Sargolzaeiaval F, Zhang J, Schleit J, Lessel D, Kubisch C, Precioso DR, Sillence D, Hisama FM, Dorschner M, Martin GM, Oshima J. CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.Sargolzaeiaval F, Zhang J, Schleit J, Lessel D, Kubisch C, Precioso DR, Sillence D, Hisama FM, Dorschner M, Martin GM, Oshima J. CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures. Mol Genet Genomic Med 2018; 6(6):1148-1156 PMID: 30393977
Horvath S, Oshima J, Martin GM, Lu AT, Quach A, Cohen H, Felton S, Matsuyama M, Lowe D, Kabacik S, Wilson JG, Reiner AP, Maierhofer A, Flunkert J, Aviv A, Hou L, Baccarelli AA, Li Y, Stewart JD, Whitsel EA, Ferrucci L, Matsuyama S, Raj K. Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies.Horvath S, Oshima J, Martin GM, Lu AT, Quach A, Cohen H, Felton S, Matsuyama M, Lowe D, Kabacik S, Wilson JG, Reiner AP, Maierhofer A, Flunkert J, Aviv A, Hou L, Baccarelli AA, Li Y, Stewart JD, Whitsel EA, Ferrucci L, Matsuyama S, Raj K. Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies. Aging (Albany NY) 2018 Jul 26;10(7):1758-1775 PMCID: PMC6075434
Mori T, Yousefzadeh MJ, Faridounnia M, Chong JX, Hisama FM, Hudgins L, Mercado G, Wade EA, Barghouthy AS, Lee L, Martin GM, Nickerson DA, Bamshad MJ, Niedernhofer LJ, Oshima J. ERCC4 Variants Identified in a Cohort of Patients with Segmental Progeroid Syndromes.Mori T, Yousefzadeh MJ, Faridounnia M, Chong JX, Hisama FM, Hudgins L, Mercado G, Wade EA, Barghouthy AS, Lee L, Martin GM, Nickerson DA, Bamshad MJ, Niedernhofer LJ, Oshima J. ERCC4 Variants Identified in a Cohort of Patients with Segmental Progeroid Syndromes. Hum Mutat 2018 Feb;39(2):255-265 PMCID: PMC5762268
Lessel D, Wu D, Trujillo C, Ramezani T, Lessel I, Alwasiyah MK, Saha B, Hisama FM, Rading K, Goebel I, Schütz P, Speit G, Högel J, Thiele H, Nürnberg G, Nürnberg P, Hammerschmidt M, Zhu Y, Tong DR, Katz C, Martin GM, Oshima J, Prives C, Kubisch C. Dysfunction of the MDM2/p53 axis is linked to premature aging.Lessel D, Wu D, Trujillo C, Ramezani T, Lessel I, Alwasiyah MK, Saha B, Hisama FM, Rading K, Goebel I, Schütz P, Speit G, Högel J, Thiele H, Nürnberg G, Nürnberg P, Hammerschmidt M, Zhu Y, Tong DR, Katz C, Martin GM, Oshima J, Prives C, Kubisch C. Dysfunction of the MDM2/p53 axis is linked to premature aging. J Clin Invest 2017; 127(10):3598-3608 PMCID: PMC5617664
Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama FM, Ladd PD, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar TK, Federico A, Fox A, Grebe TA, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar RE, Poke G, Poot M, Posmyk R, Martin GM, Kubisch C, Schindler D, Oshima J. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama FM, Ladd PD, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar TK, Federico A, Fox A, Grebe TA, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar RE, Poke G, Poot M, Posmyk R, Martin GM, Kubisch C, Schindler D, Oshima J. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects. Hum Mutat 2017 38(1):7-15 PMID: 27667302
Purizaca-Rosillo N, Mori T, Benites-Cóndor Y, Hisama FM, Martin GM, Oshima J. High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.Purizaca-Rosillo N, Mori T, Benites-Cóndor Y, Hisama FM, Martin GM, Oshima J. High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome. Am J Med Genet A 2017 Feb;173(2):471-478 PMCID: PMC5247312
Lessel D, Hisama FM, Szakszon K, Saha B, Sanjuanelo AB, Salbert BA, Steele PD, Baldwin J, Brown WT, Piussan C, Plauchu H, Szilvássy J, Horkay E, Högel J, Martin GM, Herr AJ, Oshima J, Kubisch C. POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.Lessel D, Hisama FM, Szakszon K, Saha B, Sanjuanelo AB, Salbert BA, Steele PD, Baldwin J, Brown WT, Piussan C, Plauchu H, Szilvássy J, Horkay E, Högel J, Martin GM, Herr AJ, Oshima J, Kubisch C. POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome. Hum Mutat 2015 Nov;36(11):1070-9 PMCID: PMC4684254
