Campbell Laboratory Publications

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Below are selected publications from the Campbell Laboratory.

Campbell IM, et al. Platelet findings in 22q11.2 DS correlate with disease manifestations but are not due to GP1b surface expression. Clin Genet. 2023 Jan; 103(1):109-113. PMID: 36075864
Campbell IM, Crowley TB, Keena B, Donoghue S, McManus ML, Zackai EH. The Experience of One Pediatric Geneticist with Telemedicine-Based Clinical Diagnosis. Am J Med Genet A. 2022 Dec; 188(12):3416-3422. PMID: 35906847
Szigety KM, et al. Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care. Pediatrics. 2022 Jun; e2021054520. PMID: 35642503
Gold NB, Campbell IM, Sheppard SE, Tan WH. Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization. Sci Rept. 2021 Oct; 11(1):19791. PMID 34611197
Gold JI, Campbell IM, Ficicioglu C. Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening. Int. J. Neonatal Screen. 2021 Jul; 7(3):38. PMID: 34287223
Sheppard SE, et al. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 Jun; 185(6):1649-1665. PMID: 33783954
Campbell IM, et al. What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia. Am J Med Genet A. 2018 Oct; 176(10):2058-2069. PMID: 30380191