Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs7225151

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.

Nature Genetics

Holstege, Henne H; Hulsman, Marc M; Charbonnier, Camille C; Grenier-Boley, Benjamin B; Quenez, Olivier O; Grozeva, Detelina D; van Rooij, Jeroen G J JGJ; Sims, Rebecca R; Ahmad, Shahzad S; Amin, Najaf N; Norsworthy, Penny J PJ; Dols-Icardo, Oriol O; Hummerich, Holger H; Kawalia, Amit A; Amouyel, Philippe P; Beecham, Gary W GW; Berr, Claudine C; Bis, Joshua C JC; Boland, Anne A; Bossù, Paola P; Bouwman, Femke F; Bras, Jose J; Campion, Dominique D; Cochran, J Nicholas JN; Daniele, Antonio A; Dartigues, Jean-François JF; Debette, Stéphanie S; Deleuze, Jean-François JF; Denning, Nicola N; DeStefano, Anita L AL; Farrer, Lindsay A LA; Fernández, Maria Victoria MV; Fox, Nick C NC; Galimberti, Daniela D; Genin, Emmanuelle E; Gille, Johan J P JJP; Le Guen, Yann Y; Guerreiro, Rita R; Haines, Jonathan L JL; Holmes, Clive C; Ikram, M Arfan MA; Ikram, M Kamran MK; Jansen, Iris E IE; Kraaij, Robert R; Lathrop, Marc M; Lemstra, Afina W AW; Lleó, Alberto A; Luckcuck, Lauren L; Mannens, Marcel M A M MMAM; Marshall, Rachel R; Martin, Eden R ER; Masullo, Carlo C; Mayeux, Richard R; Mecocci, Patrizia P; Meggy, Alun A; Mol, Merel O MO; Morgan, Kevin K; Myers, Richard M RM; Nacmias, Benedetta B; Naj, Adam C AC; Napolioni, Valerio V; Pasquier, Florence F; Pastor, Pau P; Pericak-Vance, Margaret A MA; Raybould, Rachel R; Redon, Richard R; Reinders, Marcel J T MJT; Richard, Anne-Claire AC; Riedel-Heller, Steffi G SG; Rivadeneira, Fernando F; Rousseau, Stéphane S; Ryan, Natalie S NS; Saad, Salha S; Sanchez-Juan, Pascual P; Schellenberg, Gerard D GD; Scheltens, Philip P; Schott, Jonathan M JM; Seripa, Davide D; Seshadri, Sudha S; Sie, Daoud D; Sistermans, Erik A EA; Sorbi, Sandro S; van Spaendonk, Resie R; Spalletta, Gianfranco G; Tesi, Niccolo' N; Tijms, Betty B; Uitterlinden, André G AG; van der Lee, Sven J SJ; Visser, Pieter Jelle PJ; Wagner, Michael M; Wallon, David D; Wang, Li-San LS; Zarea, Aline A; Clarimon, Jordi J; van Swieten, John C JC; Greicius, Michael D MD; Yokoyama, Jennifer S JS; Cruchaga, Carlos C; Hardy, John J; Ramirez, Alfredo A; Mead, Simon S; van der Flier, Wiesje M WM; van Duijn, Cornelia M CM; Williams, Julie J; Nicolas, Gaël G; Bellenguez, Céline C; Lambert, Jean-Charles JC

Publication Date: 2022-12

Variant appearance in text: rs7225151

PubMed Link: 36411364

Variant Present in the following documents:

• 41588_2022_1208_MOESM1_ESM.pdf

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Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers.

