Ian M. Campbell, MD, PhD

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.

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 103(1): 109-113, Jan 2023 Notes: doi: 10.1111.

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(6): 29-34, Mar 2023.

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.

2022

Szigety KM, Crowley TB, Gaiser KB, Chen EY, Priestley JRC, Williams LS, Rangu SA, Wright CM, Adusumalli P, Ahrens-Nicklas RC, Calderon B, Cuddapah SR, Edmondson A, Ficicioglu C, Ganetzky R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH, Campbell IM*,‡, Sheppard SE*. : Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care. Pediatrics 150(1): e2021054520, Jul 2022 Notes: doi: 10.1542/peds.2021-054520.

Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, Gerard AE, Rosenfeld JA, Sisoudiya SD, Hernandez-Garcia A, Loddo S, Di Tommaso S, Novelli A, Dentici ML, Capolino R, Digilio MC, Graziani L, Rustad CF, Neas K, Ferrero GB, Brusco A, Di Gregorio E, Wellesley D, Beneteau C, Joubert M, Van Den Bogaert K, Boogaerts A, McMullan DJ, Dean J, Giuffrida MG, Bernardini L, Varghese V, L Shannon N, Harrison RE, Lam WWK, McKee S, Turnpenny PD, Cole T, Morton J, Eason J, Jones MC, Hall R, Wright M, Horridge K, Shaw CA, Chung WK, Scott DA: Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Am J Med Genet A 188(10): 2958-2968, Oct 2022 Notes: doi: 10.1002/ajmg.a.62919. Epub 2022 Jul 29.

Priestley JRC, Pace LM, Sen K, Aggarwal A, Alves CAPF, Campbell IM, Cuddapah SR, Engelhardt NM, Eskandar M, Jolín García PC, Gropman A, Helbig I, Hong X, Gowda VK, Lusk L, Trapane P, Srinivasan VM, Suwannarat P, Ganetzky RD.: Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature. Mol Genet Metab Rep 33(2): 100931, Nov 2022.

2021

Walters ME, Bostwick BL, Azamian M, Lacassie Y, Franciskovich R, Zapata G, Hernandez PP, Liu P, Campbell IM, Lalani SR: Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1. Am J Med Genet A 185(3): 916-922, Mar 2021 Notes: doi: 10.1002/ajmg.a.62036.

Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, 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, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, 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. Am J Med Genet A 185(6): 1649-1665, Jun 2021 Notes: doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30.

Gold JI, Campbell IM, Ficicioglu C: Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening. Int J Neonatal Screen 7(3): 38, Jul 2021 Notes: doi: 10.3390/ijns7030038.

Gold NB*, Campbell IM*, Sheppard SE, Tan WH: Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization. Sci Rep 11(1): 19791, Oct 2021 Notes: doi: 10.1038/s41598-021-98752-9.

Crowley TB, Campbell IM, Liebling EJ, Lambert MP, Levitt Katz LE, Heimall J, Bailey A, McGinn DE, McDonald McGinn DM, Sullivan KE: Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases. J Allergy Clin Immunol 149(1): 445-450, Jan 2022 Notes: doi:10.1016/j.jaci.2021.06.007. Epub 2021 Jun 16.

Scott TM, Campbell IM, Hernandez-Garcia A, Lalani SR, Liu P, Shaw CA, Rosenfeld JA, Scott DA: Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. J Med Genet 59(3): 270-278, Mar 2022 Notes: doi: 10.1136/jmedgenet-2020-107317. Epub 2021 Jan 18.

2018

Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA2, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM1, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM. 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. doi: 10.1002/ajmg.a.40637.

2017

Liu P, Yuan B, Carvalho CM, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, Gonzaga-Jauregui C, Wiszniewska J, Scull J, Stankiewicz P, Jhangiani SN, Muzny DM, Zhang F, Chen K, Gibbs RA, Rautenstrauss B, Cheung SW, Smith J, Breman A, Shaw CA, Patel A, Hurles ME, Lupski JR. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 Feb 23;168(5):830-842

2016

James RA, Campbell IM, Chen ES, Boone PM, Rao MA, Bainbridge MN, Lupski JR, Yang Y, Eng CM, Posey JE, Shaw CA. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med. 2016 Feb 2;8(1):13

Campbell IM, Gambin T, Jhanghiani S, Grove ML, Veeraraghavan N, Muzny D, Shaw CA, Gibbs RA, Boerwinkle E, Yu F, Lupski JR. Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum. Mutat. 2016 Mar;37(3):231-234

2015

Yuan B, Liu P, Gupta A, Beck CR, Tejomurtula A, Campbell IM, Gambin T, Simmons AD, Withers MA, Harris RA, Rogers J, Schwartz DC, Lupski JR. Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS Genet. 2015 Dec 7;11(12):e1005686

