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Publications

Healthcare provider recognition of pregnancy related risks and management considerations in patients with tuberous sclerosis complex. Rose, M; Ritter, D; Gupta, N; Tolusso, L; Horn, P; Wakefield, E; Glass, J. Orphanet Journal of Rare Diseases. 2024; 19(1):4.

P233: PKD1 hypomorphic variant in a girl with tuberous sclerosis complex and polycystic kidneys. Glass, J; Liu, J; Indugula, S; Krueger, D; Ritter, D. Genetics in Medicine Open. 2024; 2:101129.

Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center. Du, X; Glass, JE; Balow, S; Dyer, LM; Rathbun, PA; Guan, Q; Liu, J; Wu, Y; Dawson, DB; Walters-Sen, L; Smolarek, TA; Zhang, W. Journal of Autism and Developmental Disorders. 2022; 52(11):4828-4842.

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines. Li, M; Glass, J; Du, X; Dubbs, H; Harr, MH; Falk, M; Smolarek, T; Hopkin, RJ; Zackai, E; Sheppard, SE. American Journal of Medical Genetics, Part A. 2021; 185(8):2374-2383.

RHOA signaling defects result in impaired axon guidance in iPSC-derived neurons from patients with tuberous sclerosis complex. Catlett, TS; Onesto, MM; Mccann, AJ; Rempel, SK; Glass, J; Franz, DN; Gómez, TM. Nature Communications. 2021; 12(1):2589.

Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex. Tian, X; Glass, JE; Kwiatkowski, DJ; Towbin, AJ; Li, Y; Sund, KL; Krueger, DA; Franz, DN; Mccormack, FX; Gupta, N. Annals of the American Thoracic Society. 2021; 18(5):815-819.

Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Schuurs-Hoeijmakers, JHM; Landsverk, ML; Foulds, N; Kukolich, MK; Gavrilova, RH; Greville-Heygate, S; Hanson-Kahn, A; Bernstein, JA; Glass, J; Chitayat, D; De Vries, BBA; Devriendt, K; Hurles, ME; Brunner, HG. American Journal of Medical Genetics, Part A. 2016; 170(3):670-675.

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. Tyburczy, ME; Dies, KA; Glass, J; Camposano, S; Chekaluk, Y; Thorner, AR; Lin, L; Krueger, D; Franz, DN; Thiele, EA; Sahin, M; Kwiatkowski, DJ. PLoS Genetics. 2015; 11(11):e1005637.

Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Northrup, H; Krueger, DA. Pediatric Neurology. 2013; 49(4):243-254.

Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Krueger, DA; Northrup, H. Pediatric Neurology. 2013; 49(4):255-265.

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