Stewart R, Ezell KM, Bell DS, Corner B, McMinn A, Cogan JD, Hamid R, Rives L, Phillips JA 3rd, Paddu N, Srivastava G, Marom R, Ladha FA, Soler-Alfonso C, Franciskovich R, Koziura M, Pruthi S, Richard G, Sheedy CB; Undiagnosed Diseases Network; Cassini T. Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism. Am J Med Genet A. 2025 Aug 21:e64233. doi: 10.1002/ajmg.a.64233. Epub ahead of print. PMID: 40838347.
Perera BLA, Stewart R, Furuta Y, Ezell KM, Rives L, Nunley B, McMinn A, Krokosky A, Neumann S, Koziura ME; Undiagnosed Diseases Network; Hamid R, Cogan JD, Cassini TA, Gamazon ER, Phillips Iii JA, Tinker RJ. First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene. Neurogenetics. 2025 Aug 11;26(1):61. doi: 10.1007/s10048-025-00835-6. PMID: 40788430; PMCID: PMC12339610.
Tinker RJ, Smith LM, Bastarache LA, Ezell KM, Furuta Y, Hamid R, Cogan JD, Phillips JA 3rd, Joos KM; Undiagnosed Diseases Network. The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas. Am J Ophthalmol. 2025 Aug 6;280:51-63. doi: 10.1016/j.ajo.2025.07.028. Epub ahead of print. PMID: 40780579.
Shyr C, Cassini TA, Tinker RJ, Byram KW, Embí PJ, Bastarache L, Peterson JF, Xu H, Hamid R; Undiagnosed Diseases Network. Large Language Models for Rare Disease Diagnosis at the Undiagnosed Diseases Network . JAMA Netw Open. 2025 Aug 1;8(8):e2528538. doi: 10.1001/jamanetworkopen.2025.28538. PMID: 40844783; PMCID: PMC12374213.
Silverstein S, Cassini T, Fu J, Pusey B, Macnamara E, Frost FG, Williams C, Huang Y, Tifft CJ; Undiagnosed Diseases Network; Gahl W, Malicdan MC, Adams DR. RNA sequencing-driven diagnosis expands the phenotypic spectrum of NBAS deficiency. Mol Genet Metab. 2025 May;145(1):109105. doi: 10.1016/j.ymgme.2025.109105. Epub 2025 Apr 7. PMID: 40215727; PMCID: PMC12094424
Cassini T, Silverstein S, Behan M, Tifft CJ, Malicdan MC, Adams DR; Undiagnosed Diseases Network; Ahn SY, Regier DS. Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing. JIMD Rep. 2024 Dec 16;66(1):e12459. doi: 10.1002/jmd2.12459. PMID: 39723123; PMCID: PMC11667764.
Furuta Y, Tinker RJ, Hamid R, Cogan JD, Ezell KM, Oglesbee D, DeBerardinis RJ, Phillips JA 3rd; Undiagnosed Diseases Network. A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases. Orphanet J Rare Dis. 2024 Nov 14;19(1):427. doi: 10.1186/s13023-024-03423-3. PMID: 39543639; PMCID: PMC11566889.
Ezell KM, Furuta Y, Oglesbee D, Pivnick EK, Rinker D, Sheehan JH, Tinker RJ, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Koziura M, Phillips JA 3rd; Undiagnosed Diseases Network. Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition. Mol Genet Metab Rep. 2024 Oct 5;41:101145. doi: 10.1016/j.ymgmr.2024.101145. PMID: 39435313; PMCID: PMC11491968.
Gimeno AF, Tinker RJ, Furuta Y; Undiagnosed Diseases Network; Phillips JA 3rd. Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network. Am J Med Genet A. 2025 Feb;197(2):e63888. doi: 10.1002/ajmg.a.63888. Epub 2024 Sep 27. PMID: 39333051.
Ezell, K. M., Tinker, R. J., Furuta, Y., Gulsevin, A., Bastarache, L., Hamid, R., Cogan, J.D., Rives, L., Neumann, S., Corner, B., Koziura, M., Phillips, J.A. III the Undiagnosed Diseases Network (2024). Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant. American Journal of Medical Genetics Part A, e63597. doi:10.1002/ajmg.a.63597
Berger SM, Appelbaum PS, Siegel K, Wynn J, Saami AM, Brokamp E, O’Connor BC, Hamid R, Martin DM, Chung WK. Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines. Genet Med. 2022 Jun 29;. doi: 10.1016/j.gim.2022.06.002. [Epub ahead of print] PubMed PMID: 35767006.
Schuler BA, Nelson ET, Koziura M, Cogan JD, Hamid R, Phillips JA 3rd. Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases. J Clin Invest. 2022 Apr 1;132(7). doi: 10.1172/JCI154942. Review. PubMed PMID: 35362483; PubMed Central PMCID: PMC8970663.
Dai H, Zhu W, Yuan B, Walley N, Schoch K, Jiang YH, Phillips JA, Jones MS, Liu P, Murdock DR, Burrage LC, Lee B, Rosenfeld JA, Xiao R; Undiagnosed Diseases Network. A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay. Hum Mutat. 2022 Dec;43(12):1816-1823. doi: 10.1002/humu.24497. Epub 2022 Nov 6.PMID: 36317458.
Puurunen MK, Vockley J, Searle SL, Sacharow SJ, Phillips JA 3rd, Denney WS, Goodlett BD, Wagner DA, Blankstein L, Castillo MJ, Charbonneau MR, Isabella VM, Sethuraman VV, Riese RJ, Kurtz CB, Brennan AM. Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study. Nat Metab. 2022 Sep;4(9):1214. doi: 10.1038/s42255-022-00635-4. PMID: 34294923
Mukherjee S, Cassini TA, Hu N, Yang T, Li B, Shen W, Moth CW, Rinker DC, Sheehan JH, Cogan JD; Undiagnosed Diseases Network; Newman JH, Hamid R, Macdonald RL, Roden DM, Meiler J, Kuenze G, Phillips JA, Capra JA. Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants. HGG Adv. 2022 Jul 19;3(4):100131. doi: 10.1016/j.xhgg.2022.100131. eCollection 2022 Oct 13.PMID: 36035247.