Camarillo, I. A., Goldman, J., Uhlmann, W. R., McCain, S., Caban, M., Leu, C., Abraido‐Lanza, A. F., Lantigua, R. A., Chung, W. K., Roberts, J. S., Siegel, K., & Ottman, R. (2024). Exploring the Immediate Impact of APOE ε4ε4 Genotype Disclosure among Latinos. Alzheimer’s & Dementia, 20(S1). Portico. https://doi.org/10.1002/alz.086185
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Seto, M., Clifton, M., Coughlan, G. T., Boyle, R., Birkenbihl, C., Wang, T., De Jager, P. L., Schneider, J. A., Sperling, R. A., Wang, Y., Bennett, D. A., Hohman, T. J., Yang, H., Dumitrescu, L. C., & Buckley, R. F. (2024). Genes that escape X chromosome inactivation are associated with Alzheimer’s disease endophenotypes: findings from ROSMAP. Alzheimer’s & Dementia, 20(S1). Portico. https://doi.org/10.1002/alz.090796
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Shani, S., Gana-Weisz, M., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Alcalay, R. N., Orr-Urtreger, A., & Goldstein, O. (2024). P2RX7, an adaptive immune response gene, is associated with Parkinson’s disease risk and age at onset. Journal of Parkinson’s Disease. https://doi.org/10.1177/1877718x241296015
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Santana Almansa, A., Snyder, L. G., Chung, W. K., Bain, J. M., & Srivastava, S. (2024). Motor phenotypes associated with genetic neurodevelopmental disorders. Annals of Clinical and Translational Neurology. Portico. https://doi.org/10.1002/acn3.52231
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Wang, W., Williams, D. J., Teoh, J. J., Soundararajan, D., Zuberi, A., Lutz, C. M., Frankel, W. N., & Makinson, C. D. (2024). Impaired axon initial segment structure and function in a model of ARHGEF9 developmental and epileptic encephalopathy. Proceedings of the National Academy of Sciences, 121(42). https://doi.org/10.1073/pnas.2400709121
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Tomasello, D. L., Barrasa, M. I., Mankus, D., Alarcon, K. I., Lytton-Jean, A. K. R., Liu, X. S., & Jaenisch, R. (2024). Mitochondrial dysfunction and increased reactive oxygen species production in MECP2 mutant astrocytes and their impact on neurons. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-024-71040-y
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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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Tayran, H., Yilmaz, E., Bhattarai, P., Min, Y., Wang, X., Ma, Y., Wang, N., Jeong, I., Nelson, N., Kassara, N., Cosacak, M. I., Dogru, R. M., Reyes-Dumeyer, D., Stenersen, J. M., Reddy, J. S., Qiao, M., Flaherty, D., Gunasekaran, T. I., Yang, Z., … Kizil, C. (2024). ABCA7-dependent induction of neuropeptide Y is required for synaptic resilience in Alzheimer’s disease through BDNF/NGFR signaling. Cell Genomics, 4(9), 100642. https://doi.org/10.1016/j.xgen.2024.100642
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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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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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Wang, Y., Sarnowski, C., Lin, H., Pitsillides, A. N., Heard‐Costa, N. L., Choi, S. H., Wang, D., Bis, J. C., Blue, E. E., Boerwinkle, E., De Jager, P. L., Fornage, M., Wijsman, E. M., Seshadri, S., Dupuis, J., Peloso, G. M., & DeStefano, A. L. (2024). Key variants via the Alzheimer’s Disease Sequencing Project whole genome sequence data. Alzheimer’s & Dementia, 20(5), 3290–3304. Portico. https://doi.org/10.1002/alz.13705
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Griffiths, K. K., Wang, A., Jonas, E. A., & Levy, R. J. (2024). Sulfide quinone oxidoreductase contributes to voltage sensing of the mitochondrial permeability transition pore. The FASEB Journal, 38(4). Portico. https://doi.org/10.1096/fj.202301280r
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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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Mei, H., Simino, J., Li, L., Jiang, F., Bis, J. C., Davies, G., Hill, W. D., Xia, C., Gudnason, V., Yang, Q., Lahti, J., Smith, J. A., Kirin, M., De Jager, P., Armstrong, N. J., Ghanbari, M., Kolcic, I., Moran, C., Teumer, A., … Mosley, T. H. (2024). Multi-omics and pathway analyses of genome-wide associations implicate regulation and immunity in verbal declarative memory performance. Alzheimer’s Research & Therapy, 16(1). https://doi.org/10.1186/s13195-023-01376-6
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Abela, L., Gianfrancesco, L., Tagliatti, E., Rossignoli, G., Barwick, K., Zourray, C., Reid, K. M., Budinger, D., Ng, J., Counsell, J., Simpson, A., Pearson, T. S., Edvardson, S., Elpeleg, O., Brodsky, F. M., Lignani, G., Barral, S., & Kurian, M. A. (2024). Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy. Brain, 147(6), 2023–2037. https://doi.org/10.1093/brain/awae020
