United States of America (USA)

1 December 2019 - 30 November 2020

Subject/journal group: All

The table to the right includes counts of all research outputs for United States of America (USA) 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
28986 20575.61

Outputs by subject (FC)

Subject Count Share
Life Sciences 12951 9608.83
113 68.86
Failure to recombine is a common feature of human oogenesis.
2020-11-24
0.79
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
0.09
A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.
2020-11-05
1
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.
2020-11-05
1
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
2020-11-05
1
Analogies in Genomics Policymaking: Debates and Drawbacks.
2020-11-05
1
Analysis of Trans-Ancestral SLE Risk Loci Identifies Unique Biologic Networks and Drug Targets in African and European Ancestries.
2020-11-05
1
Apigenin as a Candidate Prenatal Treatment for Trisomy 21: Effects in Human Amniocytes and the Ts1Cje Mouse Model.
2020-11-05
0.86
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk.
2020-11-05
0.15
Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks.
2020-11-05
1
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
2020-11-05
0.10
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
2020-11-05
0.38
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction.
2020-11-05
0.16
Probabilistic Estimation of Identity by Descent Segment Endpoints and Detection of Recent Selection.
2020-11-05
1
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
2020-11-05
1
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
2020-10-28
0.10
Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?
2020-09-14
0.02
Ovarian Cancer Risk Variants Are Enriched in Histotype-Specific Enhancers and Disrupt Transcription Factor Binding Sites.
2020-09-12
0.76
Bayesian Genome-wide TWAS Method to Leverage both cis- and trans-eQTL Information through Summary Statistics.
2020-09-10
1
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
2020-09-10
0.29
Generalizability of "GWAS Hits" in Clinical Populations: Lessons from Childhood Cancer Survivors.
2020-09-09
0.87
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.
2020-09-08
0.77
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
2020-09-03
0.03
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
2020-09-01
0.35
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
2020-08-31
0.68
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
0.31
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
2020-08-20
0.44
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
2020-08-14
0.22
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
2020-08-14
1
Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance.
2020-08-08
0.83
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
2020-08-06
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
0.09
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
2020-08-06
0.79
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
Detecting Allele-Specific Alternative Splicing from Population-Scale RNA-Seq Data.
2020-08-06
1
Genetic Consequences of the Transatlantic Slave Trade in the Americas.
2020-08-06
0.89
Human iPSC Modeling Reveals Mutation-Specific Responses to Gene Therapy in a Genotypically Diverse Dominant Maculopathy.
2020-08-06
1
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
2020-08-06
0.48
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.
2020-08-03
0.62
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk
2020-07-29
0.63
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
2020-07-29
0.73
Combined Utility of 25 Disease and Risk Factor Polygenic Risk Scores for Stratifying Risk of All-Cause Mortality.
2020-07-26
0.91
Evolution of a Human-Specific Tandem Repeat Associated with ALS.
2020-07-26
0.70
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease
2020-07-23
0.04
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing
2020-07-23
0.60
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
2020-07-20
0.26
A Platelet Function Modulator of Thrombin Activation Is Causally Linked to Cardiovascular Disease and Affects PAR4 Receptor Signaling
2020-07-04
0.46
Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.
2020-07-02
1
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects
2020-07-02
0.63
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios
2020-07-02
0.85
Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics.
2020-07-02
1
The Genetic Landscape and Epidemiology of Phenylketonuria.
2020-07-01
0.10
A Fast and Accurate Method for Genome-Wide Time-to-Event Data Analysis and Its Application to UK Biobank.
2020-06-23
0.83
Regional Variation of Splicing QTLs in Human Brain.
2020-06-22
1
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
0.41
Evidence of Polygenic Adaptation in Sardinia at Height-Associated Loci Ascertained from the Biobank Japan.
2020-06-09
0.33
Population-Specific Recombination Maps from Segments of Identity by Descent.
2020-06-08
1
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
2020-06-05
1
High-Throughput Reclassification of SCN5A Variants.
2020-06-05
1
An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships.
2020-06-04
1
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
2020-06-04
0.44
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
2020-06-04
0.09
Localizing Components of Shared Transethnic Genetic Architecture of Complex Traits from GWAS Summary Data.
2020-06-04
1
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
2020-06-04
0.01
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
2020-06-04
0.57
Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases.
2020-06-04
0.06
Systems Genetics in Human Endothelial Cells Identifies Non-coding Variants Modifying Enhancers, Expression, and Complex Disease Traits.
2020-06-04
0.57
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
2020-06-02
0.90
Natural Selection Shapes Codon Usage in the Human Genome.
2020-06-01
1
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
2020-05-22
0.03
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
2020-05-12
0.13
Accurate and Scalable Construction of Polygenic Scores in Large Biobank Data Sets.
2020-05-07
0.83
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
2020-05-07
0.71
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases.
2020-05-07
1
Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups.
2020-05-07
1
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.
2020-04-29
0.67
Pleiotropy-Based Decomposition of Genetic Risk Scores: Association and Interaction Analysis for Type 2 Diabetes and CAD.
2020-04-14
1
Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases.
2020-04-05
1
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
2020-04-04
0.68
Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data.
2020-04-02
1
Genotyping Array Design and Data Quality Control in the Million Veteran Program.
2020-04-02
1
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
2020-03-31
0.11
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
2020-03-26
0.34
Genetic Architecture of Gene Expression in European and African Americans: An eQTL Mapping Study in GENOA.
2020-03-19
1
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos.
2020-03-19
0.01
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
2020-03-18
0.30
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
2020-03-16
0.84
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
2020-03-13
0.06
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
2020-03-11
0.36
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
2020-03-05
0.08
Population Histories of the United States Revealed through Fine-Scale Migration and Haplotype Analysis.
2020-03-05
0.86
Rapid, Phase-free Detection of Long Identical by Descent Segments Enables Effective Relationship Classification.
2020-03-05
1
A Fast and Simple Method for Detecting Identity by Descent Segments in Large-Scale Data.
2020-03-03
1
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
2020-02-26
0.10
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
2020-02-25
0.26
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
2020-02-25
0.05
Genome-Wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.
2020-02-20
0.03
Enhancer Domains Predict Gene Pathogenicity and Inform Gene Discovery in Complex Disease.
2020-02-06
1
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
2020-01-25
0.20
Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia.
2020-01-23
0.94
Allele-Specific QTL Fine Mapping with PLASMA.
2020-01-22
0.93
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
2020-01-20
0.21
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
2020-01-03
0.57
A Robust Method Uncovers Significant Context-Specific Heritability in Diverse Complex Traits.
2020-01-02
0.83
Bi-Allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
2019-12-19
0.34
Pathogenic Bi-Allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
2019-12-18
0.35
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
0.43
Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts.
2019-12-16
1
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
2019-12-16
0.83
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.
2019-12-13
0.73
UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-based Rare-Variant Test.
2019-12-13
1
Identification of African-Specific Admixture between Modern and Archaic Humans.
2019-12-05
1
92 74.32
263 209.84
286 222.26
98 73.98
93 64.78
102 81.37
1 1
290 206.53
119 97.31
70 44.50
1 0.44
72 61.25
98 69.18
88 68.97
789 660.54
139 109.68
370 282.30
123 83.23
416 350.22
180 140.73
162 112.95
477 328.90
99 78.77
72 51.49
109 84.90
2186 1421.72
92 55.28
1 0.83
78 51.61
153 105.50
74 60.03
108 85.85
81 64.61
213 182.14
156 106.03
284 216.28
1922 1480.98
265 182.56
328 233.82
699 499.53
217 169.33
99 47.48
118 85.79
71 40.81
1084 890.33
Earth & Environmental Sciences 4341 2853.57
Chemistry 7235 5250.77
Physical Sciences 8259 5364.59

