Kallish S, Nelson M, Ostrovsky Y, Zabinski J, Hennessey L, Veleva-Rotse BO, Guiliano JD Can artifical intelligence reduce racial and ethnic disparities in Fabry disease diagnosis? , Poster presentation as American Society of Nephrology Kidney week 2025: 2025
Cocchella G, Phung L, Wood E, Egleston B, Hoffman-Andrews L, Brown S, Ofidis D, Mim R, Griffin H, Fetzer D, Owens A, Domchek S, Pyeritz R, Katona BW, Kallish S, Sirugo G, Weaver J, Nathanson KL, Rader DL, Bradbury AR An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank , European Journal Medical Genetics: 2025
Bradbury AR, Wood EM, Godbole AR, Shastri S, Brian Egleston B, Hoffman-Andrews L, Brown S, Ofidis D, Feng J, Owens A, Domchek S, Katona B, Kallish S, Sirugo G, Weaver J, Fleisher L, Wen KY, Elkin E, Nathanson K, Rader D RESPECT3: A randomized study evaluating return of actionable genetic research
results from the Penn Medicine Biobank , Platform presentation to American Society of Human Genetics meeting 2025: 2025
Patel N, Liu Y, Thomas L, Kwok B, Kallish S, Spiller K, Petrie RJ, Han L Impact of Type V Collagen Haploinsufficiency on the Immuno-Mechanosensitive Transcriptomic Responses in Fibroblasts , Platform presentation at Biomedical Engineering Society Annual Meeting 2025: 2025
Gold JI, Elkaim Y, Gold NB, Asher S, Raper R, Condit C, Bogus Z, Elysee I, Hennessey L, Kennedy E, Chai T, Cohen S, Gehringer B, Gray SM, Streator A, Sweetser DA, Verma A, Salmasian H, Kripke C, Landry L, Nathanson KL, Rohanizadegan M, Kallish S, Drivas TG 8000 adults in 8 years: a single adult genetics practice's experience reveals high testing yield across the lifespan and significant racial and socioeconomic disparities in access to evaluation and testing , Poster presentation at American Society of Human Genetics 2025: 2025
Ocampo Mascaro J, Toder K, Kallish S, Al Mukaddam M Applying the Hypophosphatasia Diagnostic Criteria in a Patient Cohort at the Penn Bone Center , Poster presentation at Endocrine Society meeting: 2025
Ocampo Mascaro J, Toder K, Kallish S, Al Mukaddam M Applying the Hypophosphatasia Diagnostic Criteria in a Patient Cohort at the Penn Bone Center , Poster presentation at Endocrine Society meeting 2025: 2025
Kishnani P, Roberts M, Wenninger S, Kolbruck A, Kallish S Navigating treatment switch in Late-onset Pompe disease (LOPD) , Neurology, 13(Suppl 4): 2025,2-11
Safonov A, Nomakuchi TT, Chao E, Horton C, Dolinsky JS, Yussuf A, Richardson M, Speare V, Li S, Bogus ZC, Bonanni M, Raper A, Odia T, Wubbenhorst BS, Faulders E, Schuth EM, Loranger K, Zhang J, Scalise CB. ElNaggar A, Sha Y, Felker SA, Weiztel J, Kallish S, Ritchie MD, Penn Medicine Biobank, Nathanson KL, Drivas TG A genotype-first approach identified high incidence of NF1 pathogenic variants with distinct disease associations , Nature Communications, 16(3121): 2025,published electronically
Kallish S, Camporeale A, Hopkin RJ, Jovanovic A, Nordbeck P, Veleva-Rotse BO, Krusinska E, Torra R. Long-term efficacy of migalastat in females with Fabry disease , Journal of Medical Genetics, epub ahead of print: 2025