Selected Publications

Matalon DR, Duker AL, Arriaga TM, Russell K, Rodrigo Mendez H, Bonner DE, MacDonald M, Singer-Berk M, Wojcik M, Pais L, DiTroia S, O’Leary M, Cassini T, Niehaus AD, Kaplan J, Wargowski DS, Smid CJ, Longenecker ED, Maria Rodriguez Barreto A, Miller DE, Keefe A, Tekin M, Bivona SA, Vora NL, Gilmore KL, Khan TN, Davis EE, W Wang A, Khan S, Maddirevula S, AlAbdi L, Abuyousef O, Shamseldin HE, Alkhalifi S, Alhumaidi ZA, Seba N, Al Hashem AM, Bernstein JA, Montgomery SB, Wheeler MT, Alkuraya FS, O’Donnell-Luria A, Jackson AP, Ganesh VS, Campbell IM, Robertson N, Lemire G.: RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort. Genet Med 2026.

Quan M. Nguyen, Fangyi Chen, Cong Liu, Ian M. Campbell, Gongbo Zhang, Da Wu, Katherine M. Szigety, Sarah E. Sheppard, Priyanka Ahimaz, Casey N. Ta, Wendy K. Chung, Chunhua Weng, Kai Wang: Interpretable Fine-tuned Large Language Models Facilitate Making Genetic Test Decisions for Rare Diseases. NPJ Digit Med 2026.

Weissenbacher D, Zhao X, Priestley JRC, Szigety KM, Schmidt SF, O’Connor K, Soysal E, Roberts K, Qi J, Luo L, Yang Z, Lin H, Kim H, Kim C, Sohn J, Beck T, Rei M, Kim S, Simpson TI, M J.Posma, Lain A, Sung M, Kang J, Alhassan A, Schlegel V, Aloud M, Batista-Navarro R, Nenadic G, Lin Y, Feng Z, Kao H, Campbell IM*, Gonzalez-Hernandez G*: Automatic Genetic Phenotype Normalization from Dysmorphology Physical Examinations: An overview of the BioCreative VIII: Task 3 Competition. Database 18(1): baaf051, Jan 2025.

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, CA 2025 Notes: Poster.

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, CA 2025 Notes: Poster.

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, CA 2025 Notes: Poster.

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(7): 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, Canada 2024 Notes: Poster.

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(8): 1274-1283, Jun 2023.