Publications

 

  1. Leung, C, Rosenweig, S, Yoon, B, Marinelli, NA, Hollingsworth, EW, Maguire, AM, Cowen, MM, Schmidt, M, Imitola, J, Gamsiz Uzun, ED#, Lizarraga, SB# “Dysregulation of the chromatin environment leads to differential alternative splicing as a mechanism of disease in a human model of Autism Spectrum Disorder”, Accepted to Human Molecular Genetics, 2023
  2. De Souza, A, Charissa, C, Mega, AE, Douglass J, Olszewski A, Gamsiz Uzun ED, Uzun A, Duan F, Wang J, Amin A, Golijanin D, Holder S, Lagos G, Safran H, El-Deiry WS, Carneiro BA “Clinical features of patients with MTAP-deleted bladder cancer”, Accepted to American Journal of Cancer Research, 2023
  3. Lai, J, Yang J, Gamsiz Uzun ED, Rubenstein, B, Sarkar, IN, “LYRUS: A Machine Learning Model for Predicting the Pathogenicity of Missense Variants”, Bioinformatics Advances, 2021
  4. Brodsky, AS, Khurana, J, Guo, KS, Wu, EY, Yang, D,  Siddique, AS, Wong, IY, Gamsiz Uzun, ED, Resnick, MB, Somatic Mutations in Collagens are Associated with a Distinct Tumor Environment and Overall Survival in Gastric Cancer, BMC Cancer, 2021
  5. Lizarraga, SB, Maguire AM, Ma L, van Dyck, LI, Wu, Q, Nagda, D, Livi, LL, Pescosolido, MF, Schmidt, M, Alabi, S, Cowen, MH, Brito-Vargas, P, Hoffman-Kim, D, Gamsiz Uzun, ED, Schlessinger, A, Jones, RN, Morrow, EM, “Human neurons from Christianson syndrome iPSCs reveal allele-specific responses to rescue strategies”, Science Translational Medicine, 2021, 13(580), PMID: 33568516
  6. Howard, M, Kane, B, Lepry, M, Stey, P, Ragevandran, A, Gamsiz Uzun, ED, “VarStack: a web tool for data retrieval to interpret somatic variants in cancer”, Database, 2020, Volume 2020. PMID: 33247936
  7. McCormick, CEB,  Kavanaugh , BC, , Sipsock, D, Righi, G, Oberman, LM, Moreno De Luca, D, Gamsiz Uzun,  ED, Best, CR, Jerskey, BA, Quinn, JG, Jewel, SB, Wu, PC, McLean, RL, Levine, TP, Tokadjian, H, Perkins, KA,  Clarke, EB, Dunn, B, Gerber , AH, Tenenbaum, EJ,  Anders, TF, Rhode Island Consortium for Autism Research and Treatment (RI-CART), Sheinkopf, SJ and Morrow, EM, “Autism Heterogeneity in a Densely Sampled U.S. Population: Results From the First 1,000 Participants in the RI‐CART Study”, Autism Research, 2020 Mar;13(3):474-488. PMID:31957984
  8. Von Werra, L, Schongens, M, Gamsiz Uzun, ED, Eickhoff, C, “Generative adversarial networks in precision oncology”, ICTIR 2019 Meeting Proceedings, Short Paper
  9. Xu, M, Ouyang, Q, Gong, J, Pescosolido, MF, Pruett, BS, Mishra, S, Schmidt, M, Jones, RN, Gamsiz Uzun, ED, Lizarraga, SB, Morrow, EM, “Mixed neurodevelopmental and neurodegenerative pathology in Nhe6-null mouse model of Christianson syndrome”, eNeuro 2017, 4(6).
  10. Gamsiz ED, Sciarra LN, Maguire AM, Pescosolido MF, van Dyck LI, Morrow EM, “Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms”, Neurotherapeutics, 2015 Jul;12(3):553-71. PMID: 26105128
  11. Harrison, AJ, Gamsiz, ED, Berkowitz, IC, Nagpal, S, Jerskey, BA, “Genetic Variation in the Oxytocin Receptor Gene is Associated with a Social Phenotype in Autism Spectrum Disorders, American Journal of Medical Genetics B: Neuropsychiatric Genetics 2015, 168(8). PMID: 26365303
  12. Gamsiz, ED, Viscidi, EW, Nagpal, S, Sanders, SJ, Murtha, MT, Simons Simplex Collection Genetics Consortium, Istrail, S, Triche, EW, State, MW, Cook Jr, EH, Devlin, B Morrow, EM,
    “Intellectual Disability is Associated with Increased Runs of Homozygosity in Simplex Autism”, American Journal of Human Genetics 2013, 93(1):103-109. PMID: 23830515; PMC3710760
  13. Pescosolido M, Schwede, M, Ashley, J, Schmidt, M, Gamsiz, ED, Phornphutkul, C, Morrow, EM, “Expansion of the Clinical Phenotype Associated with Mutations in Activity- Dependent Neuroprotective Protein”, Journal of Medical Genetics 2014, 51(9):587-9, PMID: 25057125; PMC4135390
  14. Pescosolido, MF, Gamsiz ED, Nagpal, S, Morrow, EM, “Distribution of Disease- associated Copy Number Variants Across Distinct Disorders of Cognitive Development”. Journal of American Academy of Child and Adolescent Psychiatry 2013, 52(4):414-430. PMID: 23582872; PMC3774163
  15. Gamsiz, ED, Ouyang, Q, Schmidt, M, Nagpal, S, Morrow, EM, “Genome-wide Transcriptome Analysis in Murine Neural Retina Using High-throughput RNA Sequencing”, Genomics 2012, 99(1):44-51. PMID:22032952; PMC3392719
  16. Gamsiz, ED, Thombre, A, Ahmed, I, Carrier, RL, “Model Predicting Impact of Complication with Cyclodextrins on Oral Absorption”. Biotechnology and Bioengineering 2013, 110(9);2536-47. PMID:23592239
  17. Gamsiz, ED, Thombre, A, Ahmed, I, Carrier, RL, “Drug Salts and Solubilization: Modeling the Influence of Cyclodextrins on Oral Absorption”, Annuals of Biomedical Engineering
    2011, 39(1);455-68 PMID: 20960062
  18. Gamsiz, ED, Ashtikar, M, Crison, J, Woltosz, W, Carrier, RL “Predicting the Effect of Fed State Intestinal Contents on Drug Dissolution”, Pharmaceutical Research 2010, 27(12):2646-56. PMID:20963629
  19. Gamsiz, ED, Thombre, A, Miller, LA, Ahmed, I, Carrier, RL “Modeling the Influence of Cyclodextrins on Oral Absorption of Insoluble Drugs: 1. Model Development, Biotechnology and Bioengineering 2010, 105(2):409-420. PMID: 19725042
  20. Gamsiz, ED, Thombre, A, Miller, LA, Ahmed, I Carrier, RL, “Modeling the Influence of Cyclodextrins on Oral Absorption of Insoluble Drugs: 2. Model Validation, Biotechnology and Bioengineering 2010, 105(2):421-430. PMID: 197250431
  21. Gamsiz, ED, Shah, L, Amiji, M, Carrier, RL, “A Model Predicting Delivery of Saquinavir in Nanoparticles to Human Monocyte/macrophage (Mo/Mac) cells”, Biotechnology and Bioengineering 2008, 101(5):1072-1082. PMID: 18553495