John J. DiGiovanna

19.7k citations

152 papers · 9.4k indexed · 2 hit papers · h-index 48

Molecular Biology top 1%
Dermatology top 0.05%
Cell Biology top 0.2%
Genetics top 1%
Epidemiology top 2%

Co-authors: Kenneth H. Kraemer Sherri J. Bale Gary L. Peck John G. Compton Deborah Tamura Alisa M. Goldstein Virginia Kimonis Peter M. Steinert
Topics: DNA Repair Mechanisms (38 papers)Skin and Cellular Biology Research (32 papers)Retinoids in leukemia and cellular processes (20 papers)
Cited by: Dermatology Cell Biology Molecular Biology
Journals: New England Journal of Medicine Cell Proceedings of the National Academy of Sciences
Partner nations: United States Japan United Kingdom

In The Last Decade

John J. DiGiovanna

150 papers receiving 9.0k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

2006 681 citations Sherri J. Bale, John J. DiGiovanna et al. profile →
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

1997 646 citations Virginia Kimonis, John J. DiGiovanna et al. profile →

Peers

Countries citing papers authored by John J. DiGiovanna

Since Specialization

Citations

This map shows the geographic impact of John J. DiGiovanna's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by John J. DiGiovanna with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites John J. DiGiovanna more than expected).

Fields of papers citing papers by John J. DiGiovanna

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by John J. DiGiovanna. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by John J. DiGiovanna. The network helps show where John J. DiGiovanna may publish in the future.