Yuan B, Liu P, Gupta A, Beck CR, Tejomurtula A, Campbell IM, Gambin T, Simmons AD, Withers MA, Harris RA, Rogers J, Schwartz DC, Lupski JR. Comparative genomic analyses of the human NPHP1 locus reveal complex genomic architecture and its regional evolution in primates. PLoS Genetics. 2015 Dec 7;11(12):e1005686

Karaca E, Harel T, Pehlivan D, Jhangiani S, Gambin T, Akdemir ZC, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Bozdogan ST, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Gulec EY, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz B, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim S, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Yuksel A, Ozen M, Muzny D, Gahl WA, Boerwinkle E, Chung EK, Gibbs RA, Lupski JR. Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease. Neuron. 2015 Nov 4;88(3):499-513

Mayle R, Campbell IM, Beck CR, Yu Y, Wilson M, Shaw CA, Bjergbaek L, Lupski JR, Ira G. DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage. Science. 2015 Aug 14;349(6249):742-7

Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E. Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med. 2015 Jun 13;7(1):54.

Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 Jul 15;24(14):4061-77

Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Somatic Mosaicism: Implications for Disease and Transmission Genetics. Trends Genet. 2015 Jul;31(7):382-92

Shaw CA and Campbell IM. Variant interpretation through Bayesian fusion of frequency and genomic knowledge. Genome Med. 2015 Jan 28;7(1):4.

Startek M, Szafranski P, Gambin T, Campbell IM, Hixson P, Shaw CA, Stankiewicz P, Gambin A. Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination. Nucleic Acids Res. 2015 Jan 22;:gku1394.

2014

Campbell IM*, Dittwald P*, Gambin T*, Beck CR, Shuvarikov A, Hixson P, Patel A, Gambin A, Shaw CA, Rosenfeld JA, Stankiewicz P. Human Endogenous Retroviral Elements Promote Genome Instability via Nonallelic Homologous Recombination. BMC Biology. 2014 Sep 23;12:74 * Equal contribution.

Campbell IM, Stewart JR, James RA, Lupski JR, Stankiewicz P, Olofsson P, Shaw CA. Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am J Hum Genet. Oct 2;95(4):345-59.

Campbell IM*, James RA*, Chen ES, Shaw CA. NetComm: a network analysis tool based on communicability. Bioinformatics. 2014 Aug 13. 2014 Aug 13. pii: btu536.

Campbell IM*, Yuan B*, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SCS, Erez A, Bartnik M, Wisniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang S-HL, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung S-W, Shaw CA, Vissers LELM, Vermeesch JR, Lupski JR, Stankiewicz P. Parental Somatic Mosaicism Is Under-recognized and Influences Recurrence Risk of Genomic Disorders. Am J Hum Genet. 2014 Aug 7;95(2):173–82. PMCID: PMC4129404

Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong M-W, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido M-J, Stemmler S, Lupski JR. The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles. Am J Hum Genet. 2014 Aug 7;95(2):143-61. PMCID: PMC4129405

Bayer D, Martinez C, Sorte H, Forbes L, Demmler-Harrison G, Hanson I, Pearson N, Noroski L, Bellini W, Leduc M, Yang Y, Eng C, Patel A, Rodningen O, Muzny D, Gibbs R, Campbell IM, Baker M, Zhang V, Lupski J, Orange J, Seeborg F, Stray-Pedersen A. Vaccine-Associated Varicella and Rubella Infections In Severe Combined Immunodeficiency with Isolated CD4 Lymphocytopenia and Mutations in IL7R Detected by Tandem Whole Exome Sequencing and Chromosomal Microarray. Clin. Exp. Immunol. 2014 Jul 21.

Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M, Baylor Hopkins Center for Mendelian Genomics, Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24;157(3):636–50. PMCID: PMC4146440

2013

Gonzaga-Jauregui C, Lotze T, Jamal L, Penney S, Campbell IM, Pehlivan D, Hunter JV, Woodbury SL, Raymond G, Adesina AM, Jhangiani SN, Reid JG, Muzny DM, Boerwinkle E, Lupski JR, Gibbs RA, Wiszniewski W. Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec;70(12):1491–8. PMCID: PMC4039291

Harrison SM*, Campbell IM*, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA. Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. Am J Med Genet A. 2013 Oct;161(10):2487–94. PMCID: PMC3788034

Shuvarikov A*, Campbell IM*, Dittwald P, Neill NJ, Bialer MG, Moore C, Wheeler PG, Wallace SE, Hannibal MC, Murray MF, Giovanni MA, Terespolsky D, Sodhi S, Cassina M, Viskochil D, Moghaddam B, Herman K, Brown CW, Beck CR, Gambin A, Cheung S-W, Patel A, Lamb AN, Shaffer LG, Ellison JW, Ravnan JB, Stankiewicz P, Rosenfeld JA. Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays. Hum. Mutat. 2013 Oct;34(10):1415–23.

