Search Results - "Eger, Sarah J."

A novel age-informed approach for genetic association analysis in Alzheimer's disease by Le Guen, Yann, Belloy, Michael E, Napolioni, Valerio, Eger, Sarah J, Kennedy, Gabriel, Tao, Ran, He, Zihuai, Greicius, Michael D

“…Many Alzheimer's disease (AD) genetic association studies disregard age or incorrectly account for it, hampering variant discovery. Using simulated data, we…”
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Common X‐Chromosome Variants Are Associated with Parkinson Disease Risk by Le Guen, Yann, Napolioni, Valerio, Belloy, Michael E., Yu, Eric, Krohn, Lynne, Ruskey, Jennifer A., Gan‐Or, Ziv, Kennedy, Gabriel, Eger, Sarah J., Greicius, Michael D.

“…Objective The objective of this study was to identify genetic variants on the X‐chromosome associated with Parkinson disease (PD) risk. Methods We performed an…”
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Association of African Ancestry–Specific APOE Missense Variant R145C With Risk of Alzheimer Disease by Le Guen, Yann, Raulin, Ana-Caroline, Logue, Mark W, Sherva, Richard, Belloy, Michael E, Eger, Sarah J, Chen, Annabel, Kennedy, Gabriel, Kuchenbecker, Lindsey, O’Leary, Justin P, Zhang, Rui, Merritt, Victoria C, Panizzon, Matthew S, Hauger, Richard L, Gaziano, J. Michael, Bu, Guojun, Thornton, Timothy A, Farrer, Lindsay A, Napolioni, Valerio, He, Zihuai, Greicius, Michael D

“…IMPORTANCE: Numerous studies have established the association of the common APOE ε2 and APOE ε4 alleles with Alzheimer disease (AD) risk across ancestries…”
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Single-nucleus RNA sequencing demonstrates an autosomal dominant Alzheimer's disease profile and possible mechanisms of disease protection by Almeida, Maria Camila, Eger, Sarah J, He, Caroline, Audouard, Morgane, Nikitina, Arina, Glasauer, Stella M K, Han, Dasol, Mejía-Cupajita, Barbara, Acosta-Uribe, Juliana, Villalba-Moreno, Nelson David, Littau, Jessica Lisa, Elcheikhali, Megan, Rivera, Erica Keane, Carrettiero, Daniel Carneiro, Villegas-Lanau, Carlos Andrés, Sepulveda-Falla, Diego, Lopera, Francisco, Kosik, Kenneth S

“…Highly penetrant autosomal dominant Alzheimer's disease (ADAD) comprises a distinct disease entity as compared to the far more prevalent form of AD in which…”
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APOE4‐stratified genome‐wide association study of Alzheimer’s disease in over 350,000 individuals by Belloy, Michael E, Eger, Sarah J, Guen, Yann Le, Kennedy, Gabriel, He, Zihuai, Napolioni, Valerio, Greicius, Michael D

“…Background APOE*4 is the strongest genetic risk factor for late‐onset Alzheimer’s disease (AD) and is highly pleiotropic, such that it may be considered as a…”
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Sex‐heterogenous effect on Alzheimer’s disease risk at the BIN1 locus by Guen, Yann Le, Eger, Sarah J, Belloy, Michael E, Kennedy, Gabriel, He, Zihuai, Napolioni, Valerio, Greicius, Michael D

“…Background Among Alzheimer’s Disease (AD) tier 1 genes, BIN1 shows the greatest sex‐biased expression in GTEx RNASeq, notably in brain tissues. Fine‐mapping…”
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Rare TBK1 variant may confer protection in an APOE4+ family by Eger, Sarah J, Guen, Yann Le, Belloy, Michael E, Napolioni, Valerio, Greicius, Michael D

“…Background Rare variants are hypothesized to contribute greatly to the “missing heritability” in AD. APOE*4 is the strongest genetic risk factor for late‐onset…”
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A novel age‐informed approach for genetic association analysis in Alzheimer’s disease by Guen, Yann Le, Belloy, Michael E, Napolioni, Valerio, Eger, Sarah J, Kennedy, Gabriel, Tao, Ran, He, Zihuai, Greicius, Michael D

“…Background The increased risk of Alzheimer’s Disease (AD) with age is well established. However, genome‐wide association studies of AD have often wrongly…”
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KL∗VS heterozygosity reduces brain amyloid in asymptomatic at-risk APOE∗4 carriers by Belloy, Michael E., Eger, Sarah J., Le Guen, Yann, Napolioni, Valerio, Deters, Kacie D., Yang, Hyun-Sik, Scelsi, Marzia A., Porter, Tenielle, James, Sarah-Naomi, Wong, Andrew, Schott, Jonathan M., Sperling, Reisa A., Laws, Simon M., Mormino, Elisabeth C., He, Zihuai, Han, Summer S., Altmann, Andre, Greicius, Michael D.