Bihlmeyer NA, Brody JA, Smith A, Lunetta KL, Nalls M, Smith JA, Tanaka T, Davies G, Yu L, Mirza S, Teumer A, Coresh J, Pankow JS, Franceschini N, Scaria A, Oshima J, Psaty BM, Gudnason V, Eiriksdottir G, Harris TB, Li H, Karasik D, Kiel DP, Garcia M, Liu Y, Faul JD, Kardia S, Zhao W, Ferrucci L, Allerhand M, Liewald DC, Redmond P, Starr JM, De Jager PL, Evans DA, Direk N, Ikram M, Uitterlinden A, Homuth G, Lorbeer R, Grabe HJ, Launer L, Murabito JM, Singleton AB, Weir DR, Bandinelli S, Deary IJ, Bennett DA, Tiemeier H, Kocher T, Lumley T, Arking DE. Genetic diversity is a predictor of mortality in humans.Bihlmeyer NA, Brody JA, Smith A, Lunetta KL, Nalls M, Smith JA, Tanaka T, Davies G, Yu L, Mirza S, Teumer A, Coresh J, Pankow JS, Franceschini N, Scaria A, Oshima J, Psaty BM, Gudnason V, Eiriksdottir G, Harris TB, Li H, Karasik D, Kiel DP, Garcia M, Liu Y, Faul JD, Kardia S, Zhao W, Ferrucci L, Allerhand M, Liewald DC, Redmond P, Starr JM, De Jager PL, Evans DA, Direk N, Ikram M, Uitterlinden A, Homuth G, Lorbeer R, Grabe HJ, Launer L, Murabito JM, Singleton AB, Weir DR, Bandinelli S, Deary IJ, Bennett DA, Tiemeier H, Kocher T, Lumley T, Arking DE. Genetic diversity is a predictor of mortality in humans. BMC Genet 2014 Dec 29;15(1):1274 PMCID: PMC4301661
Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JCH, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Högel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmüller J, Nürnberg G, Nürnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C. Mutations in SPRTN cause early-onset hepatocellular carcinoma, genomic instability and progeroid features.Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JCH, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Högel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmüller J, Nürnberg G, Nürnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C. Mutations in SPRTN cause early-onset hepatocellular carcinoma, genomic instability and progeroid features. Nat Genet 2014 Nov;46(11):1239-44 PMCID: PMC4343211
Saha B, Cypro A, Martin GM, Oshima J. Rapamycin decreases DNA damage accumulation and enhances cell growth of WRN deficient human fibroblasts.Saha B, Cypro A, Martin GM, Oshima J. Rapamycin decreases DNA damage accumulation and enhances cell growth of WRN deficient human fibroblasts. Aging Cell 2014 Jun;13(3):573-5 PMCID: PMC4032596
Lessel D, Saha B, Hisama F, Kaymakamzade B, Nurlu G, Gursoy-Özdemir Y, Thiele H, Nürnberg P, Martin GM, Kubisch C, Oshima J. Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier? Am J Med Genet A.Lessel D, Saha B, Hisama F, Kaymakamzade B, Nurlu G, Gursoy-Özdemir Y, Thiele H, Nürnberg P, Martin GM, Kubisch C, Oshima J. Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier? Am J Med Genet A. 2014 Oct;164A(10):2510-3 PMCID: PMC4167236
Risques RA, Arbeev KG, Yashin AI, Ukraintseva SV, Martin GM, Rabinovitch PS, Oshima J. Leukocyte telomere length is associated with disability in older U.Risques RA, Arbeev KG, Yashin AI, Ukraintseva SV, Martin GM, Rabinovitch PS, Oshima J. Leukocyte telomere length is associated with disability in older U.S population J Am Geriatr Soc
Kulminski A, Ukraintseva SV, Arbeev KG, Manton KG, Oshima J, Martin GM, Yashin AI. Association between APOE e2/e3/e4 polymorphism and disability severity in a national long-term care survey sample.Kulminski A, Ukraintseva SV, Arbeev KG, Manton KG, Oshima J, Martin GM, Yashin AI. Association between APOE e2/e3/e4 polymorphism and disability severity in a national long-term care survey sample. Age Ageing 2008 May;37(3):288-93 PMCID: PMC2710764
Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg A, Hanson NB, Martin GM, Mian IS, Kennedy BK, Oshima J. LMNA mutations in atypical Werner’s syndrome.Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg A, Hanson NB, Martin GM, Mian IS, Kennedy BK, Oshima J. LMNA mutations in atypical Werner’s syndrome. Lancet 2003 Aug 9;362(9382):440-5 PMID: 12927431
Yu CE,* Oshima, J,* Fu YH,* Hisama F, Wijsman EM, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD. Positional cloning of the Werner’s syndrome gene.Yu CE,* Oshima, J,* Fu YH,* Hisama F, Wijsman EM, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD. Positional cloning of the Werner’s syndrome gene. Science 1996 Apr 12;272(5259):258-62 PMID: 8602509 (*equal contribution)