Co-authorship network of co-authors of John J. DiGiovanna

This figure shows the co-authorship network connecting the top 25 collaborators of John J. DiGiovanna. A scholar is included among the top collaborators of John J. DiGiovanna based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with John J. DiGiovanna. John J. DiGiovanna is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	RNA Lariat-Debranching Enzyme (DBR1) Variations in Sabinas Brittle Hair Syndrome Form of Trichothiodystrophy: A Trichothiodystrophy-Causing Gene 2025 ·Journal of Investigative Dermatology ·Sikandar G. Khan,(unknown),(unknown),Deborah Tamura,Maxwell P. Lee,John J. DiGiovanna,Rodrigo Cepeda‐Valdes,Julio C. Salas‐Alanís,Kenneth H. Kraemer	1
2	A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome 2023 ·Journal of Clinical Investigation ·David H. McDermott,Daniel Velez,(unknown),Edward W. Cowen,John J. DiGiovanna,Diana V. Pastrana,Christopher B. Buck,Katherine R. Calvo,Pamela J. Gardner,Sergio D. Rosenzweig,Pamela Stratton,Melissa A. Merideth,H. Jeffrey Kim,Carmen C. Brewer,James D. Katz,Douglas B. Kuhns,Harry L. Malech,Dean Follmann,Michael P. Fay,Philip M. Murphy	22
3	Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis 2022 ·American Journal of Medical Genetics Part A ·John J. DiGiovanna,(unknown),(unknown),(unknown),Michael Xiong,Deborah Tamura,Sikandar G. Khan,(unknown),James C. Reynolds,Scott M. Paul,Suvimol Hill,Kenneth H. Kraemer	5
4	Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies 2021 ·BMC Neurology ·Tanya Lehky,Paul Sackstein,Deborah Tamura,Martha Quezado,Tianxia Wu,Sikandar G. Khan,Nicholas J. Patronas,Edythe Wiggs,Carmen C. Brewer,John J. DiGiovanna,Kenneth H. Kraemer	5
5	Xeroderma Pigmentosum: A Model for Human Premature Aging 2021 ·Journal of Investigative Dermatology ·(unknown),John J. DiGiovanna,Sikandar G. Khan,Deborah Tamura,(unknown),Kenneth H. Kraemer	30
6	A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease 2020 ·American Journal of Medical Genetics Part A ·Elizabeth A. Burke,(unknown),Lynne A. Wolfe,Brian P. Brooks,John J. DiGiovanna,Donald W. Hadley,Tanya Lehky,Andrea Gropman,Cynthia J. Tifft,William A. Gahl,Camilo Toro,David R. Adams	7
7	Mutations in the TTDN1 Gene Are Associated with a Distinct Trichothiodystrophy Phenotype 2014 ·Journal of Investigative Dermatology ·(unknown),Sikandar G. Khan,Christiane Kuschal,Deborah Tamura,John J. DiGiovanna,Kenneth H. Kraemer	25
8	Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons 2013 ·Proceedings of the National Academy of Sciences ·Christiane Kuschal,John J. DiGiovanna,Sikandar G. Khan,Richard A. Gatti,Kenneth H. Kraemer	41
9	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) 2013 ·Acta Neuropathologica Communications ·Jin-Ping Lai,(unknown),Meghna Alimchandani,Qingyan Liu,Phyu P. Aung,Kant Matsuda,Chyi‐Chia Richard Lee,Maria Tsokos,Stephen M. Hewitt,Elisabeth J. Rushing,Deborah Tamura,David Levens,John J. DiGiovanna,Howard A. Fine,Nicholas J. Patronas,Sikandar G. Khan,David E. Kleiner,J. Carl Oberholtzer,Martha Quezado,Kenneth H. Kraemer	37
10	Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature 2011 ·Survey of Ophthalmology ·Hema L. Ramkumar,Brian P. Brooks,Xiaoguang Cao,Deborah Tamura,John J. DiGiovanna,Kenneth H. Kraemer,Chi‐Chao Chan	50
11	Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations 2008 ·Journal of Medical Genetics ·(unknown),Deborah Tamura,Kenneth H. Kraemer,John J. DiGiovanna	168
12	Skin cancers, blindness, and anterior tongue mass in African brothers 2008 ·Journal of the American Academy of Dermatology ·(unknown),John J. DiGiovanna,Deborah Tamura,Jaime S. Brahim,Thomas J. Hornyak,Jere B. Stern,Chyi‐Chia Richard Lee,Sikandar G. Khan,(unknown),Janine A. Smith,(unknown),Andrew Montemarano,(unknown),Kenneth H. Kraemer	34
13	KRT14 Haploinsufficiency Results in Increased Susceptibility of Keratinocytes to TNF-α-Induced Apoptosis and Causes Naegeli–Franceschetti–Jadassohn Syndrome 2007 ·Journal of Investigative Dermatology ·Jennie Lugassy,John A. McGrath,Peter Itin,Revital Shemer,Julian Verbov,Helen Murphy,Akemi Ishida‐Yamamoto,John J. DiGiovanna,Dani Bercovich,Nathan Karin,Alon Vitenshtein,Jouni Uitto,Richard N. Bergman,Gabriele Richard,Eli Sprecher	23
14	Skin cancer chemoprevention with systemic retinoids: an adjunct in the management of selected high-risk patients 2006 ·Dermatologic Therapy ·ROSS M. CAMPBELL,John J. DiGiovanna	37
15	Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome 2004 ·Genetics in Medicine ·Virginia Kimonis,Sarju Mehta,John J. DiGiovanna,Sherri J. Bale,Behram Pastakia	131
16	Ichthyosiform dermatoses: So many discoveries, so little progress 2004 ·Journal of the American Academy of Dermatology ·John J. DiGiovanna	6
17	"Curly" Wood and Tiger Tails 2003 ·Archives of Dermatology ·Leonard C. Sperling,John J. DiGiovanna	19
18	Chemoprevention of Skin Cancer in Xeroderma Pigmentosum 1992 ·The Journal of Dermatology ·Kenneth H. Kraemer,John J. DiGiovanna,Gary L. Peck	70
19	Prevention of Skin Cancer in Xeroderma Pigmentosum with the Use of Oral Isotretinoin 1988 ·New England Journal of Medicine ·Kenneth H. Kraemer,John J. DiGiovanna,Alan N. Moshell,Robert E. Tarone,Gary L. Peck	428
20	Treatment and prevention of basal cell carcinoma with oral isotretinoin 1988 ·Journal of the American Academy of Dermatology ·Gary L. Peck,John J. DiGiovanna,Deborah S Sarnoff,Earl G. Gross,Danute Butkus,Thomas G. Olsen,Frank W. Yoder	88

About John J. DiGiovanna

John J. DiGiovanna is a scholar working on Dermatology, Cell Biology and Urology, having authored 152 papers that have together received 9.4k indexed citations. Recurring topics across this work include DNA Repair Mechanisms (38 papers), Skin and Cellular Biology Research (32 papers) and Retinoids in leukemia and cellular processes (20 papers). The work is most often cited by research in Dermatology (2.7k citations), Cell Biology (2.3k citations) and Molecular Biology (5.6k citations). John J. DiGiovanna has collaborated with scholars based in United States, Japan and United Kingdom. Frequent co-authors include Kenneth H. Kraemer, Sherri J. Bale, Gary L. Peck, John G. Compton, Deborah Tamura, Alisa M. Goldstein, Virginia Kimonis, Peter M. Steinert, Ronald G. Kase and A. Bale. Their work appears in journals such as New England Journal of Medicine, Cell and Proceedings of the National Academy of Sciences.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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