Selected Publications

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.

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 : in press,2025.

Kallish S, Cole M: The role of Medical Genetics in the Penn Aorta Center Penn Aorta center podcast : 2025.

Kallish S, Wang G, Desai N: Case study: connective tissue disorder Penn Aorta Center video educational series : 2025.

Zhu D, Patel NB, Pishko AM, Weinberg EM, Takako TI, Kallish S, Johnson FB, Babushok DV, Courtwright AM: Evaluation of a screening protocol for telomere biology disorders in individuals with interstitial lung disease undergoing lung transplant evaluation European Respiratory Journal Open Research : 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, Youbao Sha Y, Felker SA, Weitzel J, Kallish S, Ritchie MD, Regeneron Genetics Center, Penn Medicine BioBank, Nathanson KL, Drivas TG: A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations Nature Communications : 2025.

Ocampo Mascaro J, Tran R, Kallish S, Berman J, Mukaddam AM: Clinical Features Of Adult Hypophosphatasia And Correlation Between Laboratory Findings And Patient’s Symptomatology: A Retrospective Review At The Penn Bone Center Poster presentation at Endocrine Society meeting June 2024 : 2024.

Korin Miller: Quoted in "Selma Blair on Living With Ehler-Danlos Syndrome: ‘I Hurt All the Time’" SELF Magazine : 2024.

Bradbury A, Wood E, Phung L, Egleston B, Ofidis D, Mim R, Howe S, Hoffman-Andrews L, Owens A, Domchek S, Pyeritz R, Katona B, Kallish S, Sirugo G, Weaver J, Nathanson K, Rader D: Facilitating return of genetic research results from a biobank repository: Participant uptake and utilization of digital interventions Poster presentation at American College of Medical Genetics Annual Clinical Genetics meeting : 2024.

Phung L, Wood E, Egleston B, Hoffman-Andrews L, Ofidis D, Howe S, Mim R, Griffin H, Fetzer D, Owens A, Domchek S, Pyeritz R, Katona B, Kallish S, Sirugo G, Weaver J, Nathanson KL, Rader DJ, Bradbury AR: Facilitating return of actionable genetic research results from a biobank repository: Participant uptake and utilization of digital interventions Human Genetics and Genomics Advances 5 (4): 100346,2024.

Academic Contact Information

Penn Medicine
Department of Medicine, Division of Translational Medicine and Human Genetics
3400 Spruce Street
5th Floor Silverstein, Suite 5100
Philadelphia, PA 19104
Phone: 215-662-4740
Patient appointments: 800-789-7366