Lysosomal Storage Diseases
Inherited Connective Tissue disorders
Neurofibromatosis type 1 (NF1)
Sex chromosome disorders
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 July 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 Page: 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 Notes: in press.
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 Notes: in press.
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 June 2024.
Korin Miller: Quoted in "Selma Blair on Living With Ehler-Danlos Syndrome: ‘I Hurt All the Time’" SELF Magazine February 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.
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Last updated: 04/02/2025
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