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Tener, S. J., Lin, Z., Park, S. J., Oraedu, K., Ulgherait, M., Van Beek, E., Martínez-Muñiz, A., Pantalia, M., Gatto, J. A., Volpi, J., Stavropoulos, N., Ja, W. W., Canman, J. C., & Shirasu-Hiza, M. (2024). Neuronal knockdown of Cullin3 as a Drosophila model of autism spectrum disorder. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-024-51657-9
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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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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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Heilmann, R., Pfalzer, A., Bichell, T. J., Terala, A., Campbell, A., Taatjes, D., Ghoumid, J., Grueter, C., Bain, J., Strich, R., Dias, V., Sokorai, K., Seaver, N., Sexton, K., & Boychuck, K. (2024). The MED13L Foundation strategic research plan: a roadmap to the future. Therapeutic Advances in Rare Disease, 5. https://doi.org/10.1177/26330040241290252
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Sparks, J., Michelassi, F., Thompson, J. L. P., Buchsbaum, R., Pires, N., DeRosa, J. T., Engelstad, K., DiMauro, S., Akman, H. O., & Hirano, M. (2024). A United States-based patient-reported adult polyglucosan body disease registry: initial results. Therapeutic Advances in Rare Disease, 5. https://doi.org/10.1177/26330040241227452
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Walters, S., Eissman, J. M., Mukherjee, S., Lee, M. L., Choi, S., Scollard, P., Trittschuh, E. H., Mez, J. B., Bush, W. S., Kunkle, B. W., Naj, A. C., Gifford, K. A., Cuccaro, M. L., Cruchaga, C., Pericak‐Vance, M. A., Farrer, L. A., Wang, L., Haines, J. L., … Jefferson, A. L. (2023). Genetic predictors of multiple cognitive domains within ancestry groups in older adults. Alzheimer’s & Dementia, 19(S12). Portico. https://doi.org/10.1002/alz.079076
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Eissman, J. M., Walters, S., Mukherjee, S., Lee, M. L., Choi, S., Scollard, P., Trittschuh, E. H., Mez, J. B., Bush, W. S., Kunkle, B. W., Naj, A. C., Gifford, K. A., Cuccaro, M. L., Cruchaga, C., Pericak‐Vance, M. A., Farrer, L. A., Wang, L., Haines, J. L., … Jefferson, A. L. (2023). Sex‐specific genetic architecture of multiple domains of cognition among older adults. Alzheimer’s & Dementia, 19(S12). Portico. https://doi.org/10.1002/alz.077007
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Archer, D. B., Eissman, J. M., Mukherjee, S., Lee, M. L., Choi, S., Scollard, P., Trittschuh, E. H., Mez, J. B., Bush, W. S., Kunkle, B. W., Naj, A. C., Gifford, K. A., Cuccaro, M. L., Pericak‐Vance, M. A., Farrer, L. A., Wang, L., Schellenberg, G. D., Mayeux, R. P., … Haines, J. L. (2023). Longitudinal change in memory performance as a strong endophenotype for Alzheimer’s disease. Alzheimer’s & Dementia, 20(2), 1268–1283. Portico. https://doi.org/10.1002/alz.13508
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Eissman, J. M., Archer, D. B., Mukherjee, S., Lee, M. L., Choi, S., Scollard, P., Trittschuh, E. H., Mez, J. B., Bush, W. S., Kunkle, B. W., Naj, A. C., Gifford, K. A., Cuccaro, M. L., Cruchaga, C., Pericak‐Vance, M. A., Farrer, L. A., Wang, L., Schellenberg, G. D., … Mayeux, R. P. (2023). Sex‐specific genetic architecture of late‐life memory performance. Alzheimer’s & Dementia, 20(2), 1250–1267. Portico. https://doi.org/10.1002/alz.13507
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Lachiewicz, A. M., Stackhouse, T. M., Burgess, K., Burgess, D., Andrews, H. F., Choo, T.-H., Kaufmann, W. E., & Kidd, S. A. (2023). Sensory Symptoms and Signs of Hyperarousal in Individuals with Fragile X Syndrome: Findings from the FORWARD Registry and Database Multisite Study. Journal of Autism and Developmental Disorders. https://doi.org/10.1007/s10803-023-06135-y
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Crawford, T., Darras, B., Day, J., De Vivo, D., Mercuri, E., Nascimento, A., Mazzone, E., Waugh, A., Song, G., Evans, R., & Marantz, J. (2023). P224 Effect of apitegromab on motor function at 36 months in patients with nonambulatory spinal muscular atrophy aged 2-12 years old. Neuromuscular Disorders, 33, S91. https://doi.org/10.1016/j.nmd.2023.07.106
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Myers, S. J., Yuan, H., Perszyk, R. E., Zhang, J., Kim, S., Nocilla, K. A., Allen, J. P., Bain, J. M., Lemke, J. R., Lal, D., Benke, T. A., & Traynelis, S. F. (2023). Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function. Human Molecular Genetics, 32(19), 2857–2871. https://doi.org/10.1093/hmg/ddad104