Campbell IM, Rao M, Arredondo SD, Lalani SR, Xia Z, Kang S-HL, Bi W, Breman AM, Smith JL, Bacino CA, Beaudet AL, Patel A, Cheung S-W, Lupski JR, Stankiewicz P, Ramocki MB, Shaw CA. Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy. PLoS Genet. 2013 Sep;9(9):e1003797. PMCID: PMC3784560

Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RLP, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AIA, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, et al. TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities. Am J Hum Genet. 2013 Jun 26. PMCID: PMC3738832

Boone PM, Campbell IM, Baggett BC, Soens ZT, Rao MM, Hixson PM, Patel A, Bi W, Cheung S-W, Lalani SR, Beaudet AL, Stankiewicz P, Shaw CA, Lupski JR. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 May 16. PMCID: PMC3759716

2012

Chotewutmontri P, Reddick LE, McWilliams DR, Campbell IM, Bruce BD. Differential Transit Peptide Recognition During Preprotein Binding and Translocation into Chloroplasts. Plant Cell 2012 Jul;24(7):3040-59 PMCID: PMC3426131

Campbell IM*, Yatsenko SA*, Hixson P, Reimschisel T, Thomas M, Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, Parkinson N, Fishman L, Riviello JJ, Nowaczyk MJM, Zeesman S, Rosenfeld JA, Bejjani BA, Shaffer LG, Cheung S-W, Lupski JR, Stankiewicz P, Scaglia F. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med. 2012 Oct;14(10):868–76. PMCID: PMC3713627

Boone PM, Soens ZT, Campbell IM, Stankiewicz P, Cheung S-W, Patel A, Beaudet AL, Plon SE, Shaw CA, McGuire AL, Lupski JR. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2012 Aug 9. PMCID: PMC3705759

2011

Campbell IM, Kolodziejska KE, Quach MM, Wolf VL, Cheung S-W, Lalani SR, Ramocki MB, Stankiewicz P. TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly. Am J Med Genet A. 2011 Jun;155(6):1442–7. PMCID: PMC3646644

2007

Reddick LE, Vaughn MD, Wright SJ, Campbell IM, Bruce BD: In vitro comparative kinetic analysis of the chloroplast Toc GTPases.  J Bio Chem 2007; 15: 11410-26

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, 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.

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.

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.

2025

Campbell IM. "Training a General-Purpose Pediatric AI Medical Assistant", Google NEXT, Las Vegas, NV. Apr 2025.

Campbell IM. "Using Large Language Models to Understand Child Health and Rare Disease", Frontiers in Pediatric Genomic Medicine, San Diego, CA. Apr 2025.

Campbell IM. "Large Language Models with Health System Scale Patient Knowledge," Amazon Web Services, Seattle WA. Jan 2025.

Campbell IM. "Large Language Models with Health System Scale Patient Knowledge," Microsoft Corporation, Seattle WA. Jan 2025.

2024

Campbell IM. "Intervening in the Electronic Health Record to Improve the Care of Children with Rare Genetic Disease," Children's Hospital of Atlanta, Atlanta, GA. Sept 2024.

Campbell IM. "Intervening in the Electronic Health Record to Improve the Care of Children with Rare Genetic Disease," Emory University, Atlanta, GA. Sept 2024.

Campbell IM. "Intervening in the Electronic Health Record to Improve the Care of Children with Rare Genetic Disease," Children's Hospital of Los Angeles, Los Angeles, CA. Aug 2024.

Campbell IM. "Training LLMs on a 134 Million Clinical Note Corpus", Cedars-Sinai Medical Center, Los Angeles, CA. Aug 2024.

Campbell IM. "Germline Mendelian Disease Data", NHGIR Genomics Data Workshop, Washington DC. Apr 2024.

2023

Campbell IM. "BioCreative VIII Challenge and Workshop: Track 3 - Phenotype Normalization", American Medical Informatics Association Annual Meeting, New Orleans, LA. Nov 2023.

Campbell IM. "Implementation of Precision Medicine for Rare Genetic Disease in the EHR of a Large Academic Pediatric Health System", Boston Children's Hospital, Boston, MA. May 2023.

Campbell IM. "Empowering Clinicians with Accessible Precision Genomic Medicine", Epic XGM, Verona, WI. Mar 2023.

Campbell IM. "Unlocking the EHR to Improve Diagnosis and Care of Patients with Genetic Disease", University of Michigan, Ann Arbor, MI. Mar 2023.

2022

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.

2020

Campbell IM*, Congdon M*, Capucilli PS, Fox WW: A Not So Common Infection in an Extremely Low-Birth-Weight Infant. Clin Pediatr (Phila) 59(11): 1040-1042, Oct 2020 Notes: doi: 10.1177/0009922820927031.

2018

Campbell IM*, Sheppard SE*, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM: 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 176(10): 2058-2069, Oct 2018 Notes: doi: 10.1002/ajmg.a.40637.

2015

Shaw CA, Campbell IM: Variant interpretation through Bayesian fusion of frequency and genomic knowledge. Genome Med 7(1): 4, Jan 2015 Notes: doi: 10.1186/s13073-015-0129-3. eCollection 2015.