Brooks D, Burke E, Lee S, Eble TN, O’Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong J, Prat C, Martinez-Monseny AF, Palau F, Liu P, Adams DR, Undiagnosed Diseases Network, Lalani S, Rosenfeld JA, Burrage LC. (2024). Heterozygous MAP3K20 Variants Cause Ectodermal Dysplasia, Craniosynostosis, Sensorineural Hearing Loss, and Limb Anomalies. Human Genetics. In press.
Stroup BM, Li X, Ho S, Zhouyao H, Chen Y, Ani S, Dawson B, Jin Z, Marom R, Jiang MM, Lorenzo I, Rosen D, Lanza D, Aceves N, Koh S, Seavitt JR, Heaney JD, Lee B, Burrage LC. (2023). Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance. Dis Model Mech. Aug 1;16(8):dmm050118.
Keehan L, Haviland I, Gofin Y, Swanson LC, El Achkar CM, Schreiber J, VanNoy GE, O'Heir E, O'Donnell-Luria A, Lewis RA, Magoulas P, Tran A, Azamian MS, Chao HT, Pham L, Samaco RC, Elsea S, Thorpe E, Kesari A, Perry D, Lee B, Lalani SR, Rosenfeld JA, Olson HE, Burrage LC; Undiagnosed Diseases Network. (2022). Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. American Journal of Medical Genetics Part A. Dec;188(12):3516-3524.
Merriweather A, Murdock DR, Rosenfeld JA, Dai H, Ketkar S, Emrick L, Nicholas S, Lewis RA; Undiagnosed Diseases Network, Bacino CA, Scott DA, Lee B, Sutton VR, Potocki L, Burrage LC. (2022). A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. American Journal of Medical Genetics Part A. 188(7):2198-2203. PMC9197987.
Nagamani SCS, Ali S, Izem R, Schady D, Masand P, Shneider BL, Leung DH, Burrage LC. Biomarkers for Liver Disease in Urea Cycle Disorders. (2021). Mol Genet Metab. S1096-7192(21)00685-5.
Keehan L, Jiang M, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS, Undiagnosed Diseases Network, Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. (2021). A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. American Journal of Medical Genetics Part A. 185(8):2315-2324. PMID: 33949769.
Stroup BM, Marom R, Li X, Hsu C, Chang C, Truong LD, Dawson B, Grafe I, Chen Y, Jian M, Lanza D, Green JR, Sun Q, Barrish JP, Ani S, Christiansen AE, Seavitt JR, Dickinson ME, Kheradmand F, Heaney JD, Lee B, Burrage LC. (2020). A Global Slc7a7 Knockout Mouse Model Demonstrates Characteristic Phenotypes of Human Lysinuric Protein Intolerance. Human Molecular Genetics. 29(13):2171-2184. PMID: 32504080.
Burrage LC, Madan S, Li X, Ali S, Mohammad M, Stroup BM, Jiang M, Cela R, Bertin T, Dai J, Guffey D, Finegold M, Members of the Urea Cycle Disorders Consortium, Nagamani S, Minard CG, Marini J, Masand P, Schady D, Shneider BL, Leung DH, Bali D, Lee B. (2020). Chronic Liver Disease and Impaired Hepatic Glycogen Metabolism in Argininosuccinate Lyase Deficiency. JCI Insight. 5(4):e132342. PMID: 31990680.
Pillai NR*, Stroup BM*, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LC. (2019). Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review. Mol Genet Metab. 128:431-443. PMID: 31757659. *co-first authors
Burrage LC, Thistlethwaite, L, Stroup BM, Sun, Q, Miller, MJ, Nagamani, SCS, Craigen W, Scaglia, F, Sutton VR, Graham B, Kennedy AD, Members of the UCDC, Milosavljevic A, Lee BH, Elsea SH. (2019). Untargeted Metabolomic Profiling Reveals Multiple Pathway Perturbations and New Clinical Biomarkers in Urea Cycle Disorders. Genet Med. 21:1977-1986. PMID: 30670878.
Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry D, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng C, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS, University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, Bertola D, Yamamoto G, Baratela WAR, Butler M, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. (2019). Biallelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 104:422-438. PMID: 30773277.
