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Topic · Genetics

Genetic Syndromes and Imprinting

Genetic Syndromes and Imprinting is a research topic within Genetics. Science Explorer counts 22k research works in it since 1950. 10.1% of them reached the world's top 10% most cited for their field and year.

This cluster of papers explores the phenomenon of genomic imprinting, where certain genes are expressed in a parent-of-origin-specific manner. It covers topics such as parental influence on gene expression, epigenetic regulation through DNA methylation, and the role of imprinted genes in syndromes like Prader-Willi and Angelman. Additionally, it delves into the mechanisms of imprint control regions and the involvement of non-coding RNA in regulating imprinted gene networks.

  • Genomic Imprinting
  • Parental Influence
  • Epigenetic Regulation
  • Imprinted Genes
  • Prader-Willi Syndrome
  • Angelman Syndrome
  • DNA Methylation
  • Gene Expression
  • Imprint Control Region
  • Non-coding RNA
Research works
22k
fractional, since 1950
In the world top 10%
2.2k
per year above
Top-10% rate
10.1%
share of its works in the world top 10%
Growth, 2018-21 → 2022-25
+1%
the tick is no change
Largest producer
United States
34% of the 10 largest, 2022-now
Genetic Syndromes and Imprinting

Which countries lead Genetic Syndromes and Imprinting research?

By volume, the United States and China publish the most (865 and 629 works in 2022-now).

By volume, 2022-now

  1. 1 United States 865 works
  2. 2 China 629 works
  3. 3 India 193 works
  4. 4 Italy 166 works
  5. 5 Japan 162 works
  6. 6 United Kingdom 152 works
  7. 7 Germany 111 works
  8. 8 France 107 works
  9. 9 Spain 104 works
  10. 10 Türkiye 78 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: 33.7%China: 24.5%India: 7.5%Italy: 6.5%6 others listed: 27.8%34%largest
United States865 · 33.7%China629 · 24.5%India193 · 7.5%Italy166 · 6.5%6 others listed712 · 27.8%

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

Which institutions lead Genetic Syndromes and Imprinting research?

By volume in 2022-now, Harvard University publishes the most Genetic Syndromes and Imprinting research, followed by Shanghai Jiao Tong University and University of North Carolina at Chapel Hill.

By volume, 2022-now

  1. 1 Harvard UniversityUnited States 40 works
  2. 2 Shanghai Jiao Tong UniversityChina 26 works
  3. 3 University of North Carolina at Chapel HillUnited States 22 works
  4. 4 InsermFrance 21 works
  5. 5 Mayo ClinicUnited States 19 works
  6. 6 National Institutes of HealthUnited States 18 works
  7. 7 Zhejiang UniversityChina 18 works
  8. 8 All India Institute of Medical SciencesIndia 18 works
  9. 9 Sichuan UniversityChina 17 works
  10. 10 University of PennsylvaniaUnited States 15 works

Who are the leading researchers in Genetic Syndromes and Imprinting?

The most-cited researchers publishing on Genetic Syndromes and Imprinting include Eric S. Lander, George Davey Smith and Walter Churchill Willett.

  1. 1 Eric S. Lander United States 524k citations
  2. 2 George Davey Smith United Kingdom 435k citations
  3. 3 Walter Churchill Willett United States 411k citations
  4. 4 Mark J. Daly United States 403k citations
  5. 5 Stacey L. Gabriel United States 402k citations
  6. 6 Peer Bork Germany 396k citations
  7. 7 Elaine R. Mardis United States 346k citations
  8. 8 Hermann Brenner Germany 343k citations
  9. 9 Shizuo Akira Japan 342k citations
  10. 10 Cyrus Cooper United Kingdom 342k 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 Syndromes and Imprinting?

The most cited paper in Genetic Syndromes and Imprinting is "Principal components analysis corrects for stratification in genome-wide association studies" (Alkes L. Price, Nick J. Patterson, Robert M. Plenge et al., 2006), with 10,883 citations. Next come "Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression" (10,872) and "DNA Methyltransferases Dnmt3a and Dnmt3b Are Essential for De Novo Methylation and Mammalian Development" (6,189).

Most cited papers
#PaperReleasedCitations
1 Principal components analysis corrects for stratification in genome-wide association studies Alkes L. Price, Nick J. Patterson, Robert M. Plenge et al. · Nature Genetics 23 Jul 2006 10,883
2 Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression Jack Bowden, George Davey Smith, Stephen Burgess · International Journal of Epidemiology Open access Apr 2015 10,872
3 DNA Methyltransferases Dnmt3a and Dnmt3b Are Essential for De Novo Methylation and Mammalian Development Masaki Okano, Daphne W. Bell, Daniel A. Haber et al. · Cell Open access Oct 1999 6,189
4 Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. James Gordon Herman, Jeremy Richard Graff, Sanna Myöhänen et al. · Proceedings of the National Academy of Sciences Open access 3 Sep 1996 5,687
5 Genome-wide maps of chromatin state in pluripotent and lineage-committed cells Tarjei S. Mikkelsen et al. · Nature Open access Jul 2007 4,237
All 99 most cited papers, with filters and sorting

Where is Genetic Syndromes and Imprinting research done?

The largest centres of Genetic Syndromes and Imprinting research in 2022-now are Beijing (China), Shanghai (China), Paris (France) and New York (United States). Among places with at least 20 works in it, it is an unusually large share of all research in Philadelphia.

Largest cities, 2022-now

  1. 1 BeijingChina 79 works
  2. 2 ShanghaiChina 62 works
  3. 3 ParisFrance 48 works
  4. 4 New YorkUnited States 45 works
  5. 5 TokyoJapan 43 works
  6. 6 LondonUnited Kingdom 43 works
  7. 7 GuangzhouChina 42 works
  8. 8 PhiladelphiaUnited States 38 works
  9. 9 BostonUnited States 32 works
  10. 10 MilanItaly 32 works

Where it is the local speciality

  1. PhiladelphiaUS · 37.9 works4.2×
← less than its size predicts1×more →

Location quotient: how much more of its research is in Genetic Syndromes and Imprinting than the world average.

See Genetic Syndromes and Imprinting on the map

Where is the best place to study Genetic Syndromes and Imprinting?

Among universities, judged by research, Harvard University, University of Cambridge and University of British Columbia score highest, combining 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 19.09%fractional works in this field (log) →share of work in the world top 10% →University of Britis…University of Cambri…Harvard UniversityErasmus University R…
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.

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
1Harvard UniversityUnited States 79.420.4%4.1×40 -21.3%
2University of CambridgeUnited Kingdom 57.422.9%3.0×11 -43.1%
3University of British ColumbiaCanada 57.128.0%2.3×9 +17.2%
4Erasmus University RotterdamNetherlands 54.415.6%8.7×14 -29.8%
5Shanghai Jiao Tong UniversityChina 53.312.0%3.0×26 +14.2%
6Stanford UniversityUnited States 53.022.7%2.3×10 +3.2%
7Johns Hopkins UniversityUnited States 52.819.8%2.6×12 -24.7%
8Yale UniversityUnited States 51.115.2%3.9×13 +12.4%
9University of KansasUnited States 51.119.7%6.2×10 +5.7%
10University of TorontoCanada 51.014.6%2.2×14 -2.2%

Universities only. The score blends 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 Syndromes and Imprinting, country by country

Is Genetic Syndromes and Imprinting research growing?

Output in 2022-2025 was 1% higher than in 2018-2021, peaking in 2021. The fastest-growing topics are Genetic Syndromes and Imprinting.

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 Syndromes and Imprinting as a percentage of every work published that year, 0.014% in 2024.

still counting0.020%0.040%Genetic Syndromes and Imprinting0.014% in 202519801990200020102020

Fractional works of Genetic Syndromes and Imprinting 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 Syndromes and Imprinting10.0% 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.

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