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Pham, M. T., Mahan, J. D., Shah, S. H., Estes, S. I., & Kaler, S. G. (2025). Late-Onset Progressive Osseous Heteroplasia: 2 Unrelated Cases and Use of Positron Emission Tomography for Diagnosis. JCEM Case Reports, 3(3). https://doi.org/10.1210/jcemcr/luae204

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

Liao, J., Xu, N., Gao, H., Hardy, T., Levy, B., Mehta, L., Choy, K. W., Huang, H., & Zhang, J. (2025). Advances in Prenatal Cell‐Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation. Prenatal Diagnosis. Portico. https://doi.org/10.1002/pd.6752

Lesmana, H., Kim, S. Y., Corado, A. M., & Poskanzer, S. A. (2024). Casgevy (exagamglogene autotemcel) and Lyfgenia (lovotibeglogene autotemcel) for individuals 12 years and older with sickle cell disease (SCD) and recurrent vaso-occlusive crises (VOC): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine Open, 2, 101875. https://doi.org/10.1016/j.gimo.2024.101875

Lessel, I., Baresic, A., Chinn, I. K., May, J., Goenka, A., Chandler, K. E., Posey, J. E., Afenjar, A., Averdunk, L., Bedeschi, M. F., Besnard, T., Brager, R., Brick, L., Brugger, M., Brunet, T., Byrne, S., Calle-Martín, O. de la, Capra, V., Cardenas, P., … Lessel, D. (2025). DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2024.12.012

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

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

Schincariol-Manhe, B., Campagnolo, É., Spineli-Silva, S., de Leeuw, N., Correia-Costa, G. R., Pessoa, A., de Souza, C. F. M., Stevens, C., Javaher, P., Scallet, H. F., Mohr, J., Biskup, S., Herkert, J. C., Pfundt, R., Mehta, L., Rekab, A., Elloumi, H. Z., Sanyoura, M., Maciel-Guerra, A. T., … Vieira, T. P. (2024). Novel variants in the SOX11 gene: clinical description of seven new patients. European Journal of Human Genetics, 32(12), 1640–1646. https://doi.org/10.1038/s41431-024-01695-8

Brown, R. F., Close, C. T., Mailes, M. G., Gonzalez, L. J., Goetz, D. M., Filigno, S. S., Preslar, R., Tran, Q. T., Hempstead, S. E., Lomas, P., Brown, A. W., & Flume, P. A. (2024). Cystic fibrosis foundation position paper: Redefining the cystic fibrosis care team. Journal of Cystic Fibrosis, 23(6), 1045–1054. https://doi.org/10.1016/j.jcf.2024.09.011

Perrier, S., Macintosh, J., Misiaszek, A. D., Lambert, G., Guerrero, K., Tran, L. T., Müller, C. W., Pastinen, T., Maegawa, G. H. B., Thiffault, I., & Bernard, G. (2024). Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy. Human Mutation, 2024(1). Portico. https://doi.org/10.1155/2024/8807171

Bosman, W., Butler, K. M., Chang, C. A., Ganapathi, M., Guzman, E., Latta, F., Chung, W. K., Claverie-Martin, F., Davis, J. M., Hoenderop, J. G. J., & de Baaij, J. H. F. (2024). Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay. Clinical Kidney Journal, 17(8). https://doi.org/10.1093/ckj/sfae211

Pereira, E. M. (2024). Fetal Alcohol Spectrum Disorders. Pediatrics in Review, 45(5), 303–304. https://doi.org/10.1542/pir.2023-006038

Ma, M., Ganapathi, M., Zheng, Y., Tan, K.-L., Kanca, O., Bove, K. E., Quintanilla, N., Sag, S. O., Temel, S. G., LeDuc, C. A., McPartland, A. J., Pereira, E. M., Shen, Y., Hagen, J., Thomas, C. P., Nguyen Galván, N. T., Pan, X., Lu, S., Rosenfeld, J. A., … Bellen, H. J. (2024). Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genetics in Medicine, 26(7), 101125. https://doi.org/10.1016/j.gim.2024.101125

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

Pereira, E. M. (2024). Trisomy 21. Pediatrics in Review, 45(2), 116–117. https://doi.org/10.1542/pir.2022-005887

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

Cheung, C., Berger, S. M., Ross, M., Kramer, T., Li, Y., Andrews, C., Dergham, K. R., Spitz, E., Florido, M. E., & Ahimaz, P. (2024). Assessing management practices for variants of uncertain significance among genetic counselors in pediatrics. Journal of Genetic Counseling. Portico. https://doi.org/10.1002/jgc4.1860

Mehta, L., Begun, Y., Sanyoura, M., & Stanley, C. (2024). P242: Tissue specific pathogenic NIPBL variant causing Cornelia de Lange syndrome: A call to clinicians. Genetics in Medicine Open, 2, 101138. https://doi.org/10.1016/j.gimo.2024.101138

