Matthews, L. J., Martschenko, D. O., V, C. L., & Sabatello, M. (2025). Intersectionality in a Sociogenomic World: How do Race, Disability, Socioeconomic Status, and Polygenic Prediction Interact to Impact Perceptions of Educational Trajectories? Genetics in Medicine, 101368. https://doi.org/10.1016/j.gim.2025.101368

Berger, E., Jauss, R.-T., Ranells, J. D., Zonic, E., von Wintzingerode, L., Wilson, A., Wagner, J., Tuttle, A., Thomas-Wilson, A., Schulte, B., Rabin, R., Pappas, J., Odgis, J. A., Muthaffar, O., Mendez-Fadol, A., Lynch, M., Levy, J., Lehalle, D., Lake, N. J., … Jamra, R. A. (2024). Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders. Genetics in Medicine, 101326. https://doi.org/10.1016/j.gim.2024.101326

Sudnawa, K. K., Li, W., Calamia, S., Kanner, C. H., Bain, J. M., Abdelhakim, A. H., Geltzeiler, A., Mebane, C. M., Provenzano, F. A., Sands, T. T., Fee, R. J., Montes, J., Shen, Y., & Chung, W. K. (2024). Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder. Genetics in Medicine, 26(8), 101169. https://doi.org/10.1016/j.gim.2024.101169

Wright, J. R., Astrovskaya, I., Barns, S. D., Goler, A., Zhou, X., Shu, C., Snyder, L. G., Han, B., Aarrestad, A., Abbeduto, L., Aberbach, G., Aberle, S., Adegbite, A., Adeniji, D., Aguilar, M., Ahlers, K., Albright, C., Alessandri, M., Algaze, Z., … Chung, W. K. (2024). Return of genetic research results in 21,532 individuals with autism. Genetics in Medicine, 101202. https://doi.org/10.1016/j.gim.2024.101202

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

Schmidt, R. J., Steeves, M., Bayrak-Toydemir, P., Benson, K. A., Coe, B. P., Conlin, L. K., Ganapathi, M., Garcia, J., Gollob, M. H., Jobanputra, V., Luo, M., Ma, D., Maston, G., McGoldrick, K., Palculict, T. B., Pesaran, T., Pollin, T. I., Qian, E., Rehm, H. L., … Fan, Y. (2024). Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. Genetics in Medicine, 26(3), 101036. https://doi.org/10.1016/j.gim.2023.101036

Hughes, D., Gonzalez, D., Maegawa, G., Bernat, J. A., Holida, M., Giraldo, P., Atta, M. G., Chertkoff, R., Alon, S., Almon, E. B., Rocco, R., & Goker-Alpan, O. (2023). Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease. Genetics in Medicine, 25(12), 100968. https://doi.org/10.1016/j.gim.2023.100968

Martino, J., Liu, Q., Vukojevic, K., Ke, J., Lim, T. Y., Khan, A., Gupta, Y., Perez, A., Yan, Z., Milo Rasouly, H., Vena, N., Lippa, N., Giordano, J. L., Saraga, M., Saraga-Babic, M., Westland, R., Bodria, M., Piaggio, G., Bendapudi, P. K., … Sanna-Cherchi, S. (2023). Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies. Genetics in Medicine, 25(12), 100983. https://doi.org/10.1016/j.gim.2023.100983

Rehm, H. L., Alaimo, J. T., Aradhya, S., Bayrak-Toydemir, P., Best, H., Brandon, R., Buchan, J. G., Chao, E. C., Chen, E., Clifford, J., Cohen, A. S. A., Conlin, L. K., Das, S., Davis, K. W., del Gaudio, D., Del Viso, F., DiVincenzo, C., Eisenberg, M., Guidugli, L., … Rehm, H. (2023). The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genetics in Medicine, 25(12), 100947. https://doi.org/10.1016/j.gim.2023.100947

Welch, C. L., Aldred, M. A., Balachandar, S., Dooijes, D., Eichstaedt, C. A., Gräf, S., Houweling, A. C., Machado, R. D., Pandya, D., Prapa, M., Shaukat, M., Southgate, L., Tenorio-Castano, J., Callejo, E. P., Day, K. M., Macaya, D., Maldonado-Velez, G., Chung, W. K., Archer, S. L., … Zateyshchikov, D. (2023). Defining the clinical validity of genes reported to cause pulmonary arterial hypertension. Genetics in Medicine, 25(11), 100925. https://doi.org/10.1016/j.gim.2023.100925