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Thomas, J. F., Valencia-Sánchez, M. I., Tamburri, S., Gloor, S. L., Rustichelli, S., Godínez-López, V., De Ioannes, P., Lee, R., Abini-Agbomson, S., Gretarsson, K., Burg, J. M., Hickman, A. R., Sun, L., Gopinath, S., Taylor, H. F., Sun, Z.-W., Ezell, R. J., Vaidya, A., Meiners, M. J., … Armache, K.-J. (2023). Structural basis of histone H2A lysine 119 deubiquitination by Polycomb repressive deubiquitinase BAP1/ASXL1. Science Advances, 9(32). https://doi.org/10.1126/sciadv.adg9832
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Baker, B. H., Zhang, S., Simon, J. M., McLarnan, S. M., Chung, W. K., & Pearson, B. L. (2023). Environmental carcinogens disproportionally mutate genes implicated in neurodevelopmental disorders. Frontiers in Neuroscience, 17. https://doi.org/10.3389/fnins.2023.1106573
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Maroofian, R., Kaiyrzhanov, R., Cali, E., Zamani, M., Zaki, M. S., Ferla, M., Tortora, D., Sadeghian, S., Saadi, S. M., Abdullah, U., Karimiani, E. G., Efthymiou, S., Yeşil, G., Alavi, S., Al Shamsi, A. M., Tajsharghi, H., Abdel-Hamid, M. S., Saadi, N. W., Al Mutairi, F., … Severino, M. (2023). Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain, 146(12), 5031–5043. https://doi.org/10.1093/brain/awad257
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Chen, L., Arango, S. M., Obregon, A. M., Samper‐Ternent, R., Wong, R., Reyes‐Dumeyer, D., Renteria, M. A., Tosto, G., & Barral, S. (2023). Genomewide analysis of Episodic Memory trajectories in The Mexican Health and Aging Study (MHAS). Alzheimer’s & Dementia, 19(S1). Portico. https://doi.org/10.1002/alz.063645
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Chung, J., Sun, X., Schmidt, M. A., Song, Y. E., Grunin, M., Palmer, E. L., Bush, W. S., Naj, A. C., Rajabli, F., Hamilton‐Nelson, K. L., Zhang, X., Leung, Y. Y., Wang, L., Mayeux, R., Schellenberg, G. D., Vance, M. A., Haines, J. L., Farrer, L. A., Kunkle, B. W., & Martin, E. R. (2023). Variants near X‐Chromosome Genes NLGN4X and PTCHD1 are Significantly Associated with Alzheimer’s Disease Risk. Alzheimer’s & Dementia, 19(S1). Portico. https://doi.org/10.1002/alz.067117
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Columbia Affiliation
Ghanem, A., Berry, D. S., Farrell, K., Cosentino, S., Crary, J. F., & Louis, E. D. (2023). Cognitive Performance as a Function of MAPT Haplotype: A Prospective Longitudinal Study of an Essential Tremor Cohort. Tremor and Other Hyperkinetic Movements, 13(1). https://doi.org/10.5334/tohm.768
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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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Ong, H. W., Liang, Y., Richardson, W., Lowry, E. R., Wells, C. I., Chen, X., Silvestre, M., Dempster, K., Silvaroli, J. A., Smith, J. L., Wichterle, H., Pabla, N. S., Ultanir, S. K., Bullock, A. N., Drewry, D. H., & Axtman, A. D. (2023). Discovery of a Potent and Selective CDKL5/GSK3 Chemical Probe That Is Neuroprotective. ACS Chemical Neuroscience, 14(9), 1672–1685. https://doi.org/10.1021/acschemneuro.3c00135
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Ferhat, A.-T., Verpy, E., Biton, A., Forget, B., De Chaumont, F., Mueller, F., Le Sourd, A.-M., Coqueran, S., Schmitt, J., Rochefort, C., Rondi-Reig, L., Leboucher, A., Boland, A., Fin, B., Deleuze, J.-F., Boeckers, T. M., Ey, E., & Bourgeron, T. (2023). Excessive self-grooming, gene dysregulation and imbalance between the striosome and matrix compartments in the striatum of Shank3 mutant mice. Frontiers in Molecular Neuroscience, 16. https://doi.org/10.3389/fnmol.2023.1139118
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Sheppard, S. E., Bryant, L., Wickramasekara, R. N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C. J., Faundes, V., Duffourd, Y., Lee, P., Simon, M. C., de la Cruz, X., Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D., … Stessman, H. A. F. (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10). https://doi.org/10.1126/sciadv.ade1463
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Palmer, E. E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M. H., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogné, B., Beneteau, C., Alkuraya, F. S., Chedrawi, A., Hashem, M. O., Stamberger, H., Weckhuysen, S., Vanlander, A., … Kalscheuer, V. M. (2022). Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry, 28(2), 668–697. https://doi.org/10.1038/s41380-022-01852-9
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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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