Lysosomal Storage Diseases
Inherited Connective Tissue disorders
Neurofibromatosis type 1 (NF1)
Sex chromosome disorders
Selected Publications
Schaefer L, Christensen S, Carlson E, Bamba V, Kanakatti Shankar R, Brickman W, Law JH, Prakash S, Gutmark Little I, Flechner P, Klein K, Ladd J, Crenshaw ML, Kallish S, Davis S, Pinnaro C, Strong A: Prevalence of congenital anomalies of the kidney and urinary tract in a national database of patients with Turner syndrome. Poster presentation at American College of Medical Genetics meeting 2026 March 2026.
Gilmartin AA, Blout Zawatsky C, Somanchi H, Yeo J, Hickey RE, Kallish S, Pritchard AB, Madry A, Quadri A, Chase CL, Shelkowitz E, Chang I, Baker J, Swanson K, Anderson K, Duque Lasio ML, Gold NB: Actionable parental diagnoses from expanded carrier screening. Poster presentation at American College of Medical Genetics meeting 2026 March 2026.
Cohen E, Hennessy L, Mazzella A, Kessler LJ, Hartman TR, Testa L, Kallish S: Optimizing Diagnostic Referrals for Marfan Syndrome: Phenotypic Risk Stratification in the Pediatric Population. Poster presentation at American College of Medical Genetics meeting 2026 March 2026.
Kallish S, Nelson M, Ostrovsky Y, Zabinski J, Hennessy L, Veleva-Rotse BO, Guiliano JD: Can artificial intelligence reduce racial and ethnic
disparities in Fabry disease diagnosis? Poster presentation at American College of Medical Genetics meeting 2026 March 2026.
Elysee I, Hennessy L, Kallish S: Evaluation for A-gal syndrome leading to diagnoses of late-onset Fabry disease. Poster presentation at WORLD symposium February 2026.
Gold JI, Elkaim Y, Gold NB, Asher S, Raper A, Condit C, Bogus Z, Elysee I, Hennessy L, Kennedy E, Briere LC, Sweetser DA, Kripke C, Verma A, Salmasian H, Landry L, Nathanson KL, Kallish S, Drivas TG: Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population. American Journal of Human Genetics 13(1): 29-40, January 2026.
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 62(12): 798-807, December 2025.
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 Page: 105061, 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.
back to top
Last updated: 03/20/2026
The Trustees of the University of Pennsylvania