“…KLOTHO∗VS heterozygosity (KL∗VSHET+) was recently shown to be associated with reduced risk of Alzheimer’s disease (AD) in APOE∗4 carriers. Additional studies…”
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A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data by Belloy, Michael E., Le Guen, Yann, Eger, Sarah J., Napolioni, Valerio, Greicius, Michael D., He, Zihuai

“…Exome sequencing (ES) and genome sequencing (GS) are expected to be critical to further elucidate the missing genetic heritability of Alzheimer disease (AD)…”
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Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease by Eger, Sarah J., Le Guen, Yann, Khan, Raiyan R., Hall, Jacob N., Kennedy, Gabriel, Zaharchuk, Greg, Couthouis, Julien, Brooks, William S., Velakoulis, Dennis, Napolioni, Valerio, Belloy, Michaël E., Dalgard, Clifton L., Mormino, Elizabeth C., Gitler, Aaron D., Greicius, Michael D.

“…The F386L variant has been reported in 1 Japanese family with limited clinical information. We aimed to prove that F386L is pathogenic by demonstrating that it…”
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GWAS of Genetic Resilience to Age‐Related Risk for Alzheimer’s Disease in Admixed African Ancestry Individuals by Belloy, Michael E, Guen, Yann Le, Eger, Sarah J, Napolioni, Valerio, He, Zihuai, Mormino, Elizabeth C., Greicius, Michael D

“…Background We sought to identify genetic variants that confer resilience to age‐related Alzheimer’s disease (AD) risk in subjects of admixed African ancestry…”
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Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease by Le Guen, Yann, Belloy, Michael E, Grenier-Boley, Benjamin, de Rojas, Itziar, Castillo-Morales, Atahualpa, Jansen, Iris, Nicolas, Aude, Bellenguez, Céline, Dalmasso, Carolina, Küçükali, Fahri, Eger, Sarah J, Rasmussen, Katrine Laura, Thomassen, Jesper Qvist, Deleuze, Jean-François, He, Zihuai, Napolioni, Valerio, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick G, van Duijn, Cornelia, Tsolaki, Magda, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Rossi, Giacomina, Hiltunen, Mikko, Sims, Rebecca, van der Flier, Wiesje M, Ramirez, Alfredo, Andreassen, Ole A, Frikke-Schmidt, Ruth, Williams, Julie, Ruiz, Agustín, Lambert, Jean-Charles, Greicius, Michael D, Arosio, Beatrice, Benussi, Luisa, Boland, Anne, Borroni, Barbara, Caffarra, Paolo, Daian, Delphine, Daniele, Antonio, Debette, Stéphanie, Dufouil, Carole, Düzel, Emrah, Galimberti, Daniela, Giedraitis, Vilmantas, Grimmer, Timo, Graff, Caroline, Grünblatt, Edna, Hanon, Olivier, Hausner, Lucrezia, Heilmann-Heimbach, Stefanie, Holstege, Henne, Hort, Jakub, Jürgen, Deckert, Kuulasmaa, Teemu, van der Lugt, Aad, Masullo, Carlo, Mecocci, Patrizia, Mehrabian, Shima, de Mendonça, Alexandre, Moebus, Susanne, Nacmias, Benedetta, Nicolas, Gael, Olaso, Robert, Papenberg, Goran, Parnetti, Lucilla, Pasquier, Florence, Peters, Oliver, Pijnenburg, Yolande A L, Popp, Julius, Rainero, Innocenzo, Ramakers, Inez, Riedel-Heller, Steffi, Scarmeas, Nikolaos, Scheltens, Philip, Scherbaum, Norbert, Schneider, Anja, Seripa, Davide, Soininen, Hilkka, Solfrizzi, Vincenzo, Spalletta, Gianfranco, Squassina, Alessio, van Swieten, John, Tegos, Thomas J, Tremolizzo, Lucio, Verhey, Frans, Vyhnalek, