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Genetics and Neurodevelopmental Disorders

Genetics and Neurodevelopmental Disorders is a research topic within Genetics. Science Explorer counts 36k research works in it since 1951. 10.0% of them reached the world's top 10% most cited for their field and year.

This cluster of papers focuses on the molecular basis, genetic mutations, and neurological manifestations of Rett syndrome and related disorders such as Fragile X syndrome. It explores the role of MeCP2, synaptic function, autism-like behaviors, and altered brain development in these conditions.

  • Rett Syndrome
  • Fragile X Syndrome
  • MeCP2
  • Neurological Disease
  • Synaptic Function
  • Autism
  • mGluR theory
  • Dendritic Spines
  • Brain Development
  • Genetic Mutations
Research works
36k
fractional, since 1951
In the world top 10%
3.6k
per year above
Top-10% rate
10.0%
share of its works in the world top 10%
Growth, 2018-21 → 2022-25
-2%
the tick is no change
Largest producer
United States
38% of the 10 largest, 2022-now
Genetics and Neurodevelopmental Disorders

Which countries lead Genetics and Neurodevelopmental Disorders research?

By volume, the United States and China publish the most (1.8k and 958 works in 2022-now).

By volume, 2022-now

  1. 1 United States 1.8k works
  2. 2 China 958 works
  3. 3 Italy 333 works
  4. 4 India 318 works
  5. 5 United Kingdom 306 works
  6. 6 Japan 262 works
  7. 7 Germany 237 works
  8. 8 Canada 220 works
  9. 9 France 187 works
  10. 10 Spain 182 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: 38.1%China: 19.7%Italy: 6.9%India: 6.6%6 others listed: 28.7%38%largest
United States1,850 · 38.1%China958 · 19.7%Italy333 · 6.9%India318 · 6.6%6 others listed1,394 · 28.7%

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

Which institutions lead Genetics and Neurodevelopmental Disorders research?

By volume in 2022-now, Harvard University publishes the most Genetics and Neurodevelopmental Disorders research, followed by Russian Academy of Sciences and University of Toronto.

By volume, 2022-now

  1. 1 Harvard UniversityUnited States 86 works
  2. 2 Russian Academy of SciencesRussia 44 works
  3. 3 University of TorontoCanada 44 works
  4. 4 National Institutes of HealthUnited States 42 works
  5. 5 Centre National de la Recherche ScientifiqueFrance 41 works
  6. 6 InsermFrance 40 works
  7. 7 University of California, DavisUnited States 40 works
  8. 8 Johns Hopkins UniversityUnited States 39 works
  9. 9 University of North Carolina at Chapel HillUnited States 36 works
  10. 10 University College LondonUnited Kingdom 35 works

Who are the leading researchers in Genetics and Neurodevelopmental Disorders?

The most-cited researchers publishing on Genetics and Neurodevelopmental Disorders include Eric S. Lander, George Davey Smith and Richard M. Durbin.

  1. 1 Eric S. Lander United States 524k citations
  2. 2 George Davey Smith United Kingdom 435k citations
  3. 3 Richard M. Durbin United Kingdom 410k citations
  4. 4 Mark J. Daly United States 403k citations
  5. 5 Stacey L. Gabriel United States 402k citations
  6. 6 Julian P. T. Higgins United Kingdom 390k citations
  7. 7 Guido Kroemer France 386k citations
  8. 8 Bert Vogelstein United States 373k citations
  9. 9 Ronald C. Kessler United States 360k citations
  10. 10 Elaine R. Mardis United States 346k 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 Genetics and Neurodevelopmental Disorders?

The most cited paper in Genetics and Neurodevelopmental Disorders is "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls" (Paul R. Burton et al., 2007), with 9,692 citations. Next come "Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy" (8,958) and "A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes" (8,489).

Most cited papers
#PaperReleasedCitations
1 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls Paul R. Burton et al. · Nature Open access276 authors 6 Jun 2007 9,692
2 Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy Shikshya Shrestha, Steven M. Offer · Medical Epigenetics Open access 23 Mar 2016 8,958
3 A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes Marcy E. MacDonald · Cell Open access Mar 1993 8,489
4 The Autism Diagnostic Observation Schedule—Generic: A Standard Measure of Social and Communication Deficits Associated with the Spectrum of Autism Catherine Lord, Susan Risi, Linda Lambrecht et al. · Journal of Autism and Developmental Disorders Jun 2000 7,623
5 DNA methylation patterns and epigenetic memory Adrian Peter Bird · Genes & Development Open access 2002 7,213
All 98 most cited papers, with filters and sorting

Where is Genetics and Neurodevelopmental Disorders research done?

The largest centres of Genetics and Neurodevelopmental Disorders research in 2022-now are Beijing (China), London (United Kingdom), Shanghai (China) and Paris (France). Among places with at least 20 works in it, it is an unusually large share of all research in Birmingham, Davis and Nijmegen.

Largest cities, 2022-now

  1. 1 BeijingChina 123 works
  2. 2 LondonUnited Kingdom 108 works
  3. 3 ShanghaiChina 89 works
  4. 4 ParisFrance 86 works
  5. 5 New YorkUnited States 85 works
  6. 6 RomeItaly 75 works
  7. 7 BostonUnited States 70 works
  8. 8 GuangzhouChina 70 works
  9. 9 TokyoJapan 69 works
  10. 10 MoscowRussia 64 works

Where it is the local speciality

  1. BirminghamUS · 24.1 works6.8×
  2. DavisUS · 29.8 works6.2×
  3. NijmegenNL · 21.1 works5.1×
  4. BethesdaUS · 39.3 works5.1×
← less than its size predicts1×more →

Location quotient: how much more of its research is in Genetics and Neurodevelopmental Disorders than the world average.

See Genetics and Neurodevelopmental Disorders on the map

Where is the best place to study Genetics and Neurodevelopmental Disorders?

Among universities, judged by research, Harvard University, Massachusetts Institute of Technology and University of California, Davis 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 16.16%fractional works in this field (log) →share of work in the world top 10% →Massachusetts Instit…Radboud University N…University of Califo…Harvard University
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 67.214.7%4.7×86 -7.9%
2Massachusetts Institute of TechnologyUnited States 58.128.4%2.4×10 +9.3%
3University of California, DavisUnited States 54.817.6%8.7×40 -28.5%
4Radboud University NijmegenNetherlands 52.123.4%5.8×20 -33.8%
5Johns Hopkins UniversityUnited States 51.010.8%4.4×39 -6.8%
6University of Alabama at BirminghamUnited States 50.710.6%8.3×23 +65.1%
7University College LondonUnited Kingdom 50.013.4%3.8×35 -18.1%
8University of PennsylvaniaUnited States 49.516.8%4.2×25 -0.7%
9University of California, Los AngelesUnited States 48.716.8%3.3×21 +0.9%
10University of TorontoCanada 48.09.1%3.8×44 -15.3%

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 Genetics and Neurodevelopmental Disorders, country by country

Is Genetics and Neurodevelopmental Disorders research growing?

Output in 2022-2025 was 2% lower than in 2018-2021, peaking in 2021.

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 Genetics and Neurodevelopmental Disorders as a percentage of every work published that year, 0.029% in 2024.

still counting0.020%0.040%0.060%Genetics and Neurodevelopmental Disorders0.026% in 202519801990200020102020

Fractional works of Genetics and Neurodevelopmental Disorders 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%Genetics and Neurodevelopmental Disorders10.0% 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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