Selected Publications

Wright CM, Priestley JRC, Szigety KM, Schmitt JE, Sheppard SE, Campbell IM : Assessment of Inter-pupillary Distance in a Racially/Ethnically Diverse Pediatric Sample from Electronic Health Record Data. American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting, Los Angeles, California 2025.

Nguyen QM, Liu C, Campbell IM, Weng C, Wang K: Fine-tuned Large Language Models on Clinical Notes and Structured ICD-10 Codes Facilitate Making Genetic Test Decisions for Rare Diseases. American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting, Los Angeles, California 2025.

Venkatesh R, Gacita AM, Keat K, Torres Diz M, Campbell IM, Helbig I, Ritchie MD: Reanalysis of Pediatric Exome and Genome Sequencing Identifies a High Prevalence of Actionable Pharmacogenetic Alleles in Children. American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting, Los Angeles, California 2025.

Chen F, Ahimaz P, Nguyen QM, Lewis R, Chung WK, Ta CN, Szigety KM, Sheppard SE, Campbell IM, Wang K, Weng C, Liu C: Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders. NPJ Digit Med 7(1): 333, Nov 2024.

Meester JAN, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal PS, Benichou A, Billon C, Blankensteijn JD, Brennan P, Bucks SA, Campbell IM, Conrad S, Curtis SL, Dasouki M, Dent CL, Eden J, Goel H, Hartill V, Houweling AC, Isidor B, Jackson N, Koopman P, Korpioja A, Kraatari-Tiri M, Kuulavainen L, Lee K, Low KJ, Lu AC, McManus ML, Oakley SP, Oliver J, Organ NM, Overwater E, Revencu N, Trainer AH, Trivedi B, Turner CLS, Whittington R, Zankl A, Zentner D, Van Laer L, Verstraeten A, Loeys BL.: Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome. NPJ Genom Med 9: 22, Mar 2024.

Campbell IM, Henin MM, Potter JM, Medne L, Obstfeld AE, Dulik MC: Precision Medicine for Mendelian Genetic Conditions in the Electronic Health Record of a Large Pediatric Health System. David Smith Workshop in Dysmorphology, Vancouver, BC 2024.

Campbell IM, Karavite DJ, Mcmanus ML, Cusick FC, Junod DC, Sheppard SE, Lourie EM, Shelov ED, Hakonarson H, Luberti AA, Muthu N, Grundmeier RW.: Clinical decision support with a comprehensive in-EHR patient tracking system improves genetic testing follow up. J Am Med Inform Assoc 30: 1274-1283, Jun 2023.

Pendleton KE, Hernandez-Garcia A, Lyu JM, Campbell IM, Shaw CA, Vogt J, High FA, Donahoe PK, Chung WK, Scott DA.: FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. J Pediatr Genet 13: 29-34, Mar 2023.

Campbell IM, Crowley TB, Jobaliya C, Bailey A, McGinn DE, Gaiser K, Bassett A, Gur RE, Morrow B, Emanuel BS, Franco AT, French D, Zackai EH, McDonald-McGinn DM, Lambert MP.: Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression. Clin Genet 2023.

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 188(12): 3416-3422, Dec 2022 Notes: doi: 10.1002/ajmg.a.62920. Epub 2022 Jul 30.