Predisposition to hematologic malignancies in patients with xeroderma pigmentosum von Oetjen, Karolyn A., Levoska, Melissa A., Tamura, Deborah, Ito, Sawa, Douglas, Dorothea, Khan, Sikandar G., Calvo, Katherine R., Kraemer, Kenneth H., DiGiovanna, John J.

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GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy von 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

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Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons von Kuschal, Christiane, DiGiovanna, John. J., Khan, Sikandar G., Gatti, Richard A., Kraemer, Kenneth H.

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Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers von Fernandez, Elvelyn R., Tamura, Deborah, Khan, Sikandar G., Momen, Sophie, Fassihi, Hiva, Sarkany, Robert, DiGiovanna, John J., Kraemer, Kenneth H.

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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 von Wang, Yun, Masaki, Taro, Khan, Sikandar G, Tamura, Deborah, Kuschal, Christiane, Rogers, Megan, DiGiovanna, John J, Kraemer, Kenneth H

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Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies von 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.

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High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients von Masaki, Taro, Wang, Yun, DiGiovanna, John J., Khan, Sikandar G., Raffeld, Mark, Beltaifa, Senda, Hornyak, Thomas J., Darling, Thomas N., Lee, Chyi-Chia R., Kraemer, Kenneth H.

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Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients von Kuschal, Christiane, Khan, Sikandar G., Enk, Benedikt, DiGiovanna, John J., Kraemer, Kenneth H.

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Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas von Wang, Yun, DiGiovanna, John J, Stern, Jere B, Hornyak, Thomas J, Raffeld, Mark, Khan, Sikandar G, Oh, Kyu-Seon, Hollander, M. Christine, Dennis, Philip A, Kraemer, Kenneth H

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Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum von Zhou, Xiaolong, Khan, Sikandar G, Tamura, Deborah, Ueda, Takahiro, Boyle, Jennifer, Compe, Emmanuel, Egly, Jean-Marc, DiGiovanna, John J, Kraemer, Kenneth H

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Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap von Abiona, Adesoji, Cordeiro, Nuno, Fawcett, Heather, Tamura, Deborah, Khan, Sikandar G., DiGiovanna, John J., Lehmann, Alan R., Fassihi, Hiva

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Ocular Manifestations of Trichothiodystrophy von Brooks, Brian P., MD, PhD, Thompson, Amy H., PhD, Clayton, Janine A., MD, Chan, Chi-Chao, MD, Tamura, Deborah, RN, MS, Zein, Wadih M., MD, Blain, Delphine, MS, MBA, Hadsall, Casey, RN, BSN, Rowan, John, COMT, Bowles, Kristen E., OD, MS, Khan, Sikandar G., PhD, Ueda, Takahiro, PhD, Boyle, Jennifer, PhD, Oh, Kyu-Seon, PhD, DiGiovanna, John J., MD, Kraemer, Kenneth H., MD

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Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair von 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

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Ancient origin of a Japanese xeroderma pigmentosum founder mutation von Imoto, Kyoko, Nadem, Carine, Moriwaki, Shin-Ichi, Nishigori, Chikako, Oh, Kyu-Seon, Khan, Sikandar G, Goldstein, Alisa M, Kraemer, Kenneth H

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Trichothiodystrophy hair shafts display distinct ultrastructural features von Ioannidis, Angeliki‐Diotima, Khan, Sikandar G., Tamura, Deborah, DiGiovanna, John J., Rizza, Elizabeth, Kraemer, Kenneth H., Rice, Robert H.

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Reproductive Health in Xeroderma Pigmentosum: Features of Premature Aging von Merideth, Melissa, Tamura, Deborah, Angra, Divya, Khan, Sikandar G., Ferrell, Joyln, Goldstein, Alisa M., DiGiovanna, John J., Kraemer, Kenneth H.

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Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population von Pugh, Jennifer, Khan, Sikandar G, Tamura, Deborah, Goldstein, Alisa M, Landi, Maria Teresa, DiGiovanna, John J, Kraemer, Kenneth H

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Mutations in the TTDN1 Gene Are Associated with a Distinct Trichothiodystrophy Phenotype von Heller, Elizabeth R., Khan, Sikandar G., Kuschal, Christiane, Tamura, Deborah, DiGiovanna, John J., Kraemer, Kenneth H.

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Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis von DiGiovanna, John J., Randall, Grant, Edelman, Alexandra, Allawh, Rina, Xiong, Michael, Tamura, Deborah, Khan, Sikandar G., Rizza, Elizabeth R. H., Reynolds, James C., Paul, Scott M., Hill, Suvimol C., Kraemer, Kenneth H.

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Mortality‐associated immunological abnormalities in trichothiodystrophy: correlation of reduced levels of immunoglobulin and neutrophils with poor patient survival von Randall, Grant, Kraemer, Kenneth H., Pugh, Jennifer, Tamura, Deborah, DiGiovanna, John J., Khan, Sikandar G., Oetjen, Karolyn A.

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