Acta Neuropathologica

Jansen, Iris E IE; van der Lee, Sven J SJ; Gomez-Fonseca, Duber D; de Rojas, Itziar I; Dalmasso, Maria Carolina MC; Grenier-Boley, Benjamin B; Zettergren, Anna A; Mishra, Aniket A; Ali, Muhammad M; Andrade, Victor V; Bellenguez, Céline C; Kleineidam, Luca L; Küçükali, Fahri F; Sung, Yun Ju YJ; Tesí, Niccolo N; Vromen, Ellen M EM; Wightman, Douglas P DP; Alcolea, Daniel D; Alegret, Montserrat M; Alvarez, Ignacio I; Amouyel, Philippe P; Athanasiu, Lavinia L; Bahrami, Shahram S; Bailly, Henri H; Belbin, Olivia O; Bergh, Sverre S; Bertram, Lars L; Biessels, Geert Jan GJ; Blennow, Kaj K; Blesa, Rafael R; Boada, Mercè M; Boland, Anne A; Buerger, Katharina K; Carracedo, Ángel Á; Cervera-Carles, Laura L; Chene, Geneviève G; Claassen, Jurgen A H R JAHR; Debette, Stephanie S; Deleuze, Jean-Francois JF; de Deyn, Peter Paul PP; Diehl-Schmid, Janine J; Djurovic, Srdjan S; Dols-Icardo, Oriol O; Dufouil, Carole C; Duron, Emmanuelle E; Düzel, Emrah E; , ; Fladby, Tormod T; Fortea, Juan J; Frölich, Lutz L; García-González, Pablo P; Garcia-Martinez, Maria M; Giegling, Ina I; Goldhardt, Oliver O; Gobom, Johan J; Grimmer, Timo T; Haapasalo, Annakaisa A; Hampel, Harald H; Hanon, Olivier O; Hausner, Lucrezia L; Heilmann-Heimbach, Stefanie S; Helisalmi, Seppo S; Heneka, Michael T MT; Hernández, Isabel I; Herukka, Sanna-Kaisa SK; Holstege, Henne H; Jarholm, Jonas J; Kern, Silke S; Knapskog, Anne-Brita AB; Koivisto, Anne M AM; Kornhuber, Johannes J; Kuulasmaa, Teemu T; Lage, Carmen C; Laske, Christoph C; Leinonen, Ville V; Lewczuk, Piotr P; Lleó, Alberto A; de Munain, Adolfo López AL; Lopez-Garcia, Sara S; Maier, Wolfgang W; Marquié, Marta M; Mol, Merel O MO; Montrreal, Laura L; Moreno, Fermin F; Moreno-Grau, Sonia S; Nicolas, Gael G; Nöthen, Markus M MM; Orellana, Adelina A; Pålhaugen, Lene L; Papma, Janne M JM; Pasquier, Florence F; Perneczky, Robert R; Peters, Oliver O; Pijnenburg, Yolande A L YAL; Popp, Julius J; Posthuma, Danielle D; Pozueta, Ana A; Priller, Josef J; Puerta, Raquel R; Quintela, Inés I; Ramakers, Inez I; Rodriguez-Rodriguez, Eloy E; Rujescu, Dan D; Saltvedt, Ingvild I; Sanchez-Juan, Pascual P; Scheltens, Philip P; Scherbaum, Norbert N; Schmid, Matthias M; Schneider, Anja A; Selbæk, Geir G; Selnes, Per P; Shadrin, Alexey A; Skoog, Ingmar I; Soininen, Hilkka H; Tárraga, Lluís L; Teipel, Stefan S; , ; Tijms, Betty B; Tsolaki, Magda M; Van Broeckhoven, Christine C; Van Dongen, Jasper J; van Swieten, John C JC; Vandenberghe, Rik R; Vidal, Jean-Sébastien JS; Visser, Pieter J PJ; Vogelgsang, Jonathan J; Waern, Margda M; Wagner, Michael M; Wiltfang, Jens J; Wittens, Mandy M J MMJ; Zetterberg, Henrik H; Zulaica, Miren M; van Duijn, Cornelia M CM; Bjerke, Maria M; Engelborghs, Sebastiaan S; Jessen, Frank F; Teunissen, Charlotte E CE; Pastor, Pau P; Hiltunen, Mikko M; Ingelsson, Martin M; Andreassen, Ole A OA; Clarimón, Jordi J; Sleegers, Kristel K; Ruiz, Agustín A; Ramirez, Alfredo A; Cruchaga, Carlos C; Lambert, Jean-Charles JC; van der Flier, Wiesje W

Publication Date: 2022-11

Variant appearance in text: rs7225151

PubMed Link: 36066633

Variant Present in the following documents:

• Main text
• 401_2022_Article_2454.pdf

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New insights into the genetic etiology of Alzheimer's disease and related dementias.

