Science Explorer Back to mapMap
Discussion
Topic · Genetics

Genetic and rare skin diseases.

Genetic and rare skin diseases. is a research topic within Genetics. Science Explorer counts 15k research works in it since 1950. 10.3% of them reached the world's top 10% most cited for their field and year.

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.

  • Genomic Rearrangement
  • Skin Diseases
  • NEMO Mutations
  • ATP2C1 Mutations
  • NF-?B Activation
  • Epidermal Nevus Syndromes
  • Segmental Manifestation
  • Calcium Pump Disorders
  • Incontinentia Pigmenti
  • Darier Disease
Research works
15k
fractional, since 1950
In the world top 10%
1.5k
per year above
Top-10% rate
10.3%
share of its works in the world top 10%
Growth, 2018-21 → 2022-25
+9%
the tick is no change
Largest producer
United States
26% of the 10 largest, 2022-now
Genetic and rare skin diseases.

Which countries lead Genetic and rare skin diseases. research?

By volume, the United States and India publish the most (502 and 447 works in 2022-now).

By volume, 2022-now

  1. 1 United States 502 works
  2. 2 India 447 works
  3. 3 China 302 works
  4. 4 Spain 119 works
  5. 5 France 105 works
  6. 6 Italy 105 works
  7. 7 United Kingdom 91 works
  8. 8 Japan 90 works
  9. 9 Germany 89 works
  10. 10 Brazil 81 works

How concentrated that is

The same countries as shares of everything the list above accounts for. A node where two countries do two thirds of the work and one spread evenly across twelve read alike as a ranking and not at all alike here.

United States: 26.0%India: 23.1%China: 15.7%Spain: 6.2%6 others listed: 29.0%26%largest
United States502 · 26.0%India447 · 23.1%China302 · 15.7%Spain119 · 6.2%6 others listed561 · 29.0%

Shares of the rows listed above, not of the whole node.

Which institutions lead Genetic and rare skin diseases. research?

By volume in 2022-now, All India Institute of Medical Sciences publishes the most Genetic and rare skin diseases. research, followed by Chinese Academy of Medical Sciences & Peking Union Medical College and Shanghai Jiao Tong University.

By volume, 2022-now

  1. 1 All India Institute of Medical SciencesIndia 63 works
  2. 2 Chinese Academy of Medical Sciences & Peking Union Medical CollegeChina 18 works
  3. 3 Shanghai Jiao Tong UniversityChina 18 works
  4. 4 Université Paris CitéFrance 16 works
  5. 5 University of DelhiIndia 16 works
  6. 6 Banaras Hindu UniversityIndia 15 works
  7. 7 Post Graduate Institute of Medical Education and ResearchIndia 14 works
  8. 8 Zhejiang UniversityChina 12 works
  9. 9 University of FreiburgGermany 12 works
  10. 10 Mayo ClinicUnited States 11 works

Who are the leading researchers in Genetic and rare skin diseases.?

The most-cited researchers publishing on Genetic and rare skin diseases. include Jost Bruno Jonas, Jun Wang and Gregory Y.H. Lip.

  1. 1 Jost Bruno Jonas Germany 350k citations
  2. 2 Jun Wang China 340k citations
  3. 3 Gregory Y.H. Lip United Kingdom 311k citations
  4. 4 Kaj Blennow Sweden 247k citations
  5. 5 Nicholas G. Martin Australia 228k citations
  6. 6 Dirk Schadendorf Germany 222k citations
  7. 7 Kāri Stefánsson Iceland 211k citations
  8. 8 Henrik Zetterberg Sweden 193k citations

Ranked by citations received across their whole record, among researchers with at least three works on this topic.

What are the most cited papers in Genetic and rare skin diseases.?

The most cited paper in Genetic and rare skin diseases. is "Altered Neural Cell Fates and Medulloblastoma in Mouse patched Mutants" (Lisa V. Goodrich, Ljiljana Milenković, Kay M. Higgins et al., 1997), with 1,723 citations. Next come "Inhibition of Hedgehog signaling by direct binding of cyclopamine to Smoothened" (1,490) and "Activating Smoothened mutations in sporadic basal-cell carcinoma" (1,349).

Most cited papers
#PaperReleasedCitations
1 Altered Neural Cell Fates and Medulloblastoma in Mouse patched Mutants Lisa V. Goodrich, Ljiljana Milenković, Kay M. Higgins et al. · Science 22 Aug 1997 1,723
2 Inhibition of Hedgehog signaling by direct binding of cyclopamine to Smoothened James Chen, Jussi Taipale, Michael K. Cooper et al. · Genes & Development Open access Nov 2002 1,490
3 Activating Smoothened mutations in sporadic basal-cell carcinoma Jingwu Xie, Maximilien Murone, Shiuh-Ming Luoh et al. · Nature 1998 1,349
4 Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine Jussi Taipale, James Chen, Michael K. Cooper et al. · Nature Aug 2000 1,328
5 The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog Donna M. Stone, Mary Hynes, Mark P. Armanini et al. · Nature Nov 1996 1,121
All 99 most cited papers, with filters and sorting

Where is Genetic and rare skin diseases. research done?

