Outputs for United States of America (USA)

1 September 2018 - 31 August 2019

Subject/journal group: All

Count Share
28202 20080.81

The research outputs below are grouped by journal. Click on the journal to view the list of articles.

Journal Count Share
ACS Nano 521 358.58
Advanced Functional Materials 382 221.31
Advanced Materials 376 215.63
American Journal of Human Genetics 147 85.12
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
2019-08-28
0.16
Redefining the Etiologic Landscape of Cerebellar Malformations.
2019-08-28
0.87
Distinct HLA Associations with Rheumatoid Arthritis Subsets Defined by Serological Subphenotype.
2019-08-26
0.11
cis Elements that Mediate RNA Polymerase II Pausing Regulate Human Gene Expression.
2019-08-26
1
Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma.
2019-08-21
1
Using Transcriptomic Hidden Variables to Infer Context-Specific Genotype Effects in the Brain.
2019-08-21
0.55
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
2019-08-16
0.25
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.
2019-08-13
0.77
Pathogenic Abnormal Splicing due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.
2019-08-09
0.13
Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting.
2019-08-08
1
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
2019-08-07
0.03
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
2019-08-05
0.53
Extreme Polygenicity of Complex Traits Is Explained by Negative Selection
2019-07-29
1
Identifying Putative Susceptibility Genes and Evaluating Their Associations with Somatic Mutations in Human Cancers
2019-07-26
0.83
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
2019-07-23
0.26
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
2019-07-20
0.21
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
2019-07-19
0.63
Phenome-wide Burden of Copy Number Variation in the UK Biobank.
2019-07-18
1
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
2019-07-11
0.86
Family Clustering of Autoimmune Vitiligo Results Principally from Polygenic Inheritance of Common Risk Alleles.
2019-07-10
1
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
2019-07-10
0.36
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome
2019-07-09
1
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
2019-07-02
0.31
Comparing Within- and Between-Family Polygenic Score Prediction.
2019-06-28
0.25
Inference of Population Structure from Time-Series Genotype Data
2019-06-26
1
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
2019-06-26
0.57
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
2019-06-25
0.09
Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project
2019-06-24
1
Public Discussion Affects Question Asking at Academic Conferences.
2019-06-19
1
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
2019-06-18
0.35
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
2019-06-12
0.24
TIGAR: An Improved Bayesian Tool for Transcriptomic Data Imputation Enhances Gene Mapping of Complex Traits.
2019-06-10
1
Third-Party Genetic Interpretation Tools: A Mixed-Methods Study of Consumer Motivation and Behavior.
2019-06-07
1
Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver.
2019-06-05
1
NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice.
2019-06-04
0.30
Genes for Good: Engaging the Public in Genetics Research via Social Media.
2019-06-01
0.98
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
2019-05-31
0.59
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
2019-05-29
1
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
2019-05-28
0.22
Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology.
2019-05-27
0.43
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
2019-05-27
0.14
Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland.
2019-05-21
0.25
Estimating the Effectiveness of DPYD Genotyping in Italian Individuals Suffering from Cancer Based on the Cost of Chemotherapy-Induced Toxicity.
2019-05-18
0.10
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
2019-05-17
0.27
On Using Local Ancestry to Characterize the Genetic Architecture of Human Traits: Genetic Regulation of Gene Expression in Multiethnic or Admixed Populations.
2019-05-16
0.89
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
2019-05-13
0.15
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.
2019-05-13
0.24
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
2019-05-09
0.34
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease
2019-05-08
0.11
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.
2019-05-07
0.96
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
2019-05-02
0.43
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity
2019-05-02
1
Genes with High Network Connectivity Are Enriched for Disease Heritability.
2019-05-02
1
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
2019-05-02
0.07
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
2019-04-28
0.33
Benchmarker: An Unbiased, Association-Data-Driven Strategy to Evaluate Gene Prioritization Algorithms.
2019-04-24
0.78
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.
2019-04-24
0.15
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
2019-04-22
0.25
Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.
2019-04-13
0.87
Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer.
2019-04-11
1
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
2019-04-11
0.15
Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies.
2019-04-11
1
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
2019-04-10
0.26
IMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors
2019-04-06
0.80
CCR4-NOT transcription complex, subunit 1 (CNOT1) Variant Associated with Holoprosencephaly.
2019-04-05
1
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
2019-04-05
0.20
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
2019-04-04
0.11
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
2019-04-04
0.21
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
2019-04-04
0.23
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
2019-04-04
0.21
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
2019-04-04
0.50
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
2019-04-04
0.19
Disease Heritability Enrichment of Regulatory Elements Is Concentrated in Elements with Ancient Sequence Age and Conserved Function across Species.
2019-04-04
1
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
2019-04-04
1
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
2019-04-04
0.18
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
2019-04-04
0.12
Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas
2019-04-04
0.14
Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates.
2019-04-04
1
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
2019-04-04
0.30
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
2019-04-02
0.34
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
2019-03-29
0.36
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia
2019-03-29
0.61
ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies.
2019-03-07
1
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
2019-03-07
0.66
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
2019-03-07
0.43
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
2019-03-07
0.30
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
2019-02-28
0.49
GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish.
2019-02-27
0.98
Discovery of Allele-Specific Protein-RNA Interactions in Human Transcriptomes.
2019-02-25
1
Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.
2019-02-22
1
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
2019-02-20
0.11
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
2019-02-07
0.38
Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness.
2019-02-07
1
Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance.
2019-02-07
1
Optimal Integration of Behavioral Medicine into Clinical Genetics and Genomics.
2019-02-07
1
Practical and Ethical Considerations of Using Personal DNA Tests with Middle-School-Aged Learners.
2019-02-07
1
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
2019-02-07
0.42
Genome-wide Significance Thresholds for Admixture Mapping Studies.
2019-02-04
1
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.
2019-01-18
0.74
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
2019-01-11
0.91
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
2019-01-03
0.40
Integrating Genomics into Healthcare: A Global Responsibility.
2019-01-03
0.20
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
2019-01-03
1
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
2019-01-03
0.85
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
2019-01-03
0.62
Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the TBX-FGF Pathway.
2019-01-02
0.41
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
2018-12-31
0.44
Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies.
2018-12-31
0.98
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
2018-12-26
0.45
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A (PPP2CA) Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
2018-12-21
0.27
GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology.
2018-12-21
0.17
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
2018-12-14
1
Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals.
2018-12-13
1
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
2018-12-06
0.56
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
2018-12-06
0.55
Inferring Transmission Histories of Rare Alleles in Population-Scale Genealogies.
2018-12-06
0.03
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
2018-12-06
1
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
2018-12-06
0.08
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
2018-12-04
0.98
Parkinson-Associated SNCA Enhancer Variants Revealed by Open Chromatin in Mouse Dopamine Neurons.
2018-11-29
1
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
2018-11-23
0.35
The Genetic Landscape of Diamond-Blackfan Anemia.
2018-11-21
0.83
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance
2018-11-19
0.57
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
2018-11-19
0.15
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
2018-11-08
0.29
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
2018-11-05
0.94
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
2018-11-01
0.08
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
2018-11-01
0.83
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
2018-11-01
0.02
Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.
2018-11-01
0.20
FUT2 Variants Confer Susceptibility to Familial Otitis Media.
2018-11-01
0.63
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
2018-11-01
0.23
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
2018-11-01
0.31
Understanding the Hidden Complexity of Latin American Population Isolates.
2018-11-01
0.82
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
2018-10-04
0.70
An Ancient Fecundability-Associated Polymorphism Creates a GATA2 Binding Site in a Distal Enhancer of HLA-F
2018-10-04
1
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
2018-10-04
0.10
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
2018-10-04
0.21
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
2018-10-04
0.58
Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits.
2018-10-04
0.92
Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data
2018-09-21
1
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
2018-09-13
1
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
2018-09-06
1
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
2018-09-06
0.17
Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.
2018-09-06
1
Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.
2018-09-06
0.71
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.
2018-09-06
1
Analytical Chemistry 610 479.23
Angewandte Chemie International Edition 619 434.45
Applied Physics Letters 586 436.90
Astronomy & Astrophysics 37 8.63
Cancer Cell 101 73.25
Cancer Research 301 234.29
Cell 368 295.38
Cell Host & Microbe 117 96.04
Cell Metabolism 108 79.88
Cell Stem Cell 94 70.55
Chemical Communications 426 309.52
Chemical Science 295 208.50
Current Biology 225 163.56
Developmental Cell 117 91.73
Earth and Planetary Science Letters 263 166.55
Ecology Letters 98 61.55
Environmental Science and Technology 664 471.71
European Physical Journal C 145 41.87
Genes & Development 63 52.80
Genome Research 111 81.10
Geochimica et Cosmochimica Acta 281 182.28
Geology 126 86.16
Geophysical Research Letters 980 714.28
Immunity 129 102.91
Inorganic Chemistry 383 288.12
Journal of Biological Chemistry 853 712.06
Journal of Cell Biology 138 116.15
Journal of Clinical Investigation 190 149.28
Journal of Experimental Medicine 119 81.49
Journal of Geophysical Research: Atmospheres 453 320.81
Journal of Geophysical Research: Solid Earth 317 222.77
Journal of High Energy Physics 724 448.77
Journal of Neuroscience 428 355.59
Journal of the American Chemical Society 1288 1046.99
Macromolecules 345 276.50
Molecular Cell 267 213.29
Molecular Psychiatry 99 70
Monthly Notices of the Royal Astronomical Society: Letters 84 35.31
Nano Letters 489 340.71
Nature 625 411.81
Nature Biotechnology 74 58.45
Nature Cell Biology 64 44.69
Nature Chemical Biology 82 62.28
Nature Chemistry 52 39.20
Nature Climate Change 63 39.12
Nature Communications 2788 1731.12
Nature Genetics 118 64.50
Nature Geoscience 95 56.74
Nature Immunology 92 69.62
Nature Materials 88 57.92
Nature Medicine 138 99.34
Nature Methods 102 82.24
Nature Nanotechnology 73 50.38
Nature Neuroscience 131 102.75
Nature Photonics 48 37.61
Nature Physics 100 55.07
Nature Structural & Molecular Biology 55 47.90
Neuron 277 240.24
Organic Letters 308 247.68
PLOS Biology 239 171.56
PLOS Genetics 318 237.37
Physical Review A 58 42.84
Physical Review B 341 231.40
Physical Review D 80 42.02
Physical Review Letters 1143 727.96
Physical Review X 143 99.92
Proceedings of the National Academy of Sciences of the United States of America 2364 1813.31
Proceedings of the Royal Society B 255 176.58
Science 471 347.97
Science Advances 647 423.67
Science Translational Medicine 194 147.08
The Astrophysical Journal Letters 411 267.76
The EMBO Journal 67 36.80
The ISME Journal: Multidisciplinary Journal of Microbial Ecology 113 68.62
The Journal of Physical Chemistry Letters 327 234.53
The Plant Cell 79 50.62
Water Research 217 128.32
eLife 895 732.18

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