Selected Publications

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.

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: 100931, Nov 2022.

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.

Campbell IM, Crowley TB, Jobaliya C, Bailey A, McGinn DE, Gaiser KB, Bassett A, Gur RE, Morrow B, Emanuel BS, Franco A, French D, Zackai EH, McDonald-McGinn DM, Lambert MP: Platelet findings in 22q11.2 DS correlate with disease manifestations but are not due to GP1b surface expression. Clin Genet 103(1): 109-113, Sept 2022 Notes: doi: 10.1111/cge.14227.

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.

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.

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.

Campbell IM, Magge A, Priestley JRC, Szigety KM, Schmidt SF, McManus ML, Sheppard SE, Louries EM, Luberti AA, Muthu N, Hakonarson H, Gonzalez-Hernandez G: A dysmorphology physical examination entry system facilitates structured genetic phenotype capture and natural language processing. American Society of Human Genetics Conference, Las Angeles, CA 2022 Notes: Poster.

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.

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.