Nature Genetics

Bellenguez, Céline C; Küçükali, Fahri F; Jansen, Iris E IE; Kleineidam, Luca L; Moreno-Grau, Sonia S; Amin, Najaf N; Naj, Adam C AC; Campos-Martin, Rafael R; Grenier-Boley, Benjamin B; Andrade, Victor V; Holmans, Peter A PA; Boland, Anne A; Damotte, Vincent V; van der Lee, Sven J SJ; Costa, Marcos R MR; Kuulasmaa, Teemu T; Yang, Qiong Q; de Rojas, Itziar I; Bis, Joshua C JC; Yaqub, Amber A; Prokic, Ivana I; Chapuis, Julien J; Ahmad, Shahzad S; Giedraitis, Vilmantas V; Aarsland, Dag D; Garcia-Gonzalez, Pablo P; Abdelnour, Carla C; Alarcón-Martín, Emilio E; Alcolea, Daniel D; Alegret, Montserrat M; Alvarez, Ignacio I; Álvarez, Victoria V; Armstrong, Nicola J NJ; Tsolaki, Anthoula A; Antúnez, Carmen C; Appollonio, Ildebrando I; Arcaro, Marina M; Archetti, Silvana S; Pastor, Alfonso Arias AA; Arosio, Beatrice B; Athanasiu, Lavinia L; Bailly, Henri H; Banaj, Nerisa N; Baquero, Miquel M; Barral, Sandra S; Beiser, Alexa A; Pastor, Ana Belén AB; Below, Jennifer E JE; Benchek, Penelope P; Benussi, Luisa L; Berr, Claudine C; Besse, Céline C; Bessi, Valentina V; Binetti, Giuliano G; Bizarro, Alessandra A; Blesa, Rafael R; Boada, Mercè M; Boerwinkle, Eric E; Borroni, Barbara B; Boschi, Silvia S; Bossù, Paola P; Bråthen, Geir G; Bressler, Jan J; Bresner, Catherine C; Brodaty, Henry H; Brookes, Keeley J KJ; Brusco, Luis Ignacio LI; Buiza-Rueda, Dolores D; Bûrger, Katharina K; Burholt, Vanessa V; Bush, William S WS; Calero, Miguel M; Cantwell, Laura B LB; Chene, Geneviève G; Chung, Jaeyoon J; Cuccaro, Michael L ML; Carracedo, Ángel Á; Cecchetti, Roberta R; Cervera-Carles, Laura L; Charbonnier, Camille C; Chen, Hung-Hsin HH; Chillotti, Caterina C; Ciccone, Simona S; Claassen, Jurgen A H R JAHR; Clark, Christopher C; Conti, Elisa E; Corma-Gómez, Anaïs A; Costantini, Emanuele E; Custodero, Carlo C; Daian, Delphine D; Dalmasso, Maria Carolina MC; Daniele, Antonio A; Dardiotis, Efthimios E; Dartigues, Jean-François JF; de Deyn, Peter Paul PP; de Paiva Lopes, Katia K; de Witte, Lot D LD; Debette, Stéphanie S; Deckert, Jürgen J; Del Ser, Teodoro T; Denning, Nicola N; DeStefano, Anita A; Dichgans, Martin M; Diehl-Schmid, Janine J; Diez-Fairen, Mónica M; Rossi, Paolo Dionigi PD; Djurovic, Srdjan S; Duron, Emmanuelle E; Düzel, Emrah E; Dufouil, Carole C; Eiriksdottir, Gudny G; Engelborghs, Sebastiaan S; Escott-Price, Valentina V; Espinosa, Ana A; Ewers, Michael M; Faber, Kelley M KM; Fabrizio, Tagliavini T; Nielsen, Sune Fallgaard SF; Fardo, David W DW; Farotti, Lucia L; Fenoglio, Chiara C; Fernández-Fuertes, Marta M; Ferrari, Raffaele R; Ferreira, Catarina B CB; Ferri, Evelyn E; Fin, Bertrand B; Fischer, Peter P; Fladby, Tormod T; Fließbach, Klaus K; Fongang, Bernard B; Fornage, Myriam M; Fortea, Juan J; Foroud, Tatiana M TM; Fostinelli, Silvia