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Most cited papers from Dr. John T. Macdonald Foundation

What are the most cited papers from Dr. John T. Macdonald Foundation?

The most cited paper from Dr. John T. Macdonald Foundation is "Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease" (European Alzheimer's Disease Initiative (EADI) et al., 2013), with 4,711 citations. Next come "Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing" (3,277) and "Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis" (2,772).

Showing 50 of 60 papers. Every paper with more than 248 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
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

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.