| 1 |
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
European Alzheimer's Disease Initiative (EADI) et al. · Nature Genetics
ReviewOpen access184 authors |
27 Oct 2013 |
4,711 |
| 2 |
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Brian W. Kunkle et al. · Nature Genetics
ReviewOpen access469 authors |
28 Feb 2019 |
3,277 |
| 3 |
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
Stephen J. Sawcer et al. · Nature
Open access241 authors |
Aug 2011 |
2,772 |
| 4 |
New insights into the genetic etiology of Alzheimer’s disease and related dementias
Céline Bellenguez et al. · Nature Genetics
Open access1,266 authors |
Apr 2022 |
2,608 |
| 5 |
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
S Hong Lee et al. · Nature Genetics
Open access370 authors |
11 Aug 2013 |
2,374 |
| 6 |
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease
Adam Christian Naj et al. · Nature Genetics
Open access155 authors |
3 Apr 2011 |
2,024 |
| 7 |
A genomic mutational constraint map using variation in 76,156 human genomes
Siwei Chen et al. · Nature
Open access238 authors |
6 Dec 2023 |
1,453 |
| 8 |
Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease
Valentina Escott‐Price et al. · PLoS ONE
Open access188 authors |
12 Jun 2014 |
1,408 |
| 9 |
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
Rebecca C. Sims et al. · Nature Genetics
Open access450 authors |
17 Jul 2017 |
1,122 |
| 10 |
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Dalila Pinto et al. · The American Journal of Human Genetics
Open access112 authors |
24 Apr 2014 |
1,037 |
| 11 |
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease
Taye H. Hamza, Cyrus P. Zabetian, Albert Tenesa et al. · Nature Genetics
Open access |
15 Aug 2010 |
820 |
| 12 |
Seven new loci associated with age-related macular degeneration
Lars G. Fritsche et al. · Nature Genetics
Open access156 authors |
3 Mar 2013 |
812 |
| 13 |
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
Colm T. O'Dushlaine et al. · Nature Neuroscience
Open access375 authors |
19 Jan 2015 |
807 |
| 14 |
dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway
Jeannette M. Osterloh et al. · Science
Open access |
7 Jun 2012 |
732 |
| 15 |
TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics
Ian R. Mackenzie et al. · Neuron
Open access |
Aug 2017 |
676 |
| 16 |
Breaking down the barriers: siRNA delivery and endosome escape
Monika Domińska, Derek M. Dykxhoorn · Journal of Cell Science
|
31 Mar 2010 |
636 |
| 17 |
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Andrea Cortese et al. · Nature Genetics
Open access |
29 Mar 2019 |
603 |
| 18 |
miR-24 Inhibits Cell Proliferation by Targeting E2F2, MYC, and Other Cell-Cycle Genes via Binding to “Seedless” 3′UTR MicroRNA Recognition Elements
Ashish Lal, Francisco Navarro, Christopher A. Maher et al. · Molecular Cell
Open access |
Sep 2009 |
593 |
| 19 |
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism
Simon G. Gregory, Jessica J. Connelly, Aaron J. Towers et al. · BMC Medicine
Open access |
22 Oct 2009 |
581 |
| 20 |
The promise of whole-exome sequencing in medical genetics
Bahareh Rabbani, Mustafa Tekin, Nejat Mahdieh · Journal of Human Genetics
|
7 Nov 2013 |
548 |
| 21 |
Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database
Christina M. Lill et al. · PLoS Genetics
Open access |
15 Mar 2012 |
544 |
| 22 |
Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study
Eric M. Reiman et al. · Nature Communications
Open access192 authors |
3 Feb 2020 |
513 |
| 23 |
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Anthony Philippakis et al. · Human Mutation
Open access |
13 Aug 2015 |
500 |
| 24 |
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
Xueya Zhou et al. · Nature Genetics
Open access422 authors |
18 Aug 2022 |
490 |
| 25 |
A statistical framework for cross-tissue transcriptome-wide association analysis
Yiming Hu, Mo Li, Qiongshi Lu et al. · Nature Genetics
Open access |
25 Feb 2019 |
481 |
| 26 |
A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease
The International Genomics of Alzheimer's Project et al. · Nature Neuroscience
