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1. Full Text Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
by Sims, Rebecca and Van Der Lee, Sven J and Naj, Adam C and Bellenguez, Céline and Badarinarayan, Nandini and Jakobsdottir, Johanna and Kunkle, Brian W and Boland, Anne and Raybould, Rachel and Bis, Joshua C and Martin, Eden R and Grenier-Boley, Benjamin and Heilmann-Heimbach, Stefanie and Chouraki, Vincent and Kuzma, Amanda B and Sleegers, Kristel and Vronskaya, Maria and Ruiz, Agustin and Graham, Robert R and Olaso, Robert and Hoffmann, Per and Grove, Megan L and Vardarajan, Badri N and Hiltunen, Mikko and Nöthen, Markus M and White, Charles C and Hamilton-Nelson, Kara L and Epelbaum, Jacques and Maier, Wolfgang and Choi, Seung-Hoan and Beecham, Gary W and Dulary, Cécile and Herms, Stefan and Smith, Albert V and Funk, Cory C and Derbois, Céline and Forstner, Andreas J and Ahmad, Shahzad and Li, Hongdong and Bacq, Delphine and Harold, Denise and Satizabal, Claudia L and Valladares, Otto and Squassina, Alessio and Thomas, Rhodri and Brody, Jennifer A and Qu, Liming and Sánchez-Juan, Pascual and Morgan, Taniesha and Wolters, Frank J and Zhao, Yi and Garcia, Florentino Sanchez and Denning, Nicola and Fornage, Myriam and Malamon, John and Naranjo, Maria Candida Deniz and Majounie, Elisa and Mosley, Thomas H and Dombroski, Beth and Wallon, David and Lupton, Michelle K and Dupuis, Josée and Whitehead, Patrice and Fratiglioni, Laura and Medway, Christopher and Jian, Xueqiu and Mukherjee, Shubhabrata and Keller, Lina and Brown, Kristelle and Lin, Honghuang and Cantwell, Laura B and Panza, Francesco and McGuinness, Bernadette and Moreno-Grau, Sonia and Burgess, Jeremy D and Solfrizzi, Vincenzo and Proitsi, Petra and Adams, Hieab H and Allen, Mariet and Seripa, Davide and Pastor, Pau and Cupples, L Adrienne and Price, Nathan D and Hannequin, Didier and Frank-García, Ana and Levy, Daniel and Chakrabarty, Paramita and Caffarra, Paolo and Giegling, Ina and Beiser, Alexa S and Giedraitis, Vilmantas and Hampel, Harald and Garcia, Melissa E and Wang, Xue and Lannfelt, Lars and Mecocci, Patrizia and Eiriksdottir, Gudny and Crane, Paul K and Pasquier, Florence and Boccardi, Virginia and ... and EADI and GERAD PERADES and ARUKConsortium and CHARGE and ADGC and GERAD/PERADES, CHARGE, ADGC, EADI and ARUK Consortium and Stockholms universitet and Centrum för forskning om äldre och åldrande (ARC), (tills m KI) and Samhällsvetenskapliga fakulteten
Nature Genetics, ISSN 1061-4036, 09/2017, Volume 49, Issue 9, pp. 1373 - 1384
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174... 