S; Fox, Nick C NC; Franco-Macías, Emlio E; Bullido, María J MJ; Frank-García, Ana A; Froelich, Lutz L; Fulton-Howard, Brian B; Galimberti, Daniela D; García-Alberca, Jose Maria JM; García-González, Pablo P; Garcia-Madrona, Sebastian S; Garcia-Ribas, Guillermo G; Ghidoni, Roberta R; Giegling, Ina I; Giorgio, Giaccone G; Goate, Alison M AM; Goldhardt, Oliver O; Gomez-Fonseca, Duber D; González-Pérez, Antonio A; Graff, Caroline C; Grande, Giulia G; Green, Emma E; Grimmer, Timo T; Grünblatt, Edna E; Grunin, Michelle M; Gudnason, Vilmundur V; Guetta-Baranes, Tamar T; Haapasalo, Annakaisa A; Hadjigeorgiou, Georgios G; Haines, Jonathan L JL; Hamilton-Nelson, Kara L KL; Hampel, Harald H; Hanon, Olivier O; Hardy, John J; Hartmann, Annette M AM; Hausner, Lucrezia L; Harwood, Janet J; Heilmann-Heimbach, Stefanie S; Helisalmi, Seppo S; Heneka, Michael T MT; Hernández, Isabel I; Herrmann, Martin J MJ; Hoffmann, Per P; Holmes, Clive C; Holstege, Henne H; Vilas, Raquel Huerto RH; Hulsman, Marc M; Humphrey, Jack J; Biessels, Geert Jan GJ; Jian, Xueqiu X; Johansson, Charlotte C; Jun, Gyungah R GR; Kastumata, Yuriko Y; Kauwe, John J; Kehoe, Patrick G PG; Kilander, Lena L; Ståhlbom, Anne Kinhult AK; Kivipelto, Miia M; Koivisto, Anne A; Kornhuber, Johannes J; Kosmidis, Mary H MH; Kukull, Walter A WA; Kuksa, Pavel P PP; Kunkle, Brian W BW; Kuzma, Amanda B AB; Lage, Carmen C; Laukka, Erika J EJ; Launer, Lenore L; Lauria, Alessandra A; Lee, Chien-Yueh CY; Lehtisalo, Jenni J; Lerch, Ondrej O; Lleó, Alberto A; Longstreth, William W; Lopez, Oscar O; de Munain, Adolfo Lopez AL; Love, Seth S; Löwemark, Malin M; Luckcuck, Lauren L; Lunetta, Kathryn L KL; Ma, Yiyi Y; Macías, Juan J; MacLeod, Catherine A CA; Maier, Wolfgang W; Mangialasche, Francesca F; Spallazzi, Marco M; Marquié, Marta M; Marshall, Rachel R; Martin, Eden R ER; Montes, Angel Martín AM; Rodríguez, Carmen Martínez CM; Masullo, Carlo C; Mayeux, Richard R; Mead, Simon S; Mecocci, Patrizia P; Medina, Miguel M; Meggy, Alun A; Mehrabian, Shima S; Mendoza, Silvia S; Menéndez-González, Manuel M; Mir, Pablo P; Moebus, Susanne S; Mol, Merel M; Molina-Porcel, Laura L; Montrreal, Laura L; Morelli, Laura L; Moreno, Fermin F; Morgan, Kevin K; Mosley, Thomas T; Nöthen, Markus M MM; Muchnik, Carolina C; Mukherjee, Shubhabrata S; Nacmias, Benedetta B; Ngandu, Tiia T; Nicolas, Gael G; Nordestgaard, Børge G BG; Olaso, Robert R; Orellana, Adelina A; Orsini, Michela M; Ortega, Gemma G; Padovani, Alessandro A; Paolo, Caffarra C; Papenberg, Goran G; Parnetti, Lucilla L; Pasquier, Florence F; Pastor, Pau P; Peloso, Gina G; Pérez-Cordón, Alba A; Pérez-Tur, Jordi J; Pericard, Pierre P; Peters, Oliver O; Pijnenburg, Yolande A L YAL; Pineda, Juan A JA; Piñol-Ripoll, Gerard G; Pisanu, Claudia C; Polak, Thomas T; Popp, Julius