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Medical Genetics Section
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top-articles
Medical Genetics Section
113
(top 1%)
papers
9.1K
(top 1%)
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47
(top 1%)
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95
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116
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9.8K
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1.9K
citing journals
Top Articles
#
Title
Journal
Year
Citations
1
The DNA sequence of the human X chromosome
Nature
2005
985
2
Genome-wide association studies establish that human intelligence is highly heritable and polygenic
Molecular Psychiatry
2011
571
3
The DISC locus in psychiatric illness
Molecular Psychiatry
2008
554
4
Genome-wide association study identifies five loci associated with lung function
Nature Genetics
2010
518
5
New gene functions in megakaryopoiesis and platelet formation
Nature
2011
401
6
Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949)
Molecular Psychiatry
2015
344
7
Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation
Nature Genetics
2015
294
8
Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder
JAMA Psychiatry
2015
289
9
Identification of polymorphic and off-target probe binding sites on the Illumina Infinium MethylationEPIC BeadChip
Genomics Data
2016
264
10
Genetic contributions to stability and change in intelligence from childhood to old age
Nature
2012
228
11
Airways in cystic fibrosis are acidified: detection by exhaled breath condensate
Thorax
2002
208
12
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
Human Molecular Genetics
2006
202
13
Genomic structure and localisation within a linkage hotspot of Disrupted In Schizophrenia 1, a gene disrupted by a translocation segregating with schizophrenia
Molecular Psychiatry
2001
184
14
Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium
Behavior Genetics
2016
178
15
Association between the TRAX/DISC locus and both bipolar disorder and schizophrenia in the Scottish population
Molecular Psychiatry
2005
165
16
Common SNPs explain some of the variation in the personality dimensions of neuroticism and extraversion
Translational Psychiatry
2012
156
17
Yeast two-hybrid screens implicate DISC1 in brain development and function
Biochemical and Biophysical Research Communications
2003
153
18
Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum
American Journal of Human Genetics
2007
144
19
The translation elongation factor eEF1A1 couples transcription to translation during heat shock response
ELife
2014
140
20
Disrupted in Schizophrenia 1 (DISC1) is a multicompartmentalized protein that predominantly localizes to mitochondria
Molecular and Cellular Neurosciences
2004
137
21
Characterization and comparative analysis of the EGLN gene family
Gene
2001
130
22
Molecular pharmacology of the CFTR Cl− channel
Trends in Pharmacological Sciences
1999
123
23
Identification of polymorphisms within Disrupted in Schizophrenia 1 and Disrupted in Schizophrenia 2, and an investigation of their association with schizophrenia and bipolar affective disorder
Psychiatric Genetics
2001
116
24
SNP genotyping on pooled DNAs: comparison of genotyping technologies and a semi automated method for data storage and analysis
Nucleic Acids Research
2002
114
25
Role of DISC1 in neural development and schizophrenia
Current Opinion in Neurobiology
2007
113
26
Association of Neuregulin 1 with schizophrenia and bipolar disorder in a second cohort from the Scottish population
Molecular Psychiatry
2007
112
27
DISC1: Structure, Function, and Therapeutic Potential for Major Mental Illness
ACS Chemical Neuroscience
2011
109
28
Mammalian homologues of the Drosophila eye specification genes
Seminars in Cell and Developmental Biology
2001
105
29
Association between genotype at an exonic SNP in DISC1 and normal cognitive aging
Neuroscience Letters
2005
99
30
Sex-specific association between bipolar affective disorder in women and GPR50, an X-linked orphan G protein-coupled receptor
Molecular Psychiatry
2005
98
31
The Unexpected Roles of Eukaryotic Translation Elongation Factors in RNA Virus Replication and Pathogenesis
Microbiology and Molecular Biology Reviews
2013
98
32
Pre-clinical evaluation of three non-viral gene transfer agents for cystic fibrosis after aerosol delivery to the ovine lung
Gene Therapy
2011
93
33
Disrupted In Schizophrenia 1 (DISC1): Subcellular targeting and induction of ring mitochondria
Molecular and Cellular Neurosciences
2005
92
34
The genomic organisation of the metabotropic glutamate receptor subtype 5 gene, and its association with schizophrenia
Molecular Psychiatry
2001
87
35
Impact of a microRNA MIR137 Susceptibility Variant on Brain Function in People at High Genetic Risk of Schizophrenia or Bipolar Disorder
Neuropsychopharmacology
2012
79
36
A primary culture model of differentiated murine tracheal epithelium
American Journal of Physiology - Lung Cellular and Molecular Physiology
2000
75
37
PKA Phosphorylation of NDE1 Is DISC1/PDE4 Dependent and Modulates Its Interaction with LIS1 and NDEL1
Journal of Neuroscience
2011
72
38
Two mechanisms of genistein inhibition of cystic fibrosis transmembrane conductance regulator Cl − channels expressed in murine cell line
Journal of Physiology
2000
69
39
Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium
Biological Psychiatry
2015
67
40
PAX6 and Congenital Eye Malformations
Pediatric Research
2003
60
41
Structural Models of Human eEF1A1 and eEF1A2 Reveal Two Distinct Surface Clusters of Sequence Variation and Potential Differences in Phosphorylation
PLoS ONE
2009
60
42
Eef1a2 Promotes Cell Growth, Inhibits Apoptosis and Activates JAK/STAT and AKT Signaling in Mouse Plasmacytomas
PLoS ONE
2010
59
43
Differential global gene expression in cystic fibrosis nasal and bronchial epithelium
Genomics
2011
59
44
708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits
Molecular Psychiatry
2014
59
45
Optimizing Aerosol Gene Delivery and Expression in the Ovine Lung
Molecular Therapy
2007
54
46
Non-viral vectors in cystic fibrosis gene therapy: progress and challenges
Trends in Biotechnology
2004
52
47
Genetic causality in schizophrenia and bipolar disorder: out with the old and in with the new
Current Opinion in Genetics and Development
2008
50
48
Eukaryotic elongation factor 1 complex subunits are critical HIV-1 reverse transcription cofactors
Proceedings of the National Academy of Sciences of the United States of America
2012
49
49
Regulation of Adenovirus-Mediated Elafin Transgene Expression by Bacterial Lipopolysaccharide
Human Gene Therapy
2001
46
50
GPR50 interacts with neuronal NOGO-A and affects neurite outgrowth
Molecular and Cellular Neurosciences
2009
46
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