COMMON VARIANTS | IDENTIFIES VARIANTS | METAANALYSIS | GENOTYPE IMPUTATION | LOW-FREQUENCY | SUSCEPTIBILITY | GENETICS & HEREDITY | RISK | LOCI | WAVE2 COMPLEX | GENOME-WIDE ASSOCIATION | Amino Acid Sequence | Microglia - metabolism | Genetic Predisposition to Disease - genetics | Gene Frequency | Humans | Immunity, Innate - genetics | Genotype | Gene Expression Profiling | Case-Control Studies | Linkage Disequilibrium | Membrane Glycoproteins - genetics | Sequence Homology, Amino Acid | Exome - genetics | Protein Interaction Maps - genetics | Adaptor Proteins, Signal Transducing - genetics | Phospholipase C gamma - genetics | Polymorphism, Single Nucleotide | Alzheimer Disease - genetics | Odds Ratio | Receptors, Immunologic - genetics | Immune response | Genetic variation | Physiological aspects | Development and progression | Genetic aspects | Research | Alzheimer's disease | Neurodegenerative diseases | Genes | Genomics | Health risks | Innate immunity | Genomes | Disease control | Immunity | Microglia | Proteins | Immune systems | Studies | Consortia | DNA microarrays | Genotyping | Gene frequency | DNA methylation | Alzheimers disease | Protein interaction | Bioinformatics | Genotypes | Index Medicus | Biological Sciences | Naturvetenskap | Natural Sciences | Biologiska vetenskaper
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2. Full Text Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease
by Naj, Adam C and Jun, Gyungah and Beecham, Gary W and Wang, Li-San and Vardarajan, Badri Narayan and Buros, Jacqueline and Gallins, Paul J and Buxbaum, Joseph D and Jarvik, Gail P and Crane, Paul K and Larson, Eric B and Bird, Thomas D and Boeve, Bradley F and Graff-Radford, Neill R and De Jager, Philip L and Evans, Denis and Schneider, Julie A and Carrasquillo, Minerva M and Ertekin-Taner, Nilufer and Younkin, Steven G and Cruchaga, Carlos and Kauwe, John S. K and Nowotny, Petra and Kramer, Patricia and Hardy, John and Huentelman, Matthew J and Myers, Amanda J and Barmada, Michael M and Demirci, F Yesim and Baldwin, Clinton T and Green, Robert C and Rogaeva, Ekaterina and George-Hyslop, Peter St and Arnold, Steven E and Barber, Robert and Beach, Thomas and Bigio, Eileen H and Bowen, James D and Boxer, Adam and Burke, James R and Cairns, Nigel J and Carlson, Chris S and Carney, Regina M and Carroll, Steven L and Chui, Helena C and Clark, David G and Corneveaux, Jason and Cotman, Carl W and Cummings, Jeffrey L and Decarli, Charles and Dekosky, Steven T and Diaz-Arrastia, Ramon and Dick, Malcolm and Dickson, Dennis W and Ellis, William G and Faber, Kelley M and Fallon, Kenneth B and Farlow, Martin R and Ferris, Steven and Frosch, Matthew P and Galasko, Douglas R and Ganguli, Mary and Gearing, Marla and Geschwind, Daniel H and Ghetti, Bernardino and Gilbert, John R and Gilman, Sid and Giordani, Bruno and Glass, Jonathan D and Growdon, John H and Hamilton, Ronald L and Harrell, Lindy E and Head, Elizabeth and Honig, Lawrence S and Hulette, Christine M and Hyman, Bradley T and Jicha, Gregory A and Jin, Lee-Way and Johnson, Nancy and Karlawish, Jason and Karydas, Anna and Kaye, Jeffrey A and Kim, Ronald and Koo, Edward H and Kowall, Neil W and Lah, James J and Levey, Allan I and Lieberman, Andrew P and Lopez, Oscar L and MacK, Wendy J and Marson, Daniel C and Martiniuk, Frank and Mash, Deborah C and Masliah, Eliezer and McCormick, Wayne C and McCurry, Susan M and McDavid, Andrew N and McKee, Ann C and Mesulam, Marsel and Miller, Bruce L and ...
Nature Genetics, ISSN 1061-4036, 05/2011, Volume 43, Issue 5, pp. 436 - 443
The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association study of late-onset Alzheimer disease using a three-stage design... 
