Selected Publications
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen J, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham Jr JM, Sanchez-Lara PA, Del Campo M, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Ay PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BHY, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F.: Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome American Journal of Medical Genetics : 2021.
Al Mukaddam M, Kallish S, Raper A, Asher S, Khan AN.: Heterozygous mutation in WNT1 gene in brothers with early-onset osteoporosis Poster presentation at American Society for Bone and Mineral Research meeting : 2019.
Abdallah S. Geara, Staci Kallish, and Jonathan J. Hogan: The Impact of Whole-Exome Sequencing on Kidney
Disease Ontology: The Tip of the Iceberg? New England Journal of Medicine 74 (2): 281-283,2019.
Theodore G. Drivas, Stephanie B. Asher, Maria Bonanni, Staci Kallish: Identification of lysosomal storage disease by expanded carrier screening Poster presentation at WORLD Symposium lysosomal storage disease research and conference : 2019.
Agarwal R, Kallish S, Al Mukaddam M.: Hypoparathyroidism due to 22q11.2 deletion syndrome presenting as acute cardiomyopathy. American Association of Clinical Endocrinologists 4 (6): e467-e471,2018.
Asher SB, Chen R, Kallish S.: Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers-Danlos syndrome and related disorders. American Journal of Medical Genetics 176A (9): 1838-1844,2018.
Ian M. Campbell, Sarah E. Sheppard, T. Blaine Crowley, Daniel E. McGinn, Alice Bailey, Michael J. McGinn, Marta Unolt, Jelle F. Homans, Erin Y. Chen, Harold I. Salmons, J. William Gaynor, Elizabeth Goldmuntz, Oksana A. Jackson, Lorraine E. Katz, Maria R. Mascarenhas, Vincent F. X. Deeney, René M. Castelein, Karen B. Zur, Lisa Elden, Staci Kallish, Thomas F. Kolon, Sarah E. Hopkins, Madeline A. Chadehumbe, Michele P. Lambert, Brian J. Forbes, Julie S. Moldenhauer, Erica M. Schindewolf, Cynthia B. Solot, Edward M. Moss, Raquel E. Gur, Kathleen E. Sullivan, Beverly S. Emanuel, Elaine H. Zackai1, Donna M. McDonald-McGinn: What is new with 22q? An update from the 22q and You
Center at the Children's Hospital of Philadelphia American Journal of Medical Genetics 176A : 2058–2069,2018.
Rahul Agarwal, Staci Kallish, Mona Al Mukaddam: Hypoparathyroidism Presenting as Acute Cardiomyopathy in
Undiagnosed 22q11.2 Deletion syndrome
Poster presentation at 11th Biennial 22q11.2 Conference, Whistler, British Columbia : 2018.
Stephanie B. Asher, Rensa Chen, Staci Kallish: Mitral Valve Prolapse and Aortic Root Dilation in Adults with Hypermobile Ehlers-Danlos Syndrome and Related Disorders Poster presentation at Penn DOM Research Day : 2018.
Unolt M, Barry J, Digilio MC, Marino B, Bassett A, Oechslin E, Low DL, Belasco JL, Kallish S, Sullivan K, Zackai EH, McDonald-McGinn DM.: Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome. European Journal of Medical Genetics 61 (7): 411-415,2018.
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