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J. DiGiovanna · SciRah

Researcher profile · Semantic Scholar

J. DiGiovanna

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J. DiGiovanna — researcher profile on SciRah

h-index: 63
Works: 232
Citations: 19K

Most-cited papers

Activated STING in a Vascular and Pulmonary Syndrome
Y. Liu, A. A. Jesus, B. Marrero, D. Yang +48 more
2014New England Journal of Medicine1,230 citations Open access
Semantic Scholar
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.
V. Oji, G. Tadini, M. Akiyama, Claudine Blanchet-Bardon +33 more
2010Journal of American Academy of Dermatology765 citations Open access
Semantic Scholar
SHINING A LIGHT ON XERODERMA PIGMENTOSUM
J. DiGiovanna, K. Kraemer
2012Journal of Investigative Dermatology539 citations Open access
Semantic Scholar
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies
G. Montealegre Sanchez, Adam L. Reinhardt, S. Ramsey, H. Wittkowski +51 more
2018Journal of Clinical Investigation478 citations Open access
Semantic Scholar
Tretinoin and the prevention of keratinocyte carcinoma (Basal and squamous cell carcinoma of the skin): a veterans affairs randomized chemoprevention trial.
M. Weinstock, S. Bingham, J. DiGiovanna, A. Rizzo +8 more
2012Journal of Investigative Dermatology109 citations Open access
Semantic Scholar
Chemoprevention of Basal and Squamous Cell Carcinoma With a Single Course of Fluorouracil, 5%, Cream: A Randomized Clinical Trial
M. Weinstock, S. Thwin, J. Siegel, K. Marcolivio +21 more
2018JAMA dermatology107 citations Open access
Semantic Scholar
SYSTEMIC RETINOIDS IN THE MANAGEMENT OF OF ICHTHYOSES AND RELATED SKIN TYPES
J. DiGiovanna, T. Mauro, L. Milstone, M. Schmuth +1 more
2013Dermatologic Therapy99 citations Open access
Semantic Scholar
Ocular manifestations of xeroderma pigmentosum: long term follow-up highlights the role of DNA repair in protection from sun damage
B. Brooks, A. H. Thompson, R. Bishop, J. Clayton +16 more
2013Ophthalmology (Rochester, Minn.)90 citations Open access
Semantic Scholar
Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature
H. Ramkumar, B. Brooks, Xiaoguang Cao, D. Tamura +3 more
2011Survey of ophthalmology73 citations Open access
Semantic Scholar
Cutaneous Adverse Effects Associated With the Tyrosine-Kinase Inhibitor Cabozantinib
R. C. Zuo, A. Apolo, J. DiGiovanna, H. Parnes +4 more
2015JAMA dermatology71 citations Open access
Semantic Scholar
Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients
D. Tamura, J. DiGiovanna, Sikandar G. Khan, K. H. Kraemer
2014Photodermatology, Photoimmunology & Photomedicine67 citations Open access
Semantic Scholar
Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents
A. Zaenglein, M. Levy, Nicole S. Stefanko, L. Benjamin +19 more
2020Pediatric dermatology62 citations Open access
Semantic Scholar
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
C. Kuschal, Elena Botta, D. Orioli, J. DiGiovanna +17 more
2016American Journal of Human Genetics61 citations Open access
Semantic Scholar
Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in Caucasians.
Jeffrey I. Cohen, I. Manoli, K. Dowdell, T. Krogmann +18 more
2019Blood60 citations Open access
Semantic Scholar
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons
C. Kuschal, J. DiGiovanna, Sikandar G. Khan, R. Gatti +1 more
2013Proceedings of the National Academy of Sciences of the United States of America57 citations Open access
Semantic Scholar
Forty Years of Research on Xeroderma Pigmentosum at the US National Institutes of Health
K. Kraemer, J. DiGiovanna
2015Photochemistry and Photobiology54 citations Open access
Semantic Scholar
The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D)
Jin-Ping Lai, Yen-Chun Liu, M. Alimchandani, Qingyan Liu +16 more
2013Acta Neuropathologica Communications54 citations Open access
Semantic Scholar
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
M. Totonchy, D. Tamura, Matthew S. Pantell, C. Zalewski +11 more
2013Brain : a journal of neurology50 citations Open access
Semantic Scholar
Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome
V. Kimonis, Kathryn E. Singh, R. Zhong, B. Pastakia +2 more
2012Genetics in Medicine47 citations Open access
Semantic Scholar
Xeroderma pigmentosum: A model for human premature aging
E. Rizza, J. DiGiovanna, Sikandar G. Khan, D. Tamura +2 more
2021Journal of Investigative Dermatology40 citations Open access
Semantic Scholar
Cutaneous adverse events in multiple sclerosis patients treated with daclizumab
I. Cortese, J. Ohayon, Kaylan M. Fenton, C. Lee +4 more
2016Neurology38 citations Open access
Semantic Scholar
A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome
D. McDermott, Daniel S. Velez, Elena Cho, E. Cowen +16 more
2023Journal of Clinical Investigation37 citations Open access
Semantic Scholar
Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype
E. Heller, Sikandar G. Khan, C. Kuschal, D. Tamura +2 more
2014Journal of Investigative Dermatology37 citations Open access
Semantic Scholar
High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients
T. Masaki, Yun Wang, J. DiGiovanna, Sikandar G. Khan +6 more
2014Pigment Cell & Melanoma Research35 citations Open access
Semantic Scholar
Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
O. Aivaz, S. Berkman, L. Middelton, W. Linehan +2 more
2015JAMA dermatology33 citations Open access
Semantic Scholar
Ocular Manifestations of Trichothiodystrophy
B. Brooks, A. H. Thompson, J. Clayton, Chi-Chao Chan +12 more
2011Ophthalmology (Rochester, Minn.)29 citations Open access
Semantic Scholar
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum
Xiaolong Zhou, Sikandar G. Khan, D. Tamura, T. Ueda +5 more
2012European Journal of Human Genetics28 citations Open access
Semantic Scholar
Multiple Skin Cancers in Adults with Mutations in the XP-E (DDB2) DNA Repair Gene
Kyu-Seon Oh, S. Emmert, D. Tamura, J. DiGiovanna +1 more
2010Journal of Investigative Dermatology28 citations Open access
Semantic Scholar
Predisposition to hematologic malignancies in patients with xeroderma pigmentosum
K. Oetjen, M. Levoska, D. Tamura, S. Ito +5 more
2020Haematologica23 citations Open access
Semantic Scholar
HIGH RISK PREGNANCYAND NEONATAL COMPLICATIONSIN THE DNA REPAIR AND TRANSCRIPTION DISORDER TRICHOTHIODYSTROPHY: REPORT OF 27AFFECTED PREGNANCIES
D. Tamura, M. Merideth, J. DiGiovanna, Xiaolong Zhou +9 more
2011Prenatal Diagnosis23 citations Open access
Semantic Scholar
Histopathology of the inner ear in patients with xeroderma pigmentosum and neurological degeneration
L. M. Viana, Mohammad Seyyedi, C. Brewer, C. Zalewski +5 more
2013Otology and Neurotology22 citations Open access
Semantic Scholar
Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients
C. Kuschal, Sikandar G. Khan, Benedikt Enk, J. DiGiovanna +1 more
2015Experimental Dermatology20 citations Open access
Semantic Scholar
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
N. Shanbhag, M. Geschwind, J. DiGiovanna, C. Groden +8 more
2018Neurology: Genetics19 citations Open access
Semantic Scholar
Nucleotide Excision Repair Proteins Rapidly Accumulate but Fail to Persist in Human XP-E (DDB2 Mutant) Cells
Kyu-Seon Oh, Kyoko Imoto, S. Emmert, D. Tamura +2 more
2011Photochemistry and Photobiology18 citations Open access
Semantic Scholar
5-Fluorouracil for Actinic Keratosis Treatment and Chemoprevention: A Randomized Controlled Trial.
Joanna L. Walker, J. Siegel, M. Sachar, H. Pomerantz +7 more
2017Journal of Investigative Dermatology17 citations Open access
Semantic Scholar
BRITTLE HAIR, DEVELOPMENTAL DELAY, NEUROLOGIC ABNORMALITIES AND PHOTOSENSITIVITY IN A 4 YEAR OLD GIRL
Xiaolong Zhou, Sikandar G. Khan, D. Tamura, N. Patronas +4 more
2010Journal of American Academy of Dermatology17 citations Open access
Semantic Scholar
Rapid Development of Migratory, Linear and Serpiginous Lesions in Association with Immunosuppression
Dominique C Pichard, Jennifer R Hensley, Esther C. Williams, A. Apolo +2 more
2014Journal of American Academy of Dermatology16 citations Open access
Semantic Scholar
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum
