Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
Bradford, Porcia T, Goldstein, Alisa M, Tamura, Deborah, Khan, Sikandar G, Ueda, Takahiro, Boyle, Jennifer, Oh, Kyu-Seon, Imoto, Kyoko, Inui, Hiroki, Moriwaki, Shin-Ichi, Emmert, Steffen, Pike, Kristen M, Raziuddin, Arati, Plona, Teri M, DiGiovanna, John J, Tucker, Margaret A, Kraemer, Kenneth H
Published in Journal of medical genetics (01.03.2011)
Published in Journal of medical genetics (01.03.2011)
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Journal Article
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype–phenotype relationship
Kraemer, K.H, Patronas, N.J, Schiffmann, R, Brooks, B.P, Tamura, D, DiGiovanna, J.J
Published in Neuroscience (14.04.2007)
Published in Neuroscience (14.04.2007)
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Journal Article
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons
Kuschal, Christiane, DiGiovanna, John. J., Khan, Sikandar G., Gatti, Richard A., Kraemer, Kenneth H.
Published in Proceedings of the National Academy of Sciences - PNAS (26.11.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (26.11.2013)
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Journal Article
A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome
McDermott, David H, Velez, Daniel, Cho, Elena, Cowen, Edward W, DiGiovanna, John J, Pastrana, Diana V, Buck, Christopher B, Calvo, Katherine R, Gardner, Pamela J, Rosenzweig, Sergio D, Stratton, Pamela, Merideth, Melissa A, Kim, H Jeffrey, Brewer, Carmen, Katz, James D, Kuhns, Douglas B, Malech, Harry L, Follmann, Dean, Fay, Michael P, Murphy, Philip M
Published in The Journal of clinical investigation (01.10.2023)
Published in The Journal of clinical investigation (01.10.2023)
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Journal Article
Predisposition to hematologic malignancies in patients with xeroderma pigmentosum
Oetjen, Karolyn A, Levoska, Melissa A, Tamura, Deborah, Ito, Sawa, Douglas, Dorothea, Khan, Sikandar G, Calvo, Katherine R, Kraemer, Kenneth H, DiGiovanna, John J
Published in Haematologica (Roma) (01.04.2020)
Published in Haematologica (Roma) (01.04.2020)
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Journal Article
Coadaptive Brain-Machine Interface via Reinforcement Learning
DiGiovanna $^$, Jack, Mahmoudi, Babak, Fortes, Jose, Principe, Jose C., Sanchez, Justin C.
Published in IEEE transactions on biomedical engineering (01.01.2009)
Published in IEEE transactions on biomedical engineering (01.01.2009)
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Journal Article
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
McLean, W H Irwin, Smith, Frances J D, Irvine, Alan D, Terron-Kwiatkowski, Ana, Sandilands, Aileen, Campbell, Linda E, Zhao, Yiwei, Liao, Haihui, Evans, Alan T, Goudie, David R, Lewis-Jones, Sue, Arseculeratne, Gehan, Munro, Colin S, Sergeant, Ann, O'Regan, Gráinne, Bale, Sherri J, Compton, John G, DiGiovanna, John J, Presland, Richard B, Fleckman, Philip
Published in Nature genetics (01.03.2006)
Published in Nature genetics (01.03.2006)
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Journal Article
Systemic retinoids in the management of ichthyoses and related skin types
DiGiovanna, John J., Mauro, Theodora, Milstone, Leonard M., Schmuth, Matthias, Toro, Jorge R
Published in Dermatologic therapy (01.01.2013)
Published in Dermatologic therapy (01.01.2013)
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Journal Article
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy
Kuschal, Christiane, Botta, Elena, Orioli, Donata, Digiovanna, John J., Seneca, Sara, Keymolen, Kathelijn, Tamura, Deborah, Heller, Elizabeth, Khan, Sikandar G., Caligiuri, Giuseppina, Lanzafame, Manuela, Nardo, Tiziana, Ricotti, Roberta, Peverali, Fiorenzo A., Stephens, Robert, Zhao, Yongmei, Lehmann, Alan R., Baranello, Laura, Levens, David, Kraemer, Kenneth H., Stefanini, Miria
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Journal Article
Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers
Fernandez, Elvelyn R., Tamura, Deborah, Khan, Sikandar G., Momen, Sophie, Fassihi, Hiva, Sarkany, Robert, DiGiovanna, John J., Kraemer, Kenneth H.
Published in Frontiers in oncology (25.10.2023)
Published in Frontiers in oncology (25.10.2023)
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Journal Article
Decoding bipedal locomotion from the rat sensorimotor cortex
Rigosa, J, Panarese, A, Dominici, N, Friedli, L, van den Brand, R, Carpaneto, J, DiGiovanna, J, Courtine, G, Micera, S
Published in Journal of neural engineering (01.10.2015)
Published in Journal of neural engineering (01.10.2015)
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Journal Article
Global Contributions to the Understanding of DNA Repair and Skin Cancer
Kraemer, Kenneth H., DiGiovanna, John J.
Published in Journal of investigative dermatology (01.10.2014)
Published in Journal of investigative dermatology (01.10.2014)
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Journal Article
Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging
Kouatcheu, S. D., Marko, J., Tamura, D., Khan, S. G., Lee, C. R., DiGiovanna, J. J., Kraemer, K. H.
Published in Journal of endocrinological investigation (01.07.2021)
Published in Journal of endocrinological investigation (01.07.2021)
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Journal Article
Four-dimensional, dynamic mosaicism is a hallmark of normal human skin that permits mapping of the organization and patterning of human epidermis during terminal differentiation
Wang, Yun, Masaki, Taro, Khan, Sikandar G, Tamura, Deborah, Kuschal, Christiane, Rogers, Megan, DiGiovanna, John J, Kraemer, Kenneth H
Published in PloS one (13.06.2018)
Published in PloS one (13.06.2018)
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Journal Article
Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies
Lehky, Tanya J, Sackstein, Paul, Tamura, Deborah, Quezado, Martha, Wu, Tianxia, Khan, Sikandar G, Patronas, Nicholas J, Wiggs, Edythe, Brewer, Carmen C, DiGiovanna, John J, Kraemer, Kenneth H
Published in BMC neurology (09.10.2021)
Published in BMC neurology (09.10.2021)
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Journal Article
Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development
Moslehi, R, Signore, C, Tamura, D, Mills, JL, DiGiovanna, JJ, Tucker, MA, Troendle, J, Ueda, T, Boyle, J, Khan, SG, Oh, K-S, Goldstein, AM, Kraemer, KH
Published in Clinical genetics (01.04.2010)
Published in Clinical genetics (01.04.2010)
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Journal Article
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
Richard, Gabriele, Bale, Sherri J, Smith, Lisa E, Bailey, Regina A, Itin, Peter, Hohl, Daniel, Epstein, Ervin H, DiGiovanna, John J, Compton, John G
Published in Nature genetics (01.12.1998)
Published in Nature genetics (01.12.1998)
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Journal Article
Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome
Richard, Gabriele, Rouan, Fatima, Willoughby, Colin E., Brown, Nkecha, Chung, Pil, Ryynänen, Markku, Jabs, Ethylin Wang, Bale, Sherri J., DiGiovanna, John J., Uitto, Jouni, Russell, Laura
Published in American journal of human genetics (01.05.2002)
Published in American journal of human genetics (01.05.2002)
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