PubRank

Kenneth H Kraemer

Author PubWeight™ 62.99‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Shining a light on xeroderma pigmentosum. J Invest Dermatol 2012 2.33
2 Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet 2010 2.14
3 Transcription-coupled nucleotide excision repair as a determinant of cisplatin sensitivity of human cells. Cancer Res 2002 2.09
4 Rapid assessment of repair of ultraviolet DNA damage with a modified host-cell reactivation assay using a luciferase reporter gene and correlation with polymorphisms of DNA repair genes in normal human lymphocytes. Mutat Res 2002 1.68
5 Activation of ATM depends on chromatin interactions occurring before induction of DNA damage. Nat Cell Biol 2008 1.63
6 Chromosomal protein HMGN1 enhances the rate of DNA repair in chromatin. EMBO J 2003 1.59
7 The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function. Nucleic Acids Res 2002 1.58
8 Xeroderma pigmentosum-variant patients from America, Europe, and Asia. J Invest Dermatol 2008 1.46
9 Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population. Mutat Res 2006 1.39
10 Structural and molecular hair abnormalities in trichothiodystrophy. J Invest Dermatol 2006 1.37
11 Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. Hum Mol Genet 2003 1.34
12 Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. J Invest Dermatol 2002 1.32
13 Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. Hum Mutat 2006 1.31
14 Melanin acts as a potent UVB photosensitizer to cause an atypical mode of cell death in murine skin. Proc Natl Acad Sci U S A 2004 1.31
15 Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis 2005 1.30
16 Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy. J Am Acad Dermatol 2005 1.30
17 Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas. Proc Natl Acad Sci U S A 2009 1.27
18 Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature. Surv Ophthalmol 2011 1.23
19 Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum Mutat 2008 1.18
20 Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study. Carcinogenesis 2005 1.09
21 XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms. DNA Repair (Amst) 2008 1.06
22 Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage. DNA Repair (Amst) 2007 1.01
23 The role of polymerase eta in somatic hypermutation determined by analysis of mutations in a patient with xeroderma pigmentosum variant. J Immunol 2002 1.01
24 Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients. J Exp Med 2009 0.99
25 Skin cancers, blindness, and anterior tongue mass in African brothers. J Am Acad Dermatol 2008 0.95
26 From proteomics to disease. Nat Genet 2004 0.94
27 Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. Proc Natl Acad Sci U S A 2013 0.93
28 Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). Exp Dermatol 2008 0.92
29 High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies. Prenat Diagn 2011 0.92
30 Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration. Brain 2013 0.91
31 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). Acta Neuropathol Commun 2013 0.90
32 UV-induced histone H2AX phosphorylation and DNA damage related proteins accumulate and persist in nucleotide excision repair-deficient XP-B cells. DNA Repair (Amst) 2010 0.88
33 Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency. Hum Mutat 2013 0.87
34 Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene. J Invest Dermatol 2010 0.87
35 High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients. Pigment Cell Melanoma Res 2014 0.86
36 Ocular manifestations of trichothiodystrophy. Ophthalmology 2011 0.86
37 Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage. Ophthalmology 2013 0.86
38 Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl. J Am Acad Dermatol 2010 0.85
39 XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients. Hum Mutat 2010 0.85
40 Rare diseases provide rare insights into DNA repair pathways, TFIIH, aging and cancer center. DNA Repair (Amst) 2005 0.84
41 No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma. Eur J Hum Genet 2005 0.83
42 Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients. Photodermatol Photoimmunol Photomed 2014 0.83
43 Xeroderma pigmentosum and other diseases of human premature aging and DNA repair: molecules to patients. Mech Ageing Dev 2011 0.82
44 Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities. Exp Dermatol 2012 0.82
45 The nucleosome-binding protein HMGN2 modulates global genome repair. FEBS J 2009 0.82
46 The DNA Repair Interest Group: a global village. DNA Repair (Amst) 2005 0.80
47 Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum. Eur J Hum Genet 2012 0.80
48 Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration. Otol Neurotol 2013 0.80
49 Founder mutations in xeroderma pigmentosum. J Invest Dermatol 2010 0.80
50 Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew. Arch Dermatol 2009 0.80
51 Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum. Eur J Hum Genet 2012 0.80
52 Nucleotide excision repair proteins rapidly accumulate but fail to persist in human XP-E (DDB2 mutant) cells. Photochem Photobiol 2011 0.79
53 Do not underestimate nucleotide excision repair: it predicts not only melanoma risk but also survival outcome. J Invest Dermatol 2013 0.79
54 Genetic diversity in melanoma metastases from a patient with xeroderma pigmentosum. J Invest Dermatol 2009 0.79
55 NRAS hypermutability in familial melanoma with CDKN2A mutations--cause and effect? J Natl Cancer Inst 2003 0.79
56 Ancient origin of a Japanese xeroderma pigmentosum founder mutation. J Dermatol Sci 2012 0.78
57 Growth and nutrition in children with trichothiodystrophy. J Pediatr Gastroenterol Nutr 2014 0.77
58 Transcriptional signatures of full-spectrum and non-UVB-spectrum solar irradiation in human skin. Pigment Cell Melanoma Res 2011 0.77
59 Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients. Exp Dermatol 2015 0.75
60 A novel complex insertion/deletion mutation in the XPC DNA repair gene leads to skin cancer in an Iraqi family. J Invest Dermatol 2006 0.75
61 Montagna Symposium 2011: 60th Anniversary--Advances in Science and Medicine Catalyzed by Pioneering Skin Research. J Invest Dermatol 2012 0.75
62 Reproductive Health in Xeroderma Pigmentosum: Features of Premature Aging. Obstet Gynecol 2019 0.75