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Genetic and rare skin diseases.
TopicLeading institutions, researchers & key papers
This cluster of papers focuses on genomic rearrangement disorders in skin diseases, particularly related to mutations in NEMO, ATP2C1, and other genes affecting NF-?B activation and calcium pump function. It covers a wide range of conditions such as incontinentia pigmenti, Hailey-Hailey disease, epidermal nevus syndromes, and Darier disease, providing insights into the molecular basis, clinical manifestations, and potential therapeutic targets for these disorders.
41
Works
IDs:OpenAlex
How has Genetic and rare skin diseases.'s publication output changed over time?
ScholarIQpublication output · 1968–2017
Output grew0% over the shown period — from 1 works in 1968 to 1 in 2017.
1
1
1
1
2
1
1
1
19681989200020062008201120162017
What are the most-cited papers on Genetic and rare skin diseases.?
ScholarIQmost cited works
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
James T. Bennett, Tiong Yang Tan, Diana Alcantara, Martine Tétrault, Andrew E. Timms, Dana M. Jensen, Sarah Collins, Małgorzata J.M. Nowaczyk, Marjorie J. Lindhurst, Katherine Christensen, Stephen R. Braddock, Heather A. Brandling‐Bennett, Raoul C. M. Hennekam, Brian Hon‐Yin Chung, Anna Lehman, John Su, SuYuen Ng, David J. Amor, Jacek Majewski, Les Biesecker, Kym M. Boycott, William B. Dobyns, Mark O’Driscoll, Ute Moog, Laura M. McDonell
S134425043. 2016110 CitationsOPEN ACCESS
Histopathology of skin lesions in renal allograft recipients—an assessment of viral features and dysplasia
Karen Blessing, K M McLaren, E. C. Benton, Bryce Barr, Mary H. Bunney, I. W. Smith, G. W. Beveridge
S14376486. 198982 Citations
Darier disease: A rare genodermatosis
Hema Suryawanshi, Akshay Dhobley, Aparna Sharma, Pramod Kumar
S167769348. 201751 Citations
Three novel mutations in the <i>PORCN</i> gene underlying focal dermal hypoplasia
P Leoyklang, Kanya Suphapeetiporn, Siriwan Wananukul, Vorasuk Shotelersuk
S4954800. 200850 CitationsOPEN ACCESS
Where is Genetic and rare skin diseases. research published, and who funds it?
ScholarIQvenues & funding sources
TOP JOURNALS
S134425043110
S1437648682
S11864976368
S16776934851
S495480050
TOP FUNDERS
National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
Funder breakdown is a member featureSign up free to unlock
How much of the research on Genetic and rare skin diseases. is open access?
ScholarIQopen access share
33%OPEN ACCESS
Gold
11%
Green
0%
Hybrid
0%
Bronze
22%
Closed
67%
Related on ScholarIQ
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
Paper
A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO)
Paper
Risk factors for diabetes insipidus in langerhans cell histiocytosis
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Fetal DNA in skin of polymorphic eruptions of pregnancy
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Standardization of dermoscopic terminology and basic dermoscopic parameters to evaluate in general dermatology (non‐neoplastic dermatoses): an expert consensus on behalf of the International Dermoscopy Society
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