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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
Journal Article
Ocular Manifestations of Xeroderma Pigmentosum
Brooks, Brian P., MD, PhD, Thompson, Amy H., PhD, Bishop, Rachel J., MD, Clayton, Janine A., MD, Chan, Chi-Chao, MD, Tsilou, Ekaterini T., MD, Zein, Wadih M., MD, Tamura, Deborah, RN, MS, Khan, Sikandar G., PhD, Ueda, Takahiro, PhD, Boyle, Jennifer, PhD, Oh, Kyu-Seon, PhD, Imoto, Kyoko, PhD, Inui, Hiroki, PhD, Moriwaki, Shin-Ichi, PhD, Emmert, Steffen, MD, Iliff, Nicholas T., MD, Bradford, Porcia, MD, DiGiovanna, John J., MD, Kraemer, Kenneth H., MD
Published in Ophthalmology (Rochester, Minn.) (01.07.2013)
Published in Ophthalmology (Rochester, Minn.) (01.07.2013)
Get full text
Journal Article