Berger, S., Mito, Y., & Mehta, L. (2024). P200: A novel 13q31.3q32.3 deletion identified on follow up of an inconclusive prenatal cell-Free DNA screening for trisomy 13. Genetics in Medicine Open, 2, 101097. https://doi.org/10.1016/j.gimo.2024.101097

Selvam, P., Mares Beltrán, C. F., Sen, K., & Morales Corado, A. (2024). Trofinetide approved for children and adults with Rett syndrome (RTT): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine Open, 2, 101856. https://doi.org/10.1016/j.gimo.2024.101856

Liang, H., Zhan, X., Wang, Y., Maegawa, G. H. B., & Zhang, H. (2023). Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1. Journal of Inherited Metabolic Disease, 47(2), 317–326. Portico. https://doi.org/10.1002/jimd.12705

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., Ross, M., Foltz, J., Sebastin, M., Naik, K., Kramer, T., Bogyo, K., & Primiano, M. (2023). Future Frontiers: Exploration of practices, challenges, and educational needs of genetic counselors in emerging subspecialties. Journal of Genetic Counseling, 32(6), 1238–1248. Portico. https://doi.org/10.1002/jgc4.1812

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

Hays, T., Hernan, R., Disco, M., Griffin, E. L., Goldshtrom, N., Vargas, D., Krishnamurthy, G., Bomback, M., Rehman, A. U., Wilson, A. T., Guha, S., Phadke, S., Okur, V., Robinson, D., Felice, V., Abhyankar, A., Jobanputra, V., & Chung, W. K. (2023). Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease. Circulation: Genomic and Precision Medicine, 16(5), 415–420. https://doi.org/10.1161/circgen.122.004050

Calame, D. G., Guo, T., Wang, C., Garrett, L., Jolly, A., Dawood, M., Kurolap, A., Henig, N. Z., Fatih, J. M., Herman, I., Du, H., Mitani, T., Becker, L., Rathkolb, B., Gerlini, R., Seisenberger, C., Marschall, S., Hunter, J. V., Gerard, A., … Lupski, J. R. (2023). Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. The American Journal of Human Genetics, 110(8), 1394–1413. https://doi.org/10.1016/j.ajhg.2023.06.013

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

Ahimaz, P., Foltz, J. C., Ross, M. J., Florido, M. E., Sebastin, M., & Yu, J. E. (2023). Exploring the role of genetic counselors in immunology: A study of immunologist and allergist perspectives. The Journal of Allergy and Clinical Immunology: In Practice, 11(6), 1939-1942.e2. https://doi.org/10.1016/j.jaip.2023.01.050

Mares Beltran, C. F., & Nesheiwat, N. (2023). Marfan Syndrome Incorrectly Diagnosed as Autism. Pediatrics, 151(5). https://doi.org/10.1542/peds.2022-059083

Santelices, J., Ou, M., Maegawa, G. H. B., Hercik, K., & Edelmann, M. J. (2023). USP8 inhibition regulates autophagy flux and controls Salmonella infection. Frontiers in Cellular and Infection Microbiology, 13. https://doi.org/10.3389/fcimb.2023.1070271

Lotan, D., DeFilippis, E. M., Oren, D., Vinogradsky, A., Rubinstein, G., Mathur, A., Takeda, K., Hua, M., Gaglio, P. J., Szabolcs, M. J., Sayer, G., Uriel, N., Iglesias, A. D., & Latif, F. (2023). Combined heart and liver transplantation in a patient supported by left ventricular assist device (LVAD) with propionic acidemia. Nutrition, Metabolism and Cardiovascular Diseases, 33(3), 667–670. https://doi.org/10.1016/j.numecd.2022.12.022

McGee, S. R., Rajamanickam, S., Adhikari, S., Falayi, O. C., Wilson, T. A., Shayota, B. J., Cooley Coleman, J. A., Skinner, C., Caylor, R. C., Stevenson, R. E., Quaio, C. R. D. A. C., Wilke, B. C., Bain, J. M., Anyane-Yeboa, K., Brown, K., Greally, J. M., Bijlsma, E. K., Ruivenkamp, C. A. L., Politi, K., … Jensik, P. J. (2022). Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders. Human Molecular Genetics, 32(3), 386–401. https://doi.org/10.1093/hmg/ddac200

Pereira, E. M. (2023). Trisomy 13. Pediatrics In Review, 44(1), 53–54. https://doi.org/10.1542/pir.2022-005517

Banka, S., Bennington, A., Baker, M. J., Rijckmans, E., Clemente, G. D., Ansor, N. M., Sito, H., Prasad, P., Anyane-Yeboa, K., Badalato, L., Dimitrov, B., Fitzpatrick, D., Hurst, A. C. E., Jansen, A. C., Kelly, M. A., Krantz, I., Rieubland, C., Ross, M., Rudy, N. L., … Millard, T. H. (2022). Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. Brain, 145(12), 4232–4245. https://doi.org/10.1093/brain/awac049

