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Page 1
Lung Epithelium Releases Growth Differentiation Factor 15 in Response to Pathogen-mediated Injury.
Shah FA, Bahudhanapati H, Jiang M, Tabary M, van der Geest R, Tolman NJ, Kochin M, Xiong Z, Al-Yousif N, Sayed K, Benos PV, Raffensperger K, Evankovich J, Neal MD, Snyder ME, Eickelberg O, Ray P, Dela Cruz C, Bon J, McVerry BJ, Straub AC, Jurczak MJ, Suber TI, Zhang Y, Chen K, Kitsios GD, Lee JS, Alder JK, Bain WG. Shah FA, et al. Among authors: tolman nj. Am J Respir Cell Mol Biol. 2024 Feb 1. doi: 10.1165/rcmb.2023-0429OC. Online ahead of print. Am J Respir Cell Mol Biol. 2024. PMID: 38301257
Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome.
Abudi-Sinreich S, Bodine SP, Yokoyama T, Tolman NJ, Tyrlik M, Testa LC, Han CG, Dorward HM, Wincovitch SM, Anikster Y, Gahl WA, Cinar R, Gochuico BR, Malicdan MCV. Abudi-Sinreich S, et al. Among authors: tolman nj. Respir Res. 2022 May 4;23(1):112. doi: 10.1186/s12931-022-02002-z. Respir Res. 2022. PMID: 35509004 Free PMC article.
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
Stephen J, Yokoyama T, Tolman NJ, O'Brien KJ, Nicoli ER, Brooks BP, Huryn L, Titus SA, Adams DR, Chen D, Gahl WA, Gochuico BR, Malicdan MC. Stephen J, et al. Among authors: tolman nj. PLoS One. 2017 Mar 15;12(3):e0173682. doi: 10.1371/journal.pone.0173682. eCollection 2017. PLoS One. 2017. PMID: 28296950 Free PMC article.
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members; Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV. Stephen J, et al. Among authors: tolman nj. Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001. Am J Hum Genet. 2018. PMID: 30526868 Free PMC article.
Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV. Stephen J, et al. Among authors: tolman nj. Hum Genet. 2018 Apr;137(4):293-303. doi: 10.1007/s00439-018-1882-3. Epub 2018 Apr 24. Hum Genet. 2018. PMID: 29691655 Free PMC article.