D. Tamura, Sikandar G. Khan, M. Merideth, J. DiGiovanna +7 more
2012European Journal of Human Genetics16 citations Open access
Semantic Scholar
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population
J. Pugh, Sikandar G. Khan, D. Tamura, A. Goldstein +3 more
2019JAMA dermatology14 citations Open access
Semantic Scholar
Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness and DNA repair deficiency
Xiaohui Tan, S. Anzick, Sikandar G. Khan, T. Ueda +11 more
2013Human Mutation11 citations Open access
Semantic Scholar
Development and Initial Validation of a Novel System to Assess Ichthyosis Severity.
Qi-Si Sun, S. Asch, Cheryl B Bayart, Susan J. Bayliss +15 more
2022JAMA dermatology10 citations Open access
Semantic Scholar
Mortality-associated immunological abnormalities in trichothiodystrophy: correlation of reduced levels of immunoglobulin and neutrophils with poor patient survival
G. Randall, K. Kraemer, J. Pugh, D. Tamura +3 more
2018British Journal of Haematology10 citations Open access
Semantic Scholar
Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers
E. Fernandez, D. Tamura, Sikandar G. Khan, S. Momen +4 more
2023Frontiers in Oncology9 citations Open access
Semantic Scholar
Thyroid Nodules in Xeroderma Pigmentosum Patients: A Feature of Premature Aging
S. D. Kouatcheu, J. Marko, D. Tamura, Sikandar G. Khan +3 more
2020Journal of Endocrinological Investigation8 citations Open access
Semantic Scholar
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease
Elizabeth A. Burke, Kyle Reichard, L. Wolfe, B. Brooks +8 more
2020American Journal of Medical Genetics. Part A8 citations Open access
Semantic Scholar
Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: a report from the National Registry for Ichthyosis and Related Skin Disorders
C. Yang, H. Pomerantz, Kathleen A. Mannava, J. Corwin +4 more
2016Journal of American Academy of Dermatology8 citations Open access
Semantic Scholar
Correlates of skin-related quality of life (QoL) in those with multiple keratinocyte carcinomas (KCs): A cross-sectional study.
J. Siegel, M. Chren, M. Weinstock, K. Marcolivio +83 more
2016Journal of American Academy of Dermatology8 citations
Semantic Scholar
Fluorouracil and other predictors of morpheaform basal cell carcinoma among high-risk patients: the Veterans Affairs Topical Tretinoin Chemoprevention Trial.
Michael Y Xiong, K. Korgavkar, J. DiGiovanna, M. Weinstock
2014JAMA dermatology8 citations
Semantic Scholar
Second International Conference on a classification of ectodermal dysplasias: Development of a multiaxis model
C. Salinas, A. Irvine, P. Itin, J. DiGiovanna +4 more
2014American Journal of Medical Genetics. Part A7 citations Open access
Semantic Scholar
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis
J. DiGiovanna, G. Randall, Alexandra Edelman, R. Allawh +8 more
2022American Journal of Medical Genetics. Part A6 citations Open access
Semantic Scholar

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D. Tamura×24
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D. Tamura — researcher profile on SciRah
Sikandar G. Khan×22
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Sikandar G. Khan — researcher profile on SciRah
K. Kraemer×21
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K. Kraemer — researcher profile on SciRah
K. H. Kraemer×9
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K. H. Kraemer — researcher profile on SciRah

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E. Cowen — researcher profile on SciRah

M. Weinstock×6

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M. Weinstock — researcher profile on SciRah

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T. Ueda — researcher profile on SciRah

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Kyu-Seon Oh — researcher profile on SciRah

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B. Brooks — researcher profile on SciRah

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J. Boyle — researcher profile on SciRah

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