Deborah Tamura - Publications, H-index & Citations

Deborah Tamura

national institutes of health (nih) - usa

24H指数

75论文数

2.5K被引数

收录论文 42

发表时间

RNA lariat debranching enzyme (DBR1) variations in Sabinas brittle hair syndrome form of trichothiodystrophy (TTD): A TTD causing gene RNA套索脱枝酶(DBR1)在萨比纳脆发综合征形式的发硫营养不良(TTD)中的变异：一个导致TTD的基因

Journal of Investigative Dermatology

IF5.7

2025-07-17

PREAI

Sikandar G. Khan; Wenelia Baghoomian; Christiane Kuschal-Tauzon; Deborah Tamura; Maxwell P. Lee; John J. DiGiovanna; Rodrigo Cepeda-Valdes; Julio Salas-Alanis; Kenneth H. Kraemer

Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients

PLOS GENETICS

IF3.7

2024-12-02

OAAI

Sagun, Jeffrey P.; Khan, Sikandar G.; Imoto, Kyoko; Tamura, Deborah; Oh, Kyu-Seon; Digiovanna, John J.; Kraemer, Kenneth H.

Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers

FRONTIERS IN ONCOLOGY

IF3.3

2023-10-25

OAAI

Fernandez, Elvelyn R.; Tamura, Deborah; Khan, Sikandar G.; Momen, Sophie; Fassihi, Hiva; Sarkany, Robert; Digiovanna, John J.; Kraemer, Kenneth H.

Trichothiodystrophy hair shafts display distinct ultrastructural features

EXPERIMENTAL DERMATOLOGY

IF3.1

2022-06-13

OAAI

Ioannidis, Angeliki-Diotima; Khan, Sikandar G.; Tamura, Deborah; DiGiovanna, John J.; Rizza, Elizabeth; Kraemer, Kenneth H.; Rice, Robert H.

Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap

PEDIATRICS

IF6.4

2021-10-01

OAAI

Abiona, Adesoji; Cordeiro, Nuno; Fawcett, Heather; Tamura, Deborah; Khan, Sikandar G.; DiGiovanna, John J.; Lehmann, Alan R.; Fassihi, Hiva

Xeroderma Pigmentosum: A Model for Human Premature Aging

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IF5.7

2021-04-01

OAAI

Rizza, Elizabeth R. H.; DiGiovanna, John J.; Khan, Sikandar G.; Tamura, Deborah; Jeskey, Jack D.; Kraemer, Kenneth H.

Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

IF3.5

2020-11-05

OAAI

Kouatcheu, S. D.; Marko, J.; Tamura, D.; Khan, S. G.; Lee, C. R.; DiGiovanna, J. J.; Kraemer, K. H.

Reproductive Health in Xeroderma Pigmentosum Features of Premature Aging

OBSTETRICS AND GYNECOLOGY

IF4.7

2019-10-01

OAAI

Merideth, Melissa; Tamura, Deborah; Angra, Divya; Khan, Sikandar G.; Ferrell, Joyln; Goldstein, Alisa M.; DiGiovanna, John J.; Kraemer, Kenneth H.

Deep phenotyping using principal component analysis effectively arrays XPD (ERCC2) xeroderma pigmentosum and trichothiodystrophy patient phenotypes: The XP-TTD coefficient

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IF5.7

2019-09-01

OAAI

Pugh, J. M.; Nelson, G. W.; Levoska, M. A.; Hanona, P. F.; Tamura, D.; Heller, E. R.; Khan, S. G.; Scheibye-Knudsen, M.; DiGiovanna, J. J.; Kraemer, K. H.

Predisposition to hematologic malignancies in patients with xeroderma pigmentosum

HAEMATOLOGICA

IF7.9

2019-08-22

OAAI

Oetjen, Karolyn A.; Levoska, Melissa A.; Tamura, Deborah; Ito, Sawa; Douglas, Dorothea; Khan, Sikandar G.; Calvo, Katherine R.; Kraemer, Kenneth H.; DiGiovanna, John J.

Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population

JAMA DERMATOLOGY

IF11

2019-01-01

OAAI

Pugh, Jennifer; Khan, Sikandar G.; Tamura, Deborah; Goldstein, Alisa M.; Landi, Maria Teresa; DiGiovanna, John J.; Kraemer, Kenneth H.

Pembrolizumab treatment of a patient with xeroderma pigmentosum with disseminated melanoma and multiple nonmelanoma skin cancers

BRITISH JOURNAL OF DERMATOLOGY

IF9.6

2018-05-16

OAAI

Kraemer, K. H.; Tamura, D.; Khan, S. G.

Mixed phenotype acute leukemia in xeroderma pigmentosum

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IF5.7

2018-05-01

OAAI

Levoska, M.; Tamura, D.; Ito, S.; Calvo, K.; Douglas, D. N.; Oetjen, K.; Khan, S. G.; Kraemer, K. H.; DiGiovanna, J. J.

Hematologic abnormalities in trichothiodystrophy

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IF5.7

2018-05-01

OAAI

Randall, G.; Oetjen, K.; Pugh, J.; Levoska, M.; Khan, S. G.; Tamura, D.; DiGiovanna, J. J.; Kraemer, K. H.

Use of hierarchical clustering and principal component analysis for deep phenotyping of patients with mutations in XPD (ERCC2): trichothiodystrophy (TTD), xeroderma pigmentosum (XP) and XP/TTD

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IF5.7

2018-05-01

OAAI

Levoska, M.; Pugh, J.; Nelson, G.; Hanona, P.; Tamura, D.; Heller, E.; Khan, S. G.; Scheibye-Knudsen, M.; DiGiovanna, J. J.; Kraemer, K. H.

Recurrent scarring papulovesicular lesions on sun-exposed skin in a 22-year-old man

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

IF11.8

2018-03-01

OAAI

Levoska, Melissa A.; Cohen, Jeffrey I.; Manoli, Irini; Lee, Chyi-Chia Richard; Ching, Steven S. T.; Shand, Jessica; Tamura, Deborah; Kraemer, Kenneth H.; DiGiovanna, John J.

Molecular diagnosis of xeroderma pigmentosum variant in an isolated population: the interface between precision medicine and public health

BRITISH JOURNAL OF DERMATOLOGY

IF9.6

2017-05-15

PREAI

Tamura, D.; Khan, S. G.; DiGiovanna, J. J.

Higher levels of XPC protein expression in cells from XP-C patients with late onset of disease associated with missense or splice lariat mutations

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IF5.7

2017-05-01

OAAI

Khan, S.; Ono, R.; Chen, J.; Luo, X.; Tamura, D.; DiGiovanna, J.; Kraemer, K.