POPULATION | IDENTIFIES VARIANTS | METAANALYSIS | GENE | GENETICS & HEREDITY | RISK | LOCI | APOE | MISSENSE MUTATIONS | GENOME-WIDE ASSOCIATION | APOLIPOPROTEIN-E | Genetic Predisposition to Disease | Genome-Wide Association Study | Multigene Family | Cytoskeletal Proteins - genetics | Membrane Proteins - genetics | Humans | Databases, Genetic | Male | Antigens, CD - genetics | Antigens, Differentiation, Myelomonocytic - genetics | Genetic Variation | Receptor, EphA1 - genetics | Adaptor Proteins, Signal Transducing - genetics | Age of Onset | Aged, 80 and over | Female | Aged | Polymorphism, Single Nucleotide | Sialic Acid Binding Ig-like Lectin 3 | Alzheimer Disease - genetics | Cohort Studies | Conferences, meetings and seminars | Alzheimer's disease | Medical societies | Studies | Medical research | Genomes | Statistical methods | Alzheimers disease | Independent sample | Meta-analysis | Index Medicus
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3. Full Text Interesting case – actionable mutation in a case with a recurrent pleomorphic xanthoastrocytoma with anaplastic features
by Harada, Shuko and Fallon, Kenneth B and Reddy, Alyssa and Nabors, Louis Burt
Pathology, ISSN 0031-3025, 2014, Volume 46, pp. S28 - S29
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4. Full Text Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis
by Whitcomb, David C and LaRusch, Jessica and Krasinskas, Alyssa M and Klei, Lambertus and Smith, Jill P and Brand, Randall E and Neoptolemos, John P and Lerch, Markus M and Tector, Matt and Sandhu, Bimaljit S and Guda, Nalini M and Orlichenko, Lidiya and Alkaade, Samer and Amann, Stephen T and Anderson, Michelle A and Baillie, John and Banks, Peter A and Conwell, Darwin and Coté, Gregory A and Cotton, Peter B and DiSario, James and Farrer, Lindsay A and Forsmark, Chris E and Johnstone, Marianne and Gardner, Timothy B and Gelrud, Andres and Greenhalf, William and Haines, Jonathan L and Hartman, Douglas J and Hawes, Robert A and Lawrence, Christopher and Lewis, Michele and Mayerle, Julia and Mayeux, Richard and Melhem, Nadine M and Money, Mary E and Muniraj, Thiruvengadam and Papachristou, Georgios I and Pericak-Vance, Margaret A and Romagnuolo, Joseph and Schellenberg, Gerard D and Sherman, Stuart and Simon, Peter and Singh, Vijay P and Slivka, Adam and Stolz, Donna and Sutton, Robert and Weiss, Frank Ulrich and Wilcox, C. Mel and Zarnescu, Narcis Octavian and Wisniewski, Stephen R and O'Connell, Michael R and Kienholz, Michelle L and Roeder, Kathryn and Barmada, M Michael and Yadav, Dhiraj and Devlin, Bernie and Albert, Marilyn S and Albin, Roger L and Apostolova, Liana G and Arnold, Steven E and Baldwin, Clinton T and Barber, Robert and Barnes, Lisa L and Beach, Thomas G and Beecham, Gary W and Beekly, Duane and Bennett, David A and Bigio, Eileen H and Bird, Thomas D and Blacker, Deborah and Boxer, Adam and Burke, James R and Buxbaum, Joseph D and Cairns, Nigel J and Cantwell, Laura B and Cao, Chuanhai and Carney, Regina M and Carroll, Steven L and Chui, Helena C and Clark, David G and Cribbs, David H and Crocco, Elizabeth A and Cruchaga, Carlos and DeCarli, Charles and Demirci, F Yesim and Dick, Malcolm and Dickson, Dennis W and Duara, Ranjan and Ertekin-Taner, Nilufer and Faber, Kelley M and Fallon, Kenneth B and Farlow, Martin R and Ferris, Steven and Foroud, Tatiana M and Frosch, Matthew P and Galasko, Douglas R and Ganguli, Mary and Gearing, Marla and Geschwind, Daniel H and ... and Alzheimer's Dis Genetics Consortiu and Alzheimer's Disease Genetics Consortium
Nature Genetics, ISSN 1061-4036, 12/2012, Volume 44, Issue 12, pp. 1349 - 1354
Pancreatitis is a complex, progressively destructive inflammatory disorder. Alcohol was long thought to be the primary causative agent, but genetic... 
