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.