Selected Publications

Lewis ACF, Chisholm RL, Connolly JJ, Esplin ED, Glessner J, Gordon A, Green RC, Hakonarson H, Harr M, Holm IA, Jarvik GP, Karlson E, Kenny EE, Kottyan L, Lennon N, Linder JE, Luo Y, Martin LJ, Perez E, Puckelwartz MJ, Rasmussen-Torvik LJ, Sabatello M, Sharp RR, Smoller JW, Sterling R, Terek S, Wei WQ, Fullerton SM.: Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network. Am J Hum Genet. 111(6): 999-1005, Jun 2024 Notes: doi: 10.1016/j.ajhg.2024.04.005. Epub 2024 Apr 29.

Qu HQ, Glessner JT, Qu J, Liu Y, Watson D, Chang X, Saeidian AH, Qiu H, Mentch FD, Connolly JJ, Hakonarson H.: High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations. Transl Res. 266: 49-56, Apr 2024 Notes: doi: 10.1016/j.trsl.2023.11.004. Epub 2023 Nov 19.

Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E, Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM.: Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 17(1): 62, Mar 2024 Notes: doi: 10.1186/s13104-024-06723-w.

Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn N, Arias J, Belbin G, Below JE, Berndt S, Chung W, Cimino JJ, Clayton EW, Connolly JJ, Crosslin D, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth R, Ge T, Glessner JT, Gordon A, Guiducci C, Hakonarson H, Harden M, Harr M, Hirschhorn J, Hoggart C, Hsu L, Irvin R, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos R, Luo Y, Malolepsza E, Manolio T, Martin LJ, McCarthy L, Meigs JB, Mersha TB, Mosley J, Namjou B, Pai N, Pesce LL, Peters U, Peterson J, Prows CA, Puckelwartz MJ, Rehm H, Roden D, Rosenthal EA, Rowley R, Sawicki KT, Schaid D, Schmidlen T, Smit R, Smith J, Smoller JW, Thomas M, Tiwari H, Toledo D, Vaitinadin NS, Veenstra D, Walunas T, Wang Z, Wei WQ, Weng C, Wiesner G, Xianyong Y, Kenny E.: Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations. Nat Med. 30(2): 480-487, Feb 2024 Notes: doi: 10.1038/s41591-024-02796-z. Epub 2024 Feb 19.

Casillan A, Florido ME, Galarza-Cornejo J, Bakken S, Lynch JA, Chung WK, Mittendorf KF, Berner ES, Connolly JJ, Weng C, Holm IA, Khan A, Kiryluk K, Limdi NA, Petukhova L, Sabatello M, Wynn J.: Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study. J Am Med Inform Assoc. 31(2): 306-316, Jan 2024 Notes: doi: 10.1093/jamia/ocad207.

Abudahab S, Hakooz N, Al-Etian L, Shishani K, Bashqawi A, Connolly J, Glessner JT, Qu HQ, Qu J, Hakonarson H, Dajani R.: The Circassians and the Chechens in Jordan: results of a decade of epidemiological and genetic studies. J Community Genet. 14(6): 505-517, Dec 2023 Notes: doi: 10.1007/s12687-023-00668-6. Epub 2023 Sep 13. Review.

Sleiman PM, Qu HQ, Connolly JJ, Mentch F, Pereira A, Lotufo PA, Tollman S, Choudhury A, Ramsay M, Kato N, Ozaki K, Mitsumori R, Jeon JP, Hong CH, Son SJ, Roh HW, Lee DG, Mukadam N, Foote IF, Marshall CR, Butterworth A, Prins BP, Glessner JT, Hakonarson H.: Trans-ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study. Alzheimers Dement. 19(12): 5765-5772, Dec 2023 Notes: doi: 10.1002/alz.13378. Epub 2023 Jul 14.

Karavite DJ, Connolly JJ, Shannon T, Harr M, Muthu N, Hakonarson H, Grundmeier RW.: System Requirements to Support Primary Care Pediatricians in the Return of Genome Informed Risk Assessments. American Society of Human Genetics, Washington, DC Nov 2023 Notes: Podium.

Linder JE, Tao R, Chung WK, Kiryluk K, Liu C, Weng C, Connolly JJ, Hakonarson H, Harr M, Leppig KA, Jarvik GP, Veenstra DL, Aufox S, Chisholm RL, Gordon AS, Hoell C, Rasmussen-Torvik LJ, Smith ME, Holm IA, Miller EM, Prows CA, Elskeally O, Kullo IJ, Lee C, Jose S, Manolio TA, Rowley R, Padi-Adjirackor NA, Wilmayani NK, City B, Wei WQ, Wiesner GL, Rahm AK, Williams JL, Williams MS, Peterson JF.: Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing. Am J Hum Genet. 110(11): 1950-1958, Nov 2023 Notes: doi: 10.1016/j.ajhg.2023.10.006. Epub 2023 Oct 25.

Ferar K, Hall TO, Crawford DC, Rowley R, Satterfield BA, Li R, Gragert L, Karlson EW, de Andrade M, Kullo IJ, McCarty CA, Kho A, Hayes MG, Ritchie MD, Crane PK, Mirel DB, Carlson C, Connolly JJ, Hakonarson H, Crenshaw AT, Carrell D, Luo Y, Dikilitas O, Denny JC, Jarvik GP, Crosslin DR.: Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection. Sci Rep. 13(1): 19972, Nov 2023 Notes: doi: 10.1038/s41598-023-47359-3.