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

Cook, L., Verbrugge, J., Schwantes-An, T.-H., Schulze, J., Beck, J. C., Naito, A., Hall, A., Chan, A. K., Casaceli, C. J., Marder, K., Nance, M., Schwarzschild, M. A., Simuni, T., Wills, A.-M., & Alcalay, R. N. (2023). Providing genetic testing and genetic counseling for Parkinson’s disease to the community. Genetics in Medicine, 25(10), 100907. https://doi.org/10.1016/j.gim.2023.100907

Connolly, J. J., Berner, E. S., Smith, M., Levy, S., Terek, S., Harr, M., Karavite, D., Suckiel, S., Holm, I. A., Dufendach, K., Nelson, C., Khan, A., Chisholm, R. L., Allworth, A., Wei, W.-Q., Bland, H. T., Clayton, E. W., Soper, E. R., Linder, J. E., … Sabatello, M. (2023). Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores. Genetics in Medicine, 25(9), 100906. https://doi.org/10.1016/j.gim.2023.100906

Abul-Husn, N. S., Marathe, P. N., Kelly, N. R., Bonini, K. E., Sebastin, M., Odgis, J. A., Abhyankar, A., Brown, K., Di Biase, M., Gallagher, K. M., Guha, S., Ioele, N., Okur, V., Ramos, M. A., Rodriguez, J. E., Rehman, A. U., Thomas-Wilson, A., Edelmann, L., Zinberg, R. E., … Gelb, B. D. (2023). Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients. Genetics in Medicine, 25(9), 100880. https://doi.org/10.1016/j.gim.2023.100880

Miller, D. T., Lee, K., Abul-Husn, N. S., Amendola, L. M., Brothers, K., Chung, W. K., Gollob, M. H., Gordon, A. S., Harrison, S. M., Hershberger, R. E., Klein, T. E., Richards, C. S., Stewart, D. R., & Martin, C. L. (2023). ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 25(8), 100866. https://doi.org/10.1016/j.gim.2023.100866

Martin, K., Dar, P., MacPherson, C., Egbert, M., Demko, Z., Parmar, S., Hashimoto, K., Haeri, S., Malone, F., Wapner, R. J., Roman, A. S., Khalil, A., Faro, R., Madankumar, R., Strong, N., Silver, R. M., Vohra, N., Hyett, J., Rabinowitz, M., … Norton, M. E. (2023). Performance of prenatal cfDNA screening for sex chromosomes. Genetics in Medicine, 25(8), 100879. https://doi.org/10.1016/j.gim.2023.100879

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

Lee, S. S.-J., Caruncho, M., Chung, W. K., Johnston, J., Tabb, K., & Appelbaum, P. S. (2023). Individualized interventions for rare genetic conditions and the research-treatment spectrum: Stakeholder perspectives. Genetics in Medicine, 25(6), 100832. https://doi.org/10.1016/j.gim.2023.100832

Rasouly, H. M., Balderes, O., Marasa, M., Fernandez, H., Lipton, M., Lin, F., Gharavi, A. G., & Sabatello, M. (2023). The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists. Genetics in Medicine, 25(5), 100814. https://doi.org/10.1016/j.gim.2023.100814

Spillmann, R. C., Tan, Q. K.-G., Reuter, C., Schoch, K., Kohler, J., Bonner, D., Zastrow, D., Alkelai, A., Baugh, E., Cope, H., Marwaha, S., Wheeler, M. T., Bernstein, J. A., Shashi, V., Acosta, M. T., Adam, M., Adams, D. R., Alvey, J., Amendola, L., … Zuchner, S. (2023). A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network. Genetics in Medicine, 25(4), 100353. https://doi.org/10.1016/j.gim.2022.12.001

Linder, J. E., Allworth, A., Bland, H. T., Caraballo, P. J., Chisholm, R. L., Clayton, E. W., Crosslin, D. R., Dikilitas, O., DiVietro, A., Esplin, E. D., Forman, S., Freimuth, R. R., Gordon, A. S., Green, R., Harden, M. V., Holm, I. A., Jarvik, G. P., Karlson, E. W., Labrecque, S., … Peterson, J. F. (2023). Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genetics in Medicine, 25(4), 100006. https://doi.org/10.1016/j.gim.2023.100006

Vockley, J., Brunetti-Pierri, N., Chung, W. K., Clarke, A. J., Gold, N., Green, R. C., Kagan, S., Moroz, T., Schaaf, C. P., Schulz, M., & De Baere, E. (2023). The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare. Genetics in Medicine, 25(4), 100022. https://doi.org/10.1016/j.gim.2023.100022

Williams, H. E., Aiyar, L., Dinulos, M. B., Flannery, D., McClure, M. L., Lloyd-Puryear, M. A., Sanghavi, K., Trotter, T. L., & Viskochil, D. (2022). Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 24(11), 2211–2219. https://doi.org/10.1016/j.gim.2022.07.017