Open access |
19 Jun 2017 |
480 |
| 27 |
Genome‐Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease
Todd L. Edwards, William K. Scott, Cherylyn Almonte et al. · Annals of Human Genetics
Open access |
13 Jan 2010 |
470 |
| 28 |
Ascorbate Induces Ten-Eleven Translocation (Tet) Methylcytosine Dioxygenase-mediated Generation of 5-Hydroxymethylcytosine
Emily A. Minor, Brenda L. Court, Juan I. Young et al. · Journal of Biological Chemistry
Open access |
3 Apr 2013 |
426 |
| 29 |
Piezoelectric energy harvesting: State-of-the-art and challenges
Alperen Toprak, Onur Tigli · Applied Physics Reviews
|
Sep 2014 |
422 |
| 30 |
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease
Ken Y. Hui et al. · Science Translational Medicine
Open access |
10 Jan 2018 |
419 |
| 31 |
Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score
Rahul S. Desikan et al. · PLoS Medicine
Open access |
21 Mar 2017 |
416 |
| 32 |
GWAS of Cerebrospinal Fluid Tau Levels Identifies Risk Variants for Alzheimer’s Disease
Carlos Cruchaga et al. · Neuron
Open access |
Apr 2013 |
407 |
| 33 |
The gut metabolite indole-3 propionate promotes nerve regeneration and repair
Elisabeth Serger, Lucia Luengo-Gutierrez, Jessica Chadwick et al. · Nature
|
22 Jun 2022 |
384 |
| 34 |
Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias
Gary W. Beecham et al. · PLoS Genetics
ReviewOpen access |
4 Sep 2014 |
379 |
| 35 |
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis
David Clement Whitcomb et al. · Nature Genetics
Open access |
11 Nov 2012 |
361 |
| 36 |
Deregulated immune cell recruitment orchestrated by FOXM1 impairs human diabetic wound healing
Andrew Phillip Sawaya, Rivka C. Stone, Stephen R. Brooks et al. · Nature Communications
Open access |
16 Sep 2020 |
354 |
| 37 |
Sex-Specific Association of Apolipoprotein E With Cerebrospinal Fluid Levels of Tau
Timothy J. Hohman et al. · JAMA Neurology
Open access |
7 May 2018 |
354 |
| 38 |
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
Itziar de Rojas et al. · Nature Communications
Open access572 authors |
7 Jun 2021 |
350 |
| 39 |
Novel genetic loci associated with hippocampal volume
Derrek P. Hibar et al. · Nature Communications
Open access334 authors |
18 Jan 2017 |
335 |
| 40 |
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders
Holly N. Cukier, Nicole Dueker, Susan H. Slifer et al. · Molecular Autism
Open access |
10 Jan 2014 |
332 |
| 41 |
miR-200 Enhances Mouse Breast Cancer Cell Colonization to Form Distant Metastases
Derek M. Dykxhoorn, Yichao Wu, Huangming Xie et al. · PLoS ONE
Open access |
28 Sep 2009 |
324 |
| 42 |
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
Rebecca Schüle et al. · Annals of Neurology
|
9 Feb 2016 |
323 |
| 43 |
Regulation of the Epigenome by Vitamin C
Juan I. Young, Stephan Züchner, Gaofeng Wang · Annual Review of Nutrition
ReviewOpen access |
14 May 2015 |
319 |
| 44 |
A novel Alzheimer disease locus located near the gene encoding tau protein
Gyungah Jun et al. · Molecular Psychiatry
Open access429 authors |
17 Mar 2015 |
315 |
| 45 |
APOE Genotype and Alzheimer Disease Risk Across Age, Sex, and Population Ancestry
Michaël E. Belloy, Shea J. Andrews, Yann Le Guen et al. · JAMA Neurology
Open access |
6 Nov 2023 |
313 |
| 46 |
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Pamela Feliciano et al. · npj Genomic Medicine
Open access224 authors |
23 Aug 2019 |
285 |
| 47 |
Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel
Brian W. Kunkle et al. · JAMA Neurology
Open access206 authors |
19 Oct 2020 |
284 |
| 48 |
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
EuroEPINOMICS RES et al. · Nature Genetics
Open access |
9 Mar 2015 |
278 |
| 49 |
Mitochondrial copper metabolism and delivery to cytochrome c oxidase
Darryl M. Horn, Antoni Barrientos · IUBMB Life
Open access |
5 May 2008 |
276 |
| 50 |
Targeted and controlled anticancer drug delivery and release with magnetoelectric nanoparticles
Alexandra Rodzinski, Rakesh Guduru, Ping Liang et al. · Scientific Reports
Open access |
15 Feb 2016 |
272 |