Lysosomal Storage Diseases
Inherited Connective Tissue disorders
Neurofibromatosis type 1 (NF1)
Sex chromosome disorders
Selected Publications
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 November 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 November 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 October 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 October 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 October 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 July 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 July 2025.
Kishnani P, Roberts M, Wenninger S, Kolbruck A, Kallish S: Navigating treatment switch in Late-onset Pompe disease (LOPD). Neurology 13(Suppl 4): 2-11, May 2025.
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): published electronically, Apr 2025.
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.
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Last updated: 11/21/2025
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