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

Goldman, J. S., & Vallabh, S. M. (2022). Genetic counseling for prion disease: Updates and best practices. Genetics in Medicine, 24(10), 1993–2003. https://doi.org/10.1016/j.gim.2022.06.003

Sherafati, A., Elsekaily, O., Saadatagah, S., Kochan, D. C., Lee, C., Wiesner, G. L., Liu, C., Dellefave-Castillo, L., Namjou, B., Perez, E. F., Salvati, Z. M., Connolly, J. J., Hakonarson, H., Williams, M. S., Jarvik, G. P., Chung, W. K., McNally, E. M., Manolio, T. A., & Kullo, I. J. (2022). Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results. Genetics in Medicine, 24(10), 2123–2133. https://doi.org/10.1016/j.gim.2022.07.007

Raz, A., Timmermans, S., Eyal, G., Brothers, K., & Minari, J. (2022). Challenges for precision public health communication in the era of genomic medicine. Genetics in Medicine, 24(9), 1814–1820. https://doi.org/10.1016/j.gim.2022.05.010

Berger, S. M., Appelbaum, P. S., Siegel, K., Wynn, J., Saami, A. M., Brokamp, E., O’Connor, B. C., Hamid, R., Martin, D. M., & Chung, W. K. (2022). Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines. Genetics in Medicine, 24(9), 1878–1887. https://doi.org/10.1016/j.gim.2022.06.002

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

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

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

Miller, D. T., Lee, K., Abul-Husn, N. S., Amendola, L. M., Brothers, K., Chung, W. K., Gollob, M. H., Gordon, A. S., Harrison, S. M., Hershberger, R. E., Klein, T. E., Richards, C. S., Stewart, D. R., & Martin, C. L. (2022). ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 24(7), 1407–1414. https://doi.org/10.1016/j.gim.2022.04.006

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

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

Baptiste, C., & Pereira, E. (2022). eP079: Cerebellar atrophy, developmental delay and a VUS in the THG1L gene: A case report. Genetics in Medicine, 24(3), S52. https://doi.org/10.1016/j.gim.2022.01.116

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

Vena, N., Bogyo, K., Nestor, J., Sanna-Cherchi, S., Kiryluk, K., & Gharavi, A. (2022). eP270: Incorporating genetic services into adult kidney disease care. Genetics in Medicine, 24(3), S170–S171. https://doi.org/10.1016/j.gim.2022.01.305

Wright, J., Barns, S., Goler, A., Hall, J., Han, B., Astrovskaya, I., Marchenko, O., Ganesan, S., Volfovsky, N., Feliciano, P., & Chung, W. (2022). eP287: Return of individual genetic results in the largest recontactable cohort of individuals with autism. Genetics in Medicine, 24(3), S181–S182. https://doi.org/10.1016/j.gim.2022.01.322

Sahajpal, N., Rodriguez, V., Kanyo, L., Stence, A., Skinner, S., Iqbal, A., Awayda, K., Levy, B., Broeckel, U., Scharer, G., Hackman, J., Mondal, A., Bossler, A., Nagy, P., & Kolhe, R. (2022). eP391: Optical genome mapping for constitutional postnatal SV, CNV, and repeat array sizing: A multi-site clinical study. Genetics in Medicine, 24(3), S246–S247. https://doi.org/10.1016/j.gim.2022.01.426

Revah-Politi, A., Kushary, S. (Tina), Vena, N., May, H., Lippa, N., Bier, L., Goldman, J., Alkelai, A., Baugh, E., Zoghbi, A., Kayser, R., Goldstein, D., & Simpson, H. B. (2022). eP435: Issues in interpreting results in research genomic testing for common disorders: an example within an OCD cohort. Genetics in Medicine, 24(3), S272–S273. https://doi.org/10.1016/j.gim.2022.01.469

Garofalo, D. C., Rosenblum, H. A., Zhang, Y., Chen, Y., Appelbaum, P. S., & Sabatello, M. (2022). Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals. Genetics in Medicine, 24(3), 712–721. https://doi.org/10.1016/j.gim.2021.11.015

Li, H., Engel, C., de la Hoya, M., Peterlongo, P., Yannoukakos, D., Livraghi, L., Radice, P., Thomassen, M., Hansen, T. V. O., Gerdes, A.-M., Nielsen, H. R., Caputo, S. M., Zambelli, A., Borg, A., Solano, A., Thomas, A., Parsons, M. T., Antoniou, A. C., Leslie, G., … Goldgar, D. E. (2022). Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. Genetics in Medicine, 24(1), 119–129. https://doi.org/10.1016/j.gim.2021.08.016