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Topic · Clinical Biochemistry

Metabolism and Genetic Disorders

Metabolism and Genetic Disorders is a research topic within Clinical Biochemistry. Science Explorer counts 85k research works in it since 1950. 10.0% of them reached the world's top 10% most cited for their field and year.

This cluster of papers covers a wide range of topics related to metabolic disorders and biochemical genetics, including newborn screening, mitochondrial function, carnitine metabolism, phenylketonuria, tandem mass spectrometry, inborn errors of metabolism, tyrosine hydroxylase activity, and tetrahydrobiopterin biosynthesis. The papers discuss various aspects of diagnosis, management, and treatment of these disorders.

  • Metabolic Disorders
  • Biochemical Genetics
  • Newborn Screening
  • Mitochondrial Function
  • Carnitine
  • Phenylketonuria
  • Tandem Mass Spectrometry
  • Inborn Errors of Metabolism
  • Tyrosine Hydroxylase
  • Tetrahydrobiopterin
Research works
85k
fractional, since 1950
In the world top 10%
8.5k
per year above
Top-10% rate
10.0%
share of its works in the world top 10%
Growth, 2018-21 → 2022-25
+4%
the tick is no change
Largest producer
United States
36% of the 10 largest, 2022-now
Metabolism and Genetic Disorders

Which countries lead Metabolism and Genetic Disorders research?

By volume, the United States and China publish the most (2k and 1.1k works in 2022-now).

By volume, 2022-now

  1. 1 United States 2k works
  2. 2 China 1.1k works
  3. 3 India 479 works
  4. 4 Germany 369 works
  5. 5 Japan 354 works
  6. 6 United Kingdom 337 works
  7. 7 Italy 296 works
  8. 8 Türkiye 241 works
  9. 9 France 219 works
  10. 10 Spain 197 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: 35.9%China: 19.2%India: 8.6%Germany: 6.6%6 others listed: 29.6%36%largest
United States1,992 · 35.9%China1,068 · 19.2%India479 · 8.6%Germany369 · 6.6%6 others listed1,644 · 29.6%

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

Which institutions lead Metabolism and Genetic Disorders research?

By volume in 2022-now, Harvard University publishes the most Metabolism and Genetic Disorders research, followed by Shanghai Jiao Tong University and University College London.

By volume, 2022-now

  1. 1 Harvard UniversityUnited States 68 works
  2. 2 Shanghai Jiao Tong UniversityChina 41 works
  3. 3 University College LondonUnited Kingdom 41 works
  4. 4 Capital Medical UniversityChina 39 works
  5. 5 Russian Academy of SciencesRussia 38 works
  6. 6 Centre National de la Recherche ScientifiqueFrance 36 works
  7. 7 Mayo ClinicUnited States 34 works
  8. 8 National Institutes of HealthUnited States 33 works
  9. 9 Johns Hopkins UniversityUnited States 33 works
  10. 10 University of North Carolina at Chapel HillUnited States 32 works

Who are the leading researchers in Metabolism and Genetic Disorders?

The most-cited researchers publishing on Metabolism and Genetic Disorders 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 Robert John Tibshirani United States 396k citations
  8. 8 Guido Kroemer France 386k citations
  9. 9 Zulfiqar Ahmed Bhutta Pakistan 371k citations
  10. 10 John J.V. McMurray United Kingdom 349k 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 Metabolism and Genetic Disorders?

The most cited paper in Metabolism and Genetic Disorders is "Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees." (Koichiro Tamura, M Nei, 1993), with 11,497 citations. Next come "Estimation of total, protein-bound, and nonprotein sulfhydryl groups in tissue with Ellman's reagent" (8,107) and "Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases" (6,522).

Most cited papers
#PaperReleasedCitations
1 Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees. Koichiro Tamura, M Nei · Molecular Biology and Evolution Open access May 1993 11,497
2 Estimation of total, protein-bound, and nonprotein sulfhydryl groups in tissue with Ellman's reagent Jozef Sedlak, Raymond H. Lindsay · Analytical Biochemistry 1968 8,107
3 Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases Michael T. S. Lin, M. Flint Beal · Nature Oct 2006 6,522
4 The Thiobarbituric Acid Assay of Sialic Acids Leonard Warren · Journal of Biological Chemistry Open access Aug 1959 6,453
5 ILAE Official Report: A practical clinical definition of epilepsy Robert S. Fisher, Carlos Alberto Acevedo, Alexis A. Arzimanoglou et al. · Epilepsia Open access Apr 2014 6,110
All 99 most cited papers, with filters and sorting

Where is Metabolism and Genetic Disorders research done?

The largest centres of Metabolism and Genetic Disorders research in 2022-now are Beijing (China), London (United Kingdom), Tokyo (Japan) and Shanghai (China). Among places with at least 20 works in it, it is an unusually large share of all research in Portland.

Largest cities, 2022-now

  1. 1 BeijingChina 166 works
  2. 2 LondonUnited Kingdom 107 works
  3. 3 TokyoJapan 96 works
  4. 4 ShanghaiChina 94 works
  5. 5 ParisFrance 86 works
  6. 6 MoscowRussia 80 works
  7. 7 New YorkUnited States 75 works
  8. 8 MadridSpain 65 works
  9. 9 PhiladelphiaUnited States 64 works
  10. 10 TehranIran 64 works

Where it is the local speciality

  1. PortlandUS · 23.3 works4.5×
← less than its size predicts1×more →

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

See Metabolism and Genetic Disorders on the map

Where is the best place to study Metabolism and Genetic Disorders?

Among universities, judged by research, Harvard University, Johns Hopkins University and University College London 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%20%40%mean 21.27%fractional works in this field (log) →share of work in the world top 10% →University of Cambri…University College L…Harvard UniversityJohns Hopkins Univer…
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 65.813.7%3.0×68 -1.3%
2Johns Hopkins UniversityUnited States 60.412.9%3.1×33 +14.2%
3University College LondonUnited Kingdom 59.317.1%3.7×41 -10.6%
4University of CambridgeUnited Kingdom 59.034.2%2.2×18 -35.3%
5Wuhan UniversityChina 55.142.8%1.0×10 +43.7%
6McGill UniversityCanada 53.621.6%2.2×16 +26.0%
7University of PennsylvaniaUnited States 53.515.5%3.2×24 +23.3%
8Northwestern UniversityUnited States 52.613.4%4.4×26 +41.5%
9Karolinska InstitutetSweden 52.419.5%4.2×16 -11.9%
10Vanderbilt UniversityUnited States 52.422.0%2.8×14 +50.9%

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 Metabolism and Genetic Disorders, country by country

Is Metabolism and Genetic Disorders research growing?

Output in 2022-2025 was 4% higher than in 2018-2021, peaking in 2024. The fastest-growing topics are Metabolism and Genetic Disorders.

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 Metabolism and Genetic Disorders as a percentage of every work published that year, 0.037% in 2024.

still counting0.20%0.40%Metabolism and Genetic Disorders0.033% in 202519801990200020102020

Fractional works of Metabolism and Genetic 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%Metabolism and Genetic Disorders10.1% 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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