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

Hover over the graph to view the percentage of collaboration.

Top 10 collaborators by Share

  • United States of America (USA)
  1. China (4420.77)
    2106.75
    2314.03
  2. 1144.34
    831.17
  3. Germany (1914.97)
    1082.34
    832.63
  4. Canada (1205.80)
    753.10
    452.71
  5. France (1078.91)
    656.65
    422.26
  6. Japan (974.94)
    598.68
    376.26
  7. Australia (712.66)
    427.56
    285.10
  8. Switzerland (698.47)
    414.10
    284.37
  9. South Korea (697.43)
    420.77
    276.66
  10. Italy (582.81)
    354.79
    228.01

Collaboration is determined by the combined fractional count (Share) of United States of America (USA) and the collaborating country.

Top 10 institutions from United States of America (USA)

Institution Count Share
1. Harvard University 2535 914
2. Stanford University 1694 647.18
3. Massachusetts Institute of Technology (MIT) 1828 528.46
4. National Institutes of Health (NIH) 1085 404.29
5. University of California, Berkeley (UC Berkeley) 1297 395.84
6. University of Michigan (U-M) 1010 391.33
7. Yale University 987 350.79
8. University of California, San Diego (UC San Diego) 1003 342.66
9. Columbia University in the City of New York (CU) 1027 327.89
10. University of California, Los Angeles (UCLA) 1114 327.29

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