Barua, S., Pereira, E. M., Jobanputra, V., Anyane-Yeboa, K., Levy, B., & Liao, J. (2022). 3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities. Molecular Cytogenetics, 15(1). https://doi.org/10.1186/s13039-022-00587-0

Platzer, K., Sticht, H., Bupp, C., Ganapathi, M., Pereira, E. M., Le Guyader, G., Bilan, F., Henderson, L. B., Lemke, J. R., Taschenberger, H., Brose, N., Abou Jamra, R., & Wojcik, S. M. (2022). De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission. Annals of Neurology, 92(6), 958–973. Portico. https://doi.org/10.1002/ana.26485

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

Jain, N. G., Ahram, D. F., Marasa, M., Rehman, A. U., May, H. J., Zacharoulis, S., Revah-Politi, A., Florido, M. E., Whittemore, G. B., Aggarwal, V. S., Hargus, G., Anyane-Yeboa, K., D’Agati, V. D., Lin, F., Jobanputra, V., & Sanna-Cherchi, S. (2022). Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies. Kidney International Reports, 7(10), 2312–2316. https://doi.org/10.1016/j.ekir.2022.07.174

Küry, S., Zhang, J., Besnard, T., Caro-Llopis, A., Zeng, X., Robert, S. M., Josiah, S. S., Kiziltug, E., Denommé-Pichon, A.-S., Cogné, B., Kundishora, A. J., Hao, L. T., Li, H., Stevenson, R. E., Louie, R. J., Deb, W., Torti, E., Vignard, V., McWalter, K., … Isidor, B. (2022). Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genetics in Medicine, 24(9), 1941–1951. https://doi.org/10.1016/j.gim.2022.05.009

Pereira, E. M. (2022). Gene Therapy Update. Pediatrics In Review, 43(9), 536–537. https://doi.org/10.1542/pir.2021-005091

Santelices, J., Ou, M., Hui, W., Edelmann, M., & Maegawa, G. (2022). Fluorescent Labeling of Small Extracellular Vesicles (EVs) Isolated from Conditioned Media. BIO-PROTOCOL, 12(12). https://doi.org/10.21769/bioprotoc.4447

Dharmadhikari, A. V., Pereira, E. M., Andrews, C. C. ., Macera, M., Harkavy, N., Wapner, R., Jobanputra, V., Levy, B., Ganapathi, M., & Liao, J. (2022). Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl. Frontiers in Genetics, 13. https://doi.org/10.3389/fgene.2022.906077

Alves, C. A. P. F., Sherbini, O., D’Arco, F., Steel, D., Kurian, M. A., Radio, F. C., Ferrero, G. B., Carli, D., Tartaglia, M., Balci, T. B., Powell-Hamilton, N. N., Schrier Vergano, S. A., Reutter, H., Hoefele, J., Günthner, R., Roeder, E. R., Littlejohn, R. O., Lessel, D., Lüttgen, S., … Vanderver, A. (2022). Brain Abnormalities in Patients with Germline Variants inH3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors. American Journal of Neuroradiology, 43(7), 1048–1053. https://doi.org/10.3174/ajnr.a7555

Barua, S., Berger, S., Pereira, E. M., & Jobanputra, V. (2022). Expanding the phenotype of ATP6AP1 deficiency. Molecular Case Studies, 8(4), a006195. https://doi.org/10.1101/mcs.a006195

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

Yi, M., Wang, Y., Gao, X., Han, L., Qiu, W., Gu, X., Maegawa, G. H. B., & Zhang, H. (2022). Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA. Journal of Inherited Metabolic Disease, 45(3), 593–604. Portico. https://doi.org/10.1002/jimd.12491

Lippa, N., Bier, L., Revah-Politi, A., May, H., Kushary, S., Vena, N., Giordano, J. L., Rasouly, H. M., Cocchi, E., Sands, T. T., Wapner, R. J., Anyane-Yeboa, K., Gharavi, A. G., & Goldstein, D. B. (2022). Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting. Genetics in Medicine, 24(4), 862–869. https://doi.org/10.1016/j.gim.2021.12.010

Kowalski, T., Jiang, N., Lauren, C., Morel, K., Hills, S., Sewell, T., Liao, J., & Mehta, L. (2022). eP161: Homozygous deletion of the terminal exon of DSG3 associated with acantholytic blistering of the oral and laryngeal mucosa. Genetics in Medicine, 24(3), S98–S99. https://doi.org/10.1016/j.gim.2022.01.197

Kumble, S., Levy, A. M., Punetha, J., Gao, H., Ah Mew, N., Anyane‐Yeboa, K., Benke, P. J., Berger, S. M., Bjerglund, L., Campos‐Xavier, B., Ciliberto, M., Cohen, J. S., Comi, A. M., Curry, C., Damaj, L., Denommé‐Pichon, A., Emrick, L., Faivre, L., Fasano, M. B., … Tümer, Z. (2021). The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Human Mutation, 43(2), 266–282. Portico. https://doi.org/10.1002/humu.24308