Outputs for France

1 October 2019 - 30 September 2020

Subject/journal group: All

Count Share
5107 2276.88

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

Journal Count Share
ACS Nano 64 32.81
Advanced Functional Materials 37 17.78
Advanced Materials 27 8.57
American Journal of Human Genetics 40 9.13
Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?
2020-09-14
0.02
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
2020-08-31
0.01
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
2020-08-06
0.02
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
0.09
High Levels of Genetic Diversity within Nilo-Saharan Populations: Implications for Human Adaptation.
2020-08-06
0.06
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
2020-08-06
0.16
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk
2020-07-29
0.03
A Platelet Function Modulator of Thrombin Activation Is Causally Linked to Cardiovascular Disease and Affects PAR4 Receptor Signaling
2020-07-04
0.15
The Genetic Landscape and Epidemiology of Phenylketonuria.
2020-07-01
0.04
Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility.
2020-06-24
0.34
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
0.15
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
2020-06-04
0.28
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
2020-06-04
0.70
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
2020-06-04
0.36
A Genetic History of the Near East from an aDNA Time Course Sampling Eight Points in the Past 4,000 Years.
2020-05-25
0.08
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
2020-05-12
0.56
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts.
2020-05-07
0.07
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
2020-03-26
0.11
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
2020-03-16
0.03
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
0.64
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
2020-03-05
0.05
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
2020-02-26
0.46
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
2020-02-25
0.52
Genome-Wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.
2020-02-20
0.05
Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia.
2020-01-23
0.03
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
2020-01-22
1
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
2020-01-17
0.07
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
2020-01-03
0.13
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
2019-12-23
0.06
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
2019-12-23
0.15
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
0.02
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.
2019-12-12
0.04
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
2019-11-25
0.16
Making the Most of Clumping and Thresholding for Polygenic Scores.
2019-11-15
0.63
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
2019-11-12
0.06
Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.
2019-11-05
0.78
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
2019-10-21
0.05
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
2019-10-14
0.76
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
2019-10-03
0.16
Distinct HLA Associations with Rheumatoid Arthritis Subsets Defined by Serological Subphenotype.
2019-10-03
0.05
Analytical Chemistry 84 51.99
Angewandte Chemie International Edition 167 92.11
Applied Physics Letters 108 60.49
Cancer Cell 5 2.38
Cancer Research 29 15.66
Cell 34 7.61
Cell Host & Microbe 10 3.97
Cell Metabolism 15 6.23
Cell Stem Cell 3 0.99
Chemical Communications 146 97.66
Chemical Science 67 35.22
Current Biology 65 34.20
Developmental Cell 21 7.01
Earth and Planetary Science Letters 82 34.67
Ecology Letters 18 8.53
Environmental Science and Technology 53 26.39
European Physical Journal C 109 24.82
Genes & Development 5 0.96
Genome Research 12 5.71
Geochimica et Cosmochimica Acta 76 36.71
Geology 24 10.44
Geophysical Research Letters 169 69.68
Immunity 14 3.82
Inorganic Chemistry 149 86.78
Journal of Biological Chemistry 54 30.19
Journal of Cell Biology 20 12.71
Journal of Clinical Investigation 29 12.40
Journal of Experimental Medicine 12 5.45
Journal of Geophysical Research: Atmospheres 50 17.92
Journal of Geophysical Research: Solid Earth 84 38.22
Journal of High Energy Physics 238 79.86
Journal of Neuroscience 27 14.21
Journal of the American Chemical Society 126 55.18
Macromolecules 88 49.87
Molecular Cell 20 8.27
Molecular Psychiatry 27 7.27
Monthly Notices of the Royal Astronomical Society: Letters 23 8.37
Nano Letters 68 34.29
Nature 123 25.07
Nature Biotechnology 9 2.81
Nature Cell Biology 18 8.09
Nature Chemical Biology 8 3.57
Nature Chemistry 5 2.27
Nature Climate Change 9 1.35
Nature Communications 534 221.85
Nature Genetics 13 0.72
Nature Geoscience 25 8.74
Nature Immunology 11 3.60
Nature Materials 14 4.46
Nature Medicine 22 4.79
Nature Methods 10 3.30
Nature Nanotechnology 11 3.85
Nature Neuroscience 8 2.97
Nature Photonics 13 5.17
Nature Physics 37 15.61
Nature Structural & Molecular Biology 8 2.99
Neuron 24 8.41
Organic Letters 72 58.21
PLOS Biology 32 13.85
PLOS Genetics 42 20.53
Physical Review A 15 5.31
Physical Review B 76 34.28
Physical Review D 23 8.48
Physical Review Letters 402 185.74
Physical Review X 43 25.11
Proceedings of the National Academy of Sciences of the United States of America 247 104.97
Proceedings of the Royal Society B 53 25.21
Science 88 29.11
Science Advances 165 65.93
Science Translational Medicine 20 10.18
The Astrophysical Journal Letters 90 21.01
The EMBO Journal 28 14.32
The ISME Journal: Multidisciplinary Journal of Microbial Ecology 21 10.76
The Journal of Physical Chemistry Letters 93 49.80
The Plant Cell 18 10.22
Water Research 29 18.22
eLife 149 69.49

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