PATHOGENESIS | DIAGNOSIS | ACTIVATION | GENETICS & HEREDITY | CLAUDIN-2 EXPRESSION | PROMOTER | RECURRENT ACUTE | Claudins - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Pancreatitis, Alcoholic - genetics | Gene Frequency | Humans | Male | Trypsinogen - genetics | Genetic Variation | Homozygote | Pancreatitis, Alcoholic - pathology | Sex Factors | Trypsin - genetics | Female | Mutation | Pancreatitis | Physiological aspects | Disease susceptibility | Research | Gene expression | Chromosomes | Risk factors | Proteins | Genealogy | Free radicals | Rodents | Genetics | Alcohol | Genomes | Pancreas | Health risk assessment | Index Medicus
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5. Full Text Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates A beta, tau, immunity and lipid processing
by Kunkle, BW and Grenier-Boley, B and Sims, R and Bis, JC and Damotte, V and Naj, AC and Boland, A and Vronskaya, M and van der Lee, SJ and Amlie-Wolf, A and Bellenguez, C and Frizatti, A and Chouraki, V and Martin, ER and Sleegers, K and Badarinarayan, N and Jakobsdottir, J and Hamilton-Nelson, KL and Moreno-Grau, S and Olaso, R and Raybould, R and Chen, YN and Kuzma, AB and Hiltunen, M and Morgan, T and Ahmad, S and Vardarajan, BN and Epelbaum, J and Hoffmann, P and Boada, M and Beecham, GW and Garnier, JG and Harold, D and Fitzpatrick, AL and Valladares, O and Moutet, ML and Gerrish, A and Smith, AV and Qu, LM and Bacq, D and Denning, N and Jian, XQ and Zhao, Y and Del Zompo, M and Fox, NC and Choi, SH and Mateo, I and Hughes, JT and Adams, HH and Malamon, J and Sanchez-Garcia, F and Patel, Y and Brody, JA and Dombroski, BA and Naranjo, MCD and Daniilidou, M and Eiriksdottir, G and Mukherjee, S and Wallon, D and Uphill, J and Aspelund, T and Cantwell, LB and Garzia, F and Galimberti, D and Hofer, E and Butkiewicz, M and Fin, B and Scarpini, E and Sarnowski, C and Bush, WS and Meslage, S and Kornhuber, J and White, CC and Song, Y and Barber, RC and Engelborghs, S and Sordon, S and Voijnovic, D and Adams, PM and Vandenberghe, R and Mayhaus, M and Cupples, LA and Albert, MS and De Deyn, PP and Gu, W and Himali, JJ and Beekly, D and Squassina, A and Hartmann, AM and Orellana, A and Blacker, D and Rodriguez-Rodriguez, E and Lovestone, S and Garcia, ME and Doody, RS and Munoz-Fernadez, C and Sussams, R and Lin, HH and Fairchild, TJ and Benito, YA and ... and Cohorts Heart Aging Res Genomic Ep and Alzheimer Dis Genetics Consortium and European Alzheimers Dis Initiative and Genetic Environm Risk AD Defining and Alzheimer Disease Genetics Consortium (ADGC) and Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE) and European Alzheimer’s Disease Initiative (EADI) and Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES)
NATURE GENETICS, ISSN 1061-4036, 03/2019, Volume 51, Issue 3, pp. 414 - 414
Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large... 
COMMON VARIANTS | GENOTYPE IMPUTATION | AMYLOID-BETA | GENETICS & HEREDITY | DOMAIN-CONTAINING OXIDOREDUCTASE | MUTATIONS | ANGIOTENSIN-CONVERTING ENZYME | TRANSCRIPTION FACTOR | ONSET | GENOME-WIDE ASSOCIATION | APOLIPOPROTEIN-E | Genetic Predisposition to Disease - genetics | Lipids - genetics | Humans | Genetic Loci - genetics | Male | Genetic Testing - methods | Case-Control Studies | Haplotypes - genetics | tau Proteins - genetics | Amyloid beta-Peptides - genetics | Female | Lipid Metabolism - genetics | Aged | Alzheimer Disease - genetics | Genome-Wide Association Study - methods | Immunity - genetics | Ontology | Genomics | Genes | Lipids | Genomes | Mapping | Family medical history | Immunity | Risk factors | Protein turnover | Datasets | Proteins | Consortia | Genetic analysis | Dementia disorders | Genetics | Lipid metabolism | Alzheimer's disease | Age | ADAMTS-1 protein | Neurodegenerative diseases | Health risks | Metabolism | Risk analysis | Amyloid precursor protein | Meta-analysis | White blood cells | Genetic variance | Tau protein | Histocompatibility antigen HLA | Gene loci | Gene mapping | Alzheimers disease | Secretase | Dementia | Index Medicus