J; Posthuma, Danielle D; Priller, Josef J; Puerta, Raquel R; Quenez, Olivier O; Quintela, Inés I; Thomassen, Jesper Qvist JQ; Rábano, Alberto A; Rainero, Innocenzo I; Rajabli, Farid F; Ramakers, Inez I; Real, Luis M LM; Reinders, Marcel J T MJT; Reitz, Christiane C; Reyes-Dumeyer, Dolly D; Ridge, Perry P; Riedel-Heller, Steffi S; Riederer, Peter P; Roberto, Natalia N; Rodriguez-Rodriguez, Eloy E; Rongve, Arvid A; Allende, Irene Rosas IR; Rosende-Roca, Maitée M; Royo, Jose Luis JL; Rubino, Elisa E; Rujescu, Dan D; Sáez, María Eugenia ME; Sakka, Paraskevi P; Saltvedt, Ingvild I; Sanabria, Ángela Á; Sánchez-Arjona, María Bernal MB; Sanchez-Garcia, Florentino F; Juan, Pascual Sánchez PS; Sánchez-Valle, Raquel R; Sando, Sigrid B SB; Sarnowski, Chloé C; Satizabal, Claudia L CL; Scamosci, Michela M; Scarmeas, Nikolaos N; Scarpini, Elio E; Scheltens, Philip P; Scherbaum, Norbert N; Scherer, Martin M; Schmid, Matthias M; Schneider, Anja A; Schott, Jonathan M JM; Selbæk, Geir G; Seripa, Davide D; Serrano, Manuel M; Sha, Jin J; Shadrin, Alexey A AA; Skrobot, Olivia O; Slifer, Susan S; Snijders, Gijsje J L GJL; Soininen, Hilkka H; Solfrizzi, Vincenzo V; Solomon, Alina A; Song, Yeunjoo Y; Sorbi, Sandro S; Sotolongo-Grau, Oscar O; Spalletta, Gianfranco G; Spottke, Annika A; Squassina, Alessio A; Stordal, Eystein E; Tartan, Juan Pablo JP; Tárraga, Lluís L; Tesí, Niccolo N; Thalamuthu, Anbupalam A; Thomas, Tegos T; Tosto, Giuseppe G; Traykov, Latchezar L; Tremolizzo, Lucio L; Tybjærg-Hansen, Anne A; Uitterlinden, Andre A; Ullgren, Abbe A; Ulstein, Ingun I; Valero, Sergi S; Valladares, Otto O; Broeckhoven, Christine Van CV; Vance, Jeffery J; Vardarajan, Badri N BN; van der Lugt, Aad A; Dongen, Jasper Van JV; van Rooij, Jeroen J; van Swieten, John J; Vandenberghe, Rik R; Verhey, Frans F; Vidal, Jean-Sébastien JS; Vogelgsang, Jonathan J; Vyhnalek, Martin M; Wagner, Michael M; Wallon, David D; Wang, Li-San LS; Wang, Ruiqi R; Weinhold, Leonie L; Wiltfang, Jens J; Windle, Gill G; Woods, Bob B; Yannakoulia, Mary M; Zare, Habil H; Zhao, Yi Y; Zhang, Xiaoling X; Zhu, Congcong C; Zulaica, Miren M; , ; , ; , ; , ; , ; , ; , ; , ; , ; Farrer, Lindsay A LA; Psaty, Bruce M BM; Ghanbari, Mohsen M; Raj, Towfique T; Sachdev, Perminder P; Mather, Karen K; Jessen, Frank F; Ikram, M Arfan MA; de Mendonça, Alexandre A; Hort, Jakub J; Tsolaki, Magda M; Pericak-Vance, Margaret A MA; Amouyel, Philippe P; Williams, Julie J; Frikke-Schmidt, Ruth R; Clarimon, Jordi J; Deleuze, Jean-François JF; Rossi, Giacomina G; Seshadri, Sudha S; Andreassen, Ole A OA; Ingelsson, Martin M; Hiltunen, Mikko M; Sleegers, Kristel K; Schellenberg, Gerard D GD; van Duijn, Cornelia M CM; Sims, Rebecca R; van der Flier, Wiesje M WM; Ruiz, Agustín A; Ramirez, Alfredo A; Lambert, Jean-Charles JC

