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Alanna Strong, MD, PhD

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Assistant Professor of Pediatrics (Human Genetics)
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Department: Pediatrics
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1f Graduate Group Affiliations 8 a
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46 Contact information
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Children's Hospital of Philadelphia
22 Division of Human Genetics
1e 3615 Civic Center Blvd
47 Abramson Research Center, Room 1016D
Philadelphia, PA 19104
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2e Office: 267-582-0429
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13 Education:
21 7 BS 14 (Biology) c
33 University of Pennsylvania, 2005.
21 8 PhD 2b (Cellular and Molecular Biology) c
46 University of Pennsylvania School of Medicine, 2012.
21 7 MD c
46 University of Pennsylvania School of Medicine, 2014.
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b6 > Perelman School of Medicine   > Faculty   > Details a
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Description of Clinical Expertise

55 Genetics, genetic liver diseases, genetic kidney diseases, ciliopathy
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Description of Research Expertise

49 Ciliopathy, cilium, hepatobiliary disease, kidney disease
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Selected Publications

1bd Li D, Matsuoka LS, Donoghue S, Hou C, Strong A, McDonald-McGinn DM, Whitaker L, Taylor J, Bhoj EJ, Hakonarson H, Zackai EH: Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome. Eur J Hum Genet 33(12): 1684-1689, Dec 2025 Notes: doi: 10.1038/s41431-025-01887-w. Epub 2025 Jun 9.

10f Gold NB, Strong A, Somanchi H, Gold J: Are Inherited Metabolic Disorders More Common and Less Predictable Than We Thought? J Inherit Metab Dis 48(6): e70094, Nov 2025 Notes: doi: 10.1002/jimd.70094.

1f8 Strong A, McKenna C, Stals K, Vitobello A, Renaud M, Rieubland C, Guipponi M, Philippe C, Vrana P, Gaskell A, Innes AM, Rippert AL, Ahrens-Nicklas R, Bhoj E, Keller K, Chaudhari BP, Stone BS: Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay. Am J Med Genet A 197(10): e64119, Oct 2025 Notes: doi: 10.1002/ajmg.a.64119. Epub 2025 May 26.

11d Maripuri DP, Gold J, Gold N, Strong A: A New EP300 -Related Syndrome With Prominent Developmental and Immune Phenotypes. Am J Med Genet A 197(8): e64050, Aug 2025 Notes: oi: 10.1002/ajmg.a.64050. Epub 2025 Apr 1.

158 Watson D, Mentch F, Billings J, Ostberg K, March ME, Kalish JM, Li D, Cannon I, Guay-Woodford LM, Hartung E, Strong, A. : Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises. Am J Med Genet A 197(6): e64011, Jun 2025.

1af Cohen JL, Duyzend M, Adelson SM, Yeo J, Fleming M, Ganetzky R, Hale R, Mitchell DM, Morton SU, Reimers R, Roberts A, Strong A, Tan W, Thiagarajah JR, Walker MA, Green RC, Gold NB: Advancing precision care in pregnancy through a treatable fetal findings list. Am J Hum Genet 112(6): 1251-1269, Jun 2025 Notes: doi: 10.1016/j.ajhg.2025.03.011. Epub 2025 Apr 9.

18d Grady LO, Zoltick ES, Zouk H, He W, Perez E, Clarke L, Gold J, Strong A, Sahai I, Yeo J, Green RC, Karaa A, Gold NB : Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I. American Journal Med Genet A 197(4): e63940, Apr 2025.

13d Weaver N, Shikany A, Vieta E, Russell B, Lerman B, Strong A, Li D: Variants in MED12 are associated with left ventricular non-compaction and arrhythmia. American College of Medical Genetics Conference, Salt Lake City, UT Mar 2025 Notes: Poster.

fe Marshall RF, Landau-Prat D, Strong A, Katowitz JA, Katowitz WR. : Ocular and Systemic Abnormalities in Punctal Agenesis. Ophthalmic Plast Reconstr Surg 41(2): 209-212, Mar-Apr 2025.

12f Cardinale CJ, Liu Y, Kevadia A, Strong A, Watts VJ, Hakonarson H: The ulcerative colitis risk gene adenylyl cyclase 7 restrains the T helper 2 phenotype and Class II antigen presentation. J Crohns Colitis 19(3): jjaf030, Mar 2025.

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