United Kingdom (UK)

1 December 2019 - 30 November 2020

Subject/journal group: All

The table to the right includes counts of all research outputs for United Kingdom (UK) published between 1 December 2019 - 30 November 2020 which are tracked by the Nature Index.

Hover over the donut graph to view the FC output for each subject. Below, the same research outputs are grouped by subject. Click on the subject to drill-down into a list of articles organized by journal, and then by title.

Note: Articles may be assigned to more than one subject area.

Count Share
8082 3835.90

Outputs by subject (FC)

Subject Count Share
Life Sciences 3596 1657.62
53 17.56
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
2020-11-21
0.60
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk.
2020-11-05
0.16
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
2020-11-05
0.07
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
2020-11-05
0.44
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
2020-11-03
0.15
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
2020-10-28
0.03
Lessons Learned from Bugs in Models of Human History.
2020-10-01
0.25
Roadmap for Establishing Large-Scale Genomic Medicine Initiatives in Low- and Middle-Income Countries.
2020-10-01
0.14
Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?
2020-09-14
0.29
Ovarian Cancer Risk Variants Are Enriched in Histotype-Specific Enhancers and Disrupt Transcription Factor Binding Sites.
2020-09-12
0.21
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
2020-09-03
0.54
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
2020-08-31
0.03
Inferring Gene-by-Environment Interactions with a Bayesian Whole-Genome Regression Model.
2020-08-27
0.50
Genome-wide Study Identifies Association between HLA-B∗55:01 and Self-Reported Penicillin Allergy.
2020-08-26
0.14
eQTL Colocalization Analyses Identify NTN4 as a Candidate Breast Cancer Risk Gene.
2020-08-21
0.07
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
2020-08-20
0.11
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
2020-08-06
0.13
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
2020-08-06
0.23
Genetic Consequences of the Transatlantic Slave Trade in the Americas.
2020-08-06
0.11
High Levels of Genetic Diversity within Nilo-Saharan Populations: Implications for Human Adaptation.
2020-08-06
0.19
Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates.
2020-08-06
1
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk
2020-07-29
0.03
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
2020-07-29
0.13
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease
2020-07-23
0.70
A Platelet Function Modulator of Thrombin Activation Is Causally Linked to Cardiovascular Disease and Affects PAR4 Receptor Signaling
2020-07-04
0.23
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects
2020-07-02
0.06
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
2020-06-12
0.04
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
2020-06-04
0.09
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
2020-06-04
0.02
A Genetic History of the Near East from an aDNA Time Course Sampling Eight Points in the Past 4,000 Years.
2020-05-25
0.33
Characterizing the Causal Pathway for Genetic Variants Associated with Neurological Phenotypes Using Human Brain-Derived Proteome Data.
2020-05-10
1
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts.
2020-05-07
0.73
Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning.
2020-05-07
1
Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval.
2020-04-29
1
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.
2020-04-29
0.33
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
2020-03-31
0.16
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
2020-03-26
0.16
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
2020-03-18
0.10
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
2020-03-05
0.70
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
2020-02-25
0.09
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
2020-02-25
0.32
Genome-Wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.
2020-02-20
0.26
Smoking, DNA Methylation, and Lung Function: a Mendelian Randomization Analysis to Investigate Causal Pathways.
2020-02-17
1
Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci.
2020-02-05
0.65
Allele-Specific QTL Fine Mapping with PLASMA.
2020-01-22
0.07
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
2020-01-20
0.63
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
2020-01-17
0.53
A Multi-tissue Transcriptome Analysis of Human Metabolites Guides Interpretability of Associations Based on Multi-SNP Models for Gene Expression.
2020-01-16
1
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
2020-01-03
0.13
A Robust Method Uncovers Significant Context-Specific Heritability in Diverse Complex Traits.
2020-01-02
0.17
Pathogenic Bi-Allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
2019-12-18
0.40
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
2019-12-17
0.10
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.
2019-12-13
0.02
16 8.38
44 19.89
62 20.17
17 8.05
20 6.88
24 12.23
122 68.47
28 18.28
38 17.02
11 7.85
25 11.32
18 9.01
124 69.98
31 23.23
60 24.37
25 8.72
64 40.25
42 18.65
60 22.56
189 69.53
27 7.27
20 7.15
20 8.63
781 349.74
44 14.27
25 11.47
63 22.63
22 9.23
15 5.01
26 16
26 10.59
70 35.58
81 40.79
415 186.08
166 89.50
111 40.45
154 54.42
40 14.41
47 24.73
29 13.41
20 9.76
321 184.11
Earth & Environmental Sciences 1252 531.17
Chemistry 1812 1040.02
Physical Sciences 2552 1094.78

1 December 2019 - 30 November 2020

View the connected world of international research collaboration. Visualize collaborations by subject or region.

Collaborations between countries

Percentage of collaboration by Share

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Top 10 collaborators by Share

  • United Kingdom (UK)
  1. 831.17
    1144.34
  2. Germany (932.07)
    468.17
    463.90
  3. China (793.94)
    310.26
    483.68
  4. France (514.46)
    285.42
    229.04
  5. Australia (377.70)
    201.87
    175.83
  6. Switzerland (366.84)
    187.17
    179.66
  7. Italy (348.83)
    195.85
    152.98
  8. Netherlands (325.60)
    188.57
    137.03
  9. Spain (307.22)
    180.66
    126.57
  10. Canada (285.80)
    158.24
    127.57

Collaboration is determined by the combined fractional count (Share) of United Kingdom (UK) and the collaborating country.

Top 10 institutions from United Kingdom (UK)

Institution Count Share
1. University of Oxford 1430 458.90
2. University of Cambridge 1412 451.48
3. Imperial College London (ICL) 946 241.81
4. UCL 897 209.17
5. The University of Edinburgh 650 144.73
6. The University of Manchester (UoM) 562 143.96
7. University of Bristol (UoB) 461 135.94
8. King's College London (KCL) 422 85.63
9. University of Leeds 297 84.56
10. University of Southampton (Soton) 341 78.04

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