Selected Publications

Callahan NC, Mahida S, Sveden A, Quinn M, Chopra M, Srivastava S, Brain Gene Registry Consortium: Expansion of the genotypic and phenotypic spectrum of SETD5 disorder using data from the national brain gene registry. Clin Genet 108(3): 279-291, September 2025.

Charng WL, Haller G, Whittle J, Nikolov M, Avery A, Morcuende J, Giampietro P, Raggio C, Miller N, Justice AE, Strande NT, Seeley M, Bodian DL, Wise CA, Sepich DS, Dobbs MB, Gurnett CA: Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis. J Med Genet 62(7), June 2025.

Cole JJ, Sellitto AD, Baratta LR, Heucker JB, Balls-Berry JJE, Gurnett CA.: Social determinants of genetic referral and completion rates among pediatric neurology patients. Pediatr Neurol 165: 78-86, April 2025.

Ng JK, Chen Y, Akinwe TM, Heins HB, Mehinovic E, Chang Y, Gutmann DH, Gurnett CA, Payne ZL, Manual JG, Karchin R, Turner TN: Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer. Cell Genome 5(4): 100807, April 2025.

Kaster L, Hillis E, Oh IY, Aravamuthan BR, Lanzotti CV, Vickstrom CR, Brain Gene Registry Consortium, Gurnett CA, Payne PRB, Gupta A.: Automated extraction of functional biomarkers of verbal and ambulatory ability from multi-institutional clinical notes using large language models. J Neurodev Disord 17(1): 24, April 2025.

Cole JJ, Williams JP, Sellitto AD, Baratta LR, Heucker JB, Baldridge D, Kannampallil T, Gurnett CA, Balls-Berry JE: Association of social determinants of health with genetic test request and completion rates in children with neurologic disorders. Neurology 11(105): e210275, March 2025.

Zerafati-Jahromi G, Oxman E, Hoang HD, Charng WL, Kotla T, Yuan W, Ishibashi K, Sebauoi S, Luedtke K, Winrow B, Ganetzky RD, Ruiz A, Manso-Basuz C, Spartaro N, Kannu P, Athey T, Peroutka C, Barnes C, Sidlow R, Anadiotis G, Magnussen K, Valenzuela I, Moles-Fernandez A, Berger S, Grant CL, Vilain E, Arnadottir GA, Sulem P, Sulem TS, Stefansson K, Massey S, Ginn N, Poduri A, D’Gama AM, Valentine R, Trowbridge SK, Murali CN, Fanciskovich R, Tran Y, Webb BD, Keppler-Noreuil KM, Hall AL, McGivern B, Monaghan KG, Guillen Sacoto MJ, Baldridge D, Silverman GA, Dahiya S, Turner TN, Schedl T, Corbin JG, Pak SC, Zohn IE, Gurnett CA. : Sequence variants in HECTD1 result in a variable neurodevelopmental disorder. Am J Hum Genet 112(3): 537-553, March 2025.

Gurnett, Christina: “WashU School of Medicine study examines disparities in genetic testing in Black children” St Louis Public Radio interview, March 2025.

Gurnett CA, Cooper M. : ICTS Precision Health Facilitates Healing. Mo Med 122(1): 33, January- February 2025.

Pehlivan E, Zempel J, Coble J, Graves S, McEvoy S, Smyth M, Thio KLL, Gurnett C, Roland J, Guerriero RM, Tomko SR: Advanced technology clinic provides personalized approach to pediatric epilepsy surgery: Early data and future directions. Mo Med 122(1): 39-45, January- February 2025.