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6. Full Text A novel Alzheimer disease locus located near the gene encoding tau protein
by Jun, Yang and Ibrahim-Verbaas, Carla and Vronskaya, M and Lambert, J.-C and Chung, J and Naj, Adam and Kunkle, Brian and Wang, L.-S and Bis, Joshua and Bellenguez, Céline and Harold, Denise and Lunetta, Kathryn and DeStefano, Anita L and Grenier-Boley, Benjamin and Sims, Rebecca and Beecham, G.W and Smith, A.V and Chouraki, Vincent and Hamilton-Nelson, Kara and Ikram, Arfan and Fiévet, Nathalie and Denning, Nicola and Martin, E.R and Schmidt, H and Kamatani, Y and Dunstan, M.L and Valladares, Otto and Laza, A.R and Zelenika, Diana and Ramirez, Alfredo and Foroud, Tatiana and Choi, Seung-Hoan and Boland, A and Becker, T and Kukull, W.A and Lee, Sven and Pasquier, Florence and Cruchaga, Carlos and Beekly, Duane and Fitzpatrick, Annette and Hanon, Olivier and Gill, M and Barber, Rachel and Gudnason, Vilmundur and Campion, D and Love, S and Bennett, David A and Amin, Najaf and Berr, Claudine and Tsolaki, Magda and Buxbaum, J.D and Lopez, O.L and Deramecourt, Vincent and Fox, N.C and Cantwell, Laura B and Tárraga, L and Dufouil, Carole and Hardy, J and Crane, L.M.A and Eiriksdottir, Gudny and Hannequin, Didier and Clarke, Robert and Evans, D and Mosley, Thomas H and Letenneur, L and Brayne, Carol and Maier, W and De Jager, P and Emilsson, Valur and Dartigues, Jean-François and Hampel, H and Kamboh, M. Ilyas and Bruijn, Renée and Tzourio, Christophe and Pastor, Pau and Larson, Eric B and Rotter, J.I and O'donovan, Michael and Montine, Thomas J and Nalls, Michael and Mead, Simon and Reiman, Eric and Jonsson, P.V and Holmes, C and St George-Hyslop, P.H and Boada, Mercè and Passmore, Peter and Wendland, Annika and Schmidt, R and Morgan, Kevin and Winslow, A.R and Powell, J.F and Carasquillo, M and Younkin, S and Jakobsdottir, Margret and Kauwe, J.S.K and Wilhelmsen, K.C and Rujescu, Dan and Nöthen, Markus M and Hofman, Albert and ... and IGAP Consortium
Molecular Psychiatry, ISSN 1359-4184, 01/2016, Volume 21, Issue 1, pp. 108 - 117
textabstractAPOE ε4, the most significant genetic risk factor for Alzheimer disease (AD), may mask effects of other loci. We re-analyzed genome-wide... 
COMMON VARIANTS | ASSOCIATION ANALYSIS | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | SUSCEPTIBILITY LOCI | KANSL1 CAUSE | FRONTOTEMPORAL LOBAR DEGENERATION | NEUROSCIENCES | RISK-FACTOR | MAPT LOCUS | TMEM106B | HAPLOTYPE | EXPRESSION | Complications and side effects | Care and treatment | Usage | Influence | Research | Single nucleotide polymorphisms | Apolipoproteins | Alzheimer's disease | Index Medicus
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7. Full Text Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting
by Chauhan, Ganesh and Adams, Hieab H.H and Satizabal, Claudia L and Bis, Joshua C and Teumer, Alexander and Sargurupremraj, Muralidharan and Hofer, Edith and Trompet, Stella and Hilal, Saima and Smith, Albert Vernon and Jian, Xueqiu and Malik, Rainer and Traylor, Matthew and Pulit, Sara L and Amouyel, Philippe and Mazoyer, Bernard and Zhu, Yi-Cheng and Kaffashian, Sara and Schilling, Sabrina and Beecham, Gary W and Montine, Thomas J and Schellenberg, Gerard D and Kjartansson, Olafur and Guðnason, Vilmundur and Knopman, David S and Griswold, Michael E and Windham, B