The largest centres of Genetic and rare skin diseases. research in 2022-now are New Delhi (India), Beijing (China), London (United Kingdom) and Paris (France). Among places with at least 20 works in it, it is an unusually large share of all research in Puducherry.

Largest cities, 2022-now

  1. 1 New DelhiIndia 65 works
  2. 2 BeijingChina 52 works
  3. 3 LondonUnited Kingdom 39 works
  4. 4 ParisFrance 37 works
  5. 5 ShanghaiChina 33 works
  6. 6 MadridSpain 30 works
  7. 7 ChennaiIndia 24 works
  8. 8 BengaluruIndia 23 works
  9. 9 PuducherryIndia 21 works
  10. 10 New YorkUnited States 21 works

Where it is the local speciality

  1. PuducherryIN · 21.5 works18×
← less than its size predicts1×more →

Location quotient: how much more of its research is in Genetic and rare skin diseases. than the world average.

See Genetic and rare skin diseases. on the map

Where is the best place to study Genetic and rare skin diseases.?

Among universities, judged by research, University College London, Yale University and Shanghai Jiao Tong University score highest, combining citation excellence, specialisation, size, growth and international reach. Research strength is one signal when choosing where to study; it does not measure teaching.

0%10%20%30%mean 17.3%fractional works in this field (log) →share of work in the world top 10% →University College L…Northwestern Univers…Yale UniversityShanghai Jiao Tong U…
above the meannear itbelow it

One dot per university in the first ten of the table below, at the default weights. The upper left is the interesting corner: small places doing unusually strong work.

Citation excellenceshare of its work in the world top 10%, 2022-now and all time averaged
40%
Specialisationhow much of its work is in this field, counted up to 10× the world share
10%
Sizeits output in this field, on a log scale
30%
Growthoutput growth, counted from -20% to +20%
10%
Internationalshare of its work with a co-author abroad
10%
Each slider sets a weight; the share it gets of the score is beside it.
#UniversityScoreTop 10%SpecialisationWorksGrowth
1University College LondonUnited Kingdom 67.026.0%2.7×10 +52.6%
2Yale UniversityUnited States 61.420.5%4.0×11 +30.3%
3Shanghai Jiao Tong UniversityChina 59.418.5%2.5×18 +97.7%
4Northwestern UniversityUnited States 58.722.4%4.1×8 +16.3%
5All India Institute of Medical SciencesIndia 55.83.4%23.7×63 +92.1%
6Capital Medical UniversityChina 53.624.1%4.0×10 +39.7%
7University of FreiburgGermany 52.918.2%10.5×12 +2.9%
8Chinese Academy of Medical Sciences & Peking Union Medical CollegeChina 52.012.5%7.2×18 +31.2%
9Université Paris CitéFrance 50.36.5%9.1×16 +20.7%
10Harvard UniversityUnited States 49.420.9%1.4×10 -29.6%

Universities only. The score blends citation excellence (40%), size (30%), specialisation (10%), growth (10%), international reach (10%), 2022-now; growth compares 2018-21 with 2022-25 and counts up to +20%, since a jump from a small base is mostly noise.

Every institution in Genetic and rare skin diseases., country by country

Is Genetic and rare skin diseases. research growing?

Output in 2022-2025 was 9% higher than in 2018-2021, peaking in 2025. The fastest-growing topics are Genetic and rare skin diseases..

still counting19801990200020102020
grewheldshrank

The same series as a ribbon: one cell per year, darker for more. The line above answers how much; this answers when.

Its share of all research

Growing output can still be a shrinking share: all of science grows. This is Genetic and rare skin diseases. as a percentage of every work published that year, 0.011% in 2024.

still counting0.010%0.020%0.030%Genetic and rare skin diseases.0.012% in 202519801990200020102020

Fractional works of Genetic and rare skin diseases. over all fractional works that year. How the balance of science has shifted.

How much of it reaches the world top 10%

Year by year.

still counting5%10%15%Genetic and rare skin diseases.9.9% in 2025200020102020

Of each year's works in it, the share that reached the world's 10% most cited for their field and year. A field is the world for its own topics, so there is no other line to hold it against.

Which topics inside it are moving

Growth and decline on one axis around a shared zero. Two lists side by side hide the thing that matters: whether the growth dwarfs the decline, or the other way round.

Discussion

Ask a question or share a note about Genetic and rare skin diseases.. Keep it to the research: no personal attacks, advertising or links. Any reader can report a post, which collapses it for everyone until it is opened.