Publication Date: 2022-04

Variant appearance in text: rs7225151

PubMed Link: 35379992

Variant Present in the following documents:

• Main text
• 41588_2022_Article_1024.pdf

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Polympact: exploring functional relations among common human genetic variants.

Nucleic Acids Research

Valentini, Samuel S; Gandolfi, Francesco F; Carolo, Mattia M; Dalfovo, Davide D; Pozza, Lara L; Romanel, Alessandro A

Publication Date: 2022-02-22

Variant appearance in text: rs7225151

PubMed Link: 35061909

Variant Present in the following documents:

• Main text
• gkac024.pdf

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Genomics and Functional Genomics of Alzheimer's Disease.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Kamboh, M Ilyas MI

Publication Date: 2022-01

Variant appearance in text: rs7225151

PubMed Link: 34935119

Variant Present in the following documents:

• Main text
• 13311_2021_Article_1152.pdf

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Probability of Alzheimer's disease based on common and rare genetic variants.

Alzheimer'S Research & Therapy

Escott-Price, Valentina V; Schmidt, Karl Michael KM

Publication Date: 2021-08-17

Variant appearance in text: rs7225151

PubMed Link: 34404470

Variant Present in the following documents:

• 13195_2021_884_MOESM1_ESM.pdf

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Genetic Variability in Molecular Pathways Implicated in Alzheimer's Disease: A Comprehensive Review.

Frontiers In Aging Neuroscience

Vogrinc, David D; Goričar, Katja K; Dolžan, Vita V

Publication Date: 2021

Variant appearance in text: rs7225151

PubMed Link: 33815092

Variant Present in the following documents:

• Main text
• fnagi-13-646901.pdf

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Interpretation of risk loci from genome-wide association studies of Alzheimer's disease.

The Lancet. Neurology

Andrews, Shea J SJ; Fulton-Howard, Brian B; Goate, Alison A

Publication Date: 2020-04

Variant appearance in text: rs7225151

PubMed Link: 31986256

Variant Present in the following documents:

• Main text

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Follow-up of loci from the International Genomics of Alzheimer's Disease Project identifies TRIP4 as a novel susceptibility gene.

Translational Psychiatry

Ruiz, A A; Heilmann, S S; Becker, T T; Hernández, I I; Wagner, H H; Thelen, M M; Mauleón, A A; Rosende-Roca, M M; Bellenguez, C C; Bis, J C JC; Harold, D D; Gerrish, A A; Sims, R R; Sotolongo-Grau, O O; Espinosa, A A; Alegret, M M; Arrieta, J L JL; Lacour, A A; Leber, M M; Becker, J J; Lafuente, A A; Ruiz, S S; Vargas, L L; Rodríguez, O O; Ortega, G G; Dominguez, M-A MA; , ; Mayeux, R R; Haines, J L JL; Pericak-Vance, M A MA; Farrer, L A LA; Schellenberg, G D GD; Chouraki, V V; Launer, L J LJ; van Duijn, C C; Seshadri, S S; Antúnez, C C; Breteler, M M MM; Serrano-Ríos, M M; Jessen, F F; Tárraga, L L; Nöthen, M M MM; Maier, W W; Boada, M M; Ramírez, A A

Publication Date: 2014-02-04

Variant appearance in text: rs7225151

PubMed Link: 24495969

Variant Present in the following documents:

• Main text
• tp20142a.pdf

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