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Topic · Genetics

Congenital Ear and Nasal Anomalies

Congenital Ear and Nasal Anomalies is a research topic within Genetics. Science Explorer counts 8.8k 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 focuses on CHARGE syndrome, a genetic disorder caused by mutations in the CHD7 gene. It covers a wide range of topics including the phenotypic spectrum, diagnostic criteria, craniofacial and neurological abnormalities, as well as related conditions such as choanal atresia and hypogonadotropic hypogonadism.

  • CHD7 Gene
  • Genetic Mutations
  • Neural Crest Formation
  • Phenotypic Spectrum
  • Diagnostic Criteria
  • Craniofacial Development
  • Hypogonadotropic Hypogonadism
  • Choanal Atresia
  • Cochlear Implantation
  • Neurological Abnormalities
Research works
8.8k
fractional, since 1950
In the world top 10%
894
per year above
Top-10% rate
10.1%
share of its works in the world top 10%
Growth, 2018-21 → 2022-25
0%
the tick is no change
Largest producer
United States
29% of the 10 largest, 2022-now
Congenital Ear and Nasal Anomalies

This ranks research output and citation impact. It says nothing about the quality of diagnosis, treatment or care.

Which countries lead Congenital Ear and Nasal Anomalies research?

By volume, the United States and China publish the most (292 and 215 works in 2022-now).

By volume, 2022-now

  1. 1 United States 292 works
  2. 2 China 215 works
  3. 3 India 137 works
  4. 4 Japan 79 works
  5. 5 Türkiye 56 works
  6. 6 France 49 works
  7. 7 United Kingdom 49 works
  8. 8 Brazil 48 works
  9. 9 Germany 48 works
  10. 10 Italy 43 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: 28.7%China: 21.2%India: 13.5%Japan: 7.8%6 others listed: 28.9%29%largest
United States292 · 28.7%China215 · 21.2%India137 · 13.5%Japan79 · 7.8%6 others listed293 · 28.9%

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

Which institutions lead Congenital Ear and Nasal Anomalies research?

By volume in 2022-now, All India Institute of Medical Sciences publishes the most Congenital Ear and Nasal Anomalies research, followed by Harvard University and Shanghai Jiao Tong University.

By volume, 2022-now

  1. 1 All India Institute of Medical SciencesIndia 13 works
  2. 2 Harvard UniversityUnited States 11 works
  3. 3 Shanghai Jiao Tong UniversityChina 11 works
  4. 4 Capital Medical UniversityChina 11 works
  5. 5 Sichuan UniversityChina 9 works
  6. 6 Chinese Academy of Medical Sciences & Peking Union Medical CollegeChina 8 works
  7. 7 Zhejiang UniversityChina 7 works
  8. 8 Université Paris CitéFrance 7 works
  9. 9 InsermFrance 7 works
  10. 10 Universidade de São PauloBrazil 6 works

Who are the leading researchers in Congenital Ear and Nasal Anomalies?

The most-cited researchers publishing on Congenital Ear and Nasal Anomalies include Richard A. Gibbs, Marco A. Marra and Eric Boerwinkle.

  1. 1 Richard A. Gibbs United States 292k citations
  2. 2 Marco A. Marra Canada 245k citations
  3. 3 Eric Boerwinkle United States 232k citations
  4. 4 Kai You Wang China 224k citations
  5. 5 Evan E. Eichler United States 195k citations
  6. 6 Francis S. Collins United States 185k 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 Congenital Ear and Nasal Anomalies?

The most cited paper in Congenital Ear and Nasal Anomalies is "Identification of the Cystic Fibrosis Gene: Genetic Analysis" (Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan et al., 1989), with 4,164 citations. Next come "Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping" (3,269) and "Cleft lip and palate: understanding genetic and environmental influences" (2,022).

Most cited papers
#PaperReleasedCitations
1 Identification of the Cystic Fibrosis Gene: Genetic Analysis Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan et al. · Science 8 Sep 1989 4,164
2 Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping Johanna M. Rommens, Michael C. Iannuzzi, Bat-Sheva Kerem et al. · Science 8 Sep 1989 3,269
3 Cleft lip and palate: understanding genetic and environmental influences Michael James Dixon, Mary L. Marazita, Terri H. Beaty et al. · Nature Reviews Genetics ReviewOpen access 18 Feb 2011 2,022
4 Regulation of Rate of Cartilage Differentiation by Indian Hedgehog and PTH-Related Protein Andrea Vortkamp, Kaechoong Lee, Beate Lanske et al. · Science 2 Aug 1996 2,009
5 The mechanisms of Hedgehog signalling and its roles in development and disease James Briscoe, Pascal P. Thérond · Nature Reviews Molecular Cell Biology Review 30 May 2013 1,828
All 100 most cited papers, with filters and sorting

Where is Congenital Ear and Nasal Anomalies research done?

The largest centres of Congenital Ear and Nasal Anomalies research in 2022-now are Beijing (China), Tokyo (Japan), Paris (France) and Shanghai (China). Among places with at least 20 works in it, it is an unusually large share of all research in Tokyo.

Largest cities, 2022-now

  1. 1 BeijingChina 43 works
  2. 2 TokyoJapan 24 works
  3. 3 ParisFrance 22 works
  4. 4 ShanghaiChina 21 works
  5. 5 LondonUnited Kingdom 20 works
  6. 6 IstanbulTürkiye 18 works
  7. 7 MoscowRussia 18 works
  8. 8 New YorkUnited States 16 works
  9. 9 GuangzhouChina 14 works
  10. 10 São PauloBrazil 13 works

Where it is the local speciality

  1. TokyoJP · 23.6 works2.0×
← less than its size predicts1×more →

Location quotient: how much more of its research is in Congenital Ear and Nasal Anomalies than the world average.

See Congenital Ear and Nasal Anomalies on the map

Where is the best place to study Congenital Ear and Nasal Anomalies?

Among universities, judged by research, Harvard University, Sichuan University and All India Institute of Medical Sciences 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%mean 9.2%fractional works in this field (log) →share of work in the world top 10% →Harvard UniversitySichuan UniversityShanghai Jiao Tong U…All India Institute …
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
1Harvard UniversityUnited States 67.322.3%2.6×11 -15.1%
2Sichuan UniversityChina 52.419.9%3.3×10 +76.3%
3All India Institute of Medical SciencesIndia 50.00.9%9.2×13 +42.6%
4Shanghai Jiao Tong UniversityChina 37.23.9%2.9×11 +29.0%
5Capital Medical UniversityChina 31.44.0%7.7×10 -31.2%
6Chinese Academy of Medical Sciences & Peking Union Medical CollegeChina 18.84.2%6.1×8 -15.2%

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 Congenital Ear and Nasal Anomalies, country by country

Is Congenital Ear and Nasal Anomalies research growing?

Output in 2022-2025 was 0% lower than in 2018-2021, peaking in 2025.

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 Congenital Ear and Nasal Anomalies as a percentage of every work published that year, 0.0053% in 2024.

still counting0.0050%0.010%0.015%Congenital Ear and Nasal Anomalies0.0060% in 202519801990200020102020

Fractional works of Congenital Ear and Nasal Anomalies 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%Congenital Ear and Nasal Anomalies10.3% 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

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