Outputs for Canada

1 May 2020 - 1 April 2021

Subject/journal group: All

Count Share
3562 1594.65

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

Journal Count Share
ACS Nano 47 21.81
Advanced Functional Materials 43 23.25
Advanced Materials 37 14.28
American Journal of Human Genetics 27 5.36
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
2021-04-27
0.04
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
2021-04-27
0.50
Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm
2021-03-23
0.08
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome
2021-03-19
0.20
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
2021-03-04
0.10
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
2021-01-07
0.46
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
2020-12-16
0.32
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
2020-12-03
0.03
Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study
2020-12-03
0.04
Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability
2020-12-03
1
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans
2020-12-03
0.11
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
0.13
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk.
2020-11-05
0.03
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction.
2020-11-05
0.04
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
2020-11-05
0.03
Lessons Learned from Bugs in Models of Human History.
2020-10-01
0.75
Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?
2020-09-14
0.06
Generalizability of "GWAS Hits" in Clinical Populations: Lessons from Childhood Cancer Survivors.
2020-09-09
0.13
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
2020-08-31
0.06
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
2020-08-14
0.56
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
2020-08-06
0.07
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
2020-08-06
0.17
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
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk
2020-07-29
0.05
Evolution of a Human-Specific Tandem Repeat Associated with ALS.
2020-07-26
0.30
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
0.01
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
2020-06-04
0.02
Analytical Chemistry 78 52.87
Angewandte Chemie International Edition 93 45.13
Applied Physics Letters 25 15.39
Astronomy & Astrophysics 11 1.73
Cancer Cell 6 2.19
Cancer Research 24 9
Cell 35 10.22
Cell Host & Microbe 9 4.90
Cell Metabolism 10 3.54
Cell Stem Cell 10 7.56
Chemical Communications 51 31.25
Chemical Science 46 32.30
Current Biology 36 15
Developmental Cell 9 3.47
Earth and Planetary Science Letters 41 15.17
Ecology Letters 13 4.19
Environmental Science and Technology 118 65.03
European Physical Journal C 51 16.53
Genes & Development 5 2.26
Genome Research 11 5.39
Geochimica et Cosmochimica Acta 45 17.53
Geology 37 13.27
Geophysical Research Letters 120 45.11
Immunity 11 2.37
Inorganic Chemistry 54 33.72
Journal of Biological Chemistry 79 53.78
Journal of Cell Biology 11 7.71
Journal of Clinical Investigation 27 9.84
Journal of Experimental Medicine 14 7.20
Journal of Geophysical Research: Atmospheres 36 16.79
Journal of Geophysical Research: Solid Earth 45 24.75
Journal of High Energy Physics 165 84.20
Journal of Neuroscience 55 37.81
Journal of the American Chemical Society 73 44.80
Macromolecules 49 37.12
Molecular Cell 21 9.43
Molecular Psychiatry 38 9.35
Monthly Notices of the Royal Astronomical Society: Letters 8 4.19
Nano Letters 25 14.83
Nature 100 25.78
Nature Biotechnology 8 1.74
Nature Cell Biology 4 0.89
Nature Chemical Biology 8 1.90
Nature Chemistry 8 4.92
Nature Climate Change 17 7.09
Nature Communications 415 164.73
Nature Genetics 17 2.31
Nature Geoscience 13 5.69
Nature Immunology 9 1.20
Nature Materials 11 4.16
Nature Medicine 17 4.76
Nature Methods 12 4.20
Nature Nanotechnology 4 1.24
Nature Neuroscience 9 4.80
Nature Photonics 3 2.40
Nature Physics 9 3.16
Nature Structural & Molecular Biology 2 0.37
Neuron 6 1.40
Organic Letters 32 26.42
PLOS Biology 18 8.04
PLOS Genetics 34 21.19
Physical Review A 15 6.70
Physical Review B 29 14.49
Physical Review D 16 5.27
Physical Review Letters 153 54.08
Physical Review X 8 3.75
Proceedings of the National Academy of Sciences of the United States of America 244 81.53
Proceedings of the Royal Society B 85 43.53
Science 58 16.72
Science Advances 120 39.05
Science Translational Medicine 23 10.02
The Astrophysical Journal Letters 60 11.39
The EMBO Journal 11 2.65
The ISME Journal: Multidisciplinary Journal of Microbial Ecology 22 10.24
The Journal of Physical Chemistry Letters 31 19.25
The Plant Cell 7 4.12
Water Research 61 38.82
eLife 114 53.02

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