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

Karger, L. M., Webb, B. D., Edelmann, L., Liao, J., & Mehta, L. (2024). Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia. American Journal of Medical Genetics Part A. Portico. https://doi.org/10.1002/ajmg.a.63954

McNamee, L., Schoch, K., Huang, A., Lee, H., Wang, L., Smith, E. C., Lark, R. K., Buckley, A. F., Jobanputra, V., Nelson, S. F., & Shashi, V. (2024). Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy. American Journal of Medical Genetics Part A, 194(11). Portico. https://doi.org/10.1002/ajmg.a.63798

Rabin, R., Hirsch, Y., Booth, K. T. A., Hall, P. L., Yachelevich, N., Mistry, P. K., Ekstein, J., & Pappas, J. (2024). ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry. American Journal of Medical Genetics Part A. Portico. https://doi.org/10.1002/ajmg.a.63919

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

Jiang, N., Sewell, T. B., Kowalski, T. L., Rekab, A., Hills, S., Fazlollahi, L., Lauren, C. T., Morel, K., Mehta, L., & Liao, J. (2023). Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa. American Journal of Medical Genetics Part A, 194(2), 389–393. Portico. https://doi.org/10.1002/ajmg.a.63447

Freiman, A., Rekab, A., Bergner, A. L., Pereira, E. M., Lin, Y., & Ahimaz, P. (2023). Exploring the evolving roles of clinical geneticists and genetic counselors in the era of genomic medicine. American Journal of Medical Genetics Part A, 194(4). Portico. https://doi.org/10.1002/ajmg.a.63502

Ahimaz, P., Bergner, A. L., Florido, M. E., Harkavy, N., & Bhattacharyya, S. (2023). Genetic counselors’ utilization of ChatGPT in professional practice: A cross‐sectional study. American Journal of Medical Genetics Part A, 194(4). Portico. https://doi.org/10.1002/ajmg.a.63493

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

Rork, W. C., Hertz, A. G., Wiese, A. D., Kostick, K. M., Nguyen, D., Schneider, S. C., Shepherd, W. S., Cho, H., Murali, C. N., Lee, B., Sutton, V. R., & Storch, E. A. (2023). A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta. American Journal of Medical Genetics Part A, 191(9), 2267–2275. Portico. https://doi.org/10.1002/ajmg.a.63323

Kaur, M., Blair, J., Devkota, B., Fortunato, S., Clark, D., Lawrence, A., Kim, J., Do, W., Semeo, B., Katz, O., Mehta, D., Yamamoto, N., Schindler, E., Al Rawi, Z., Wallace, N., Wilde, J. J., McCallum, J., Liu, J., Xu, D., … Krantz, I. D. (2023). Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms. American Journal of Medical Genetics Part A, 191(8), 2113–2131. Portico. https://doi.org/10.1002/ajmg.a.63247

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

Odgis, J. A., Gallagher, K. M., Rehman, A. U., Marathe, P. N., Bonini, K. E., Sebastin, M., Di Biase, M., Brown, K., Kelly, N. R., Ramos, M. A., Thomas‐Wilson, A., Guha, S., Okur, V., Ganapathi, M., Elkhoury, L., Edelmann, L., Zinberg, R. E., Abul‐Husn, N. S., Diaz, G. A., … Gelb, B. D. (2022). Detection of mosaic variants using genome sequencing in a large pediatric cohort. American Journal of Medical Genetics Part A, 191(3), 699–710. Portico. https://doi.org/10.1002/ajmg.a.63062

Ahimaz, P., Kramer, T., Swaroop, P., Mitchell, M., Hernan, R., Anyane‐Yeboa, K., & Pereira, E. M. (2022). Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome. American Journal of Medical Genetics Part A, 188(11), 3172–3183. Portico. https://doi.org/10.1002/ajmg.a.62945

Hardcastle, A., Berry, A. M., Campbell, I. M., Zhao, X., Liu, P., Gerard, A. E., Rosenfeld, J. A., Sisoudiya, S. D., Hernandez‐Garcia, A., Loddo, S., Di Tommaso, S., Novelli, A., Dentici, M. L., Capolino, R., Digilio, M. C., Graziani, L., Rustad, C. F., Neas, K., Ferrero, G. B., … Scott, D. A. (2022). Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. American Journal of Medical Genetics Part A, 188(10), 2958–2968. Portico. https://doi.org/10.1002/ajmg.a.62919

O’Grady, L., Schrier Vergano, S. A., Hoffman, T. L., Sarco, D., Cherny, S., Bryant, E., Schultz‐Rogers, L., Chung, W. K., Sacharow, S., Immken, L. L., Holder, S., Blackwell, R. R., Buchanan, C., Yusupov, R., Lecoquierre, F., Guerrot, A., Rodan, L., de Vries, B. B. A., Kamsteeg, E. J., … Gold, N. B. (2022). Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. American Journal of Medical Genetics Part A, 188(9), 2750–2759. Portico. https://doi.org/10.1002/ajmg.a.62772

Reyes Diaz, J. V., Jin, Y., Garber, K., Cossen, K. M., Li, Y., Jin, P., Li, H., & Ham, J. N. (2022). A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism. American Journal of Medical Genetics Part A, 188(8), 2429–2433. Portico. https://doi.org/10.1002/ajmg.a.62843

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

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

Budimirovic, D. B., Protic, D. D., Delahunty, C. M., Andrews, H. F., Choo, T., Xu, Q., Berry‐Kravis, E., & Kaufmann, W. E. (2021). Sleep problems in fragile X syndrome: Cross‐sectional analysis of a large clinic‐based cohort. American Journal of Medical Genetics Part A, 188(4), 1029–1039. Portico. https://doi.org/10.1002/ajmg.a.62601

Daum, H., Ganapathi, M., Hirsch, Y., Griffin, E. L., LeDuc, C. A., Hagen, J., Yagel, S., Meiner, V., Chung, W. K., & Mor‐Shaked, H. (2021). Bi‐allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families. American Journal of Medical Genetics Part A, 188(1), 336–342. Portico. https://doi.org/10.1002/ajmg.a.62513

Stanley, K., Hostyk, J., Tran, L., Amengual‐Gual, M., Dugan, P., Clark, J., Choi, H., Tchapyjnikov, D., Perucca, P., Fernandes, C., Andrade, D., Devinsky, O., Cavalleri, G. L., Depondt, C., Sen, A., O’Brien, T., Heinzen, E., Loddenkemper, T., … Delanty, N. (2021). Genomic analysis of “microphenotypes” in epilepsy. American Journal of Medical Genetics Part A, 188(1), 138–146. Portico. https://doi.org/10.1002/ajmg.a.62505

Kushary, S. T., Revah‐Politi, A., Barua, S., Ganapathi, M., Accogli, A., Aggarwal, V., Brunetti‐Pierri, N., Cappuccio, G., Capra, V., Fagerberg, C. R., Gazdagh, G., Guzman, E., Hadonou, M., Harrison, V., Havelund, K., Iancu, D., Kraus, A., Lippa, N. C., Mansukhani, M., … Anyane Yeboa, K. (2021). ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. American Journal of Medical Genetics Part A, 185(12), 3740–3753. Portico. https://doi.org/10.1002/ajmg.a.62445

White‐Brown, A. M., Lemire, G., Ito, Y. A., Thornburg, O., Bain, J. M., & Dyment, D. A. (2021). A disease‐causing variant in HNRNPH2 inherited from an unaffected mother with skewed X‐inactivation. American Journal of Medical Genetics Part A, 188(2), 668–671. Portico. https://doi.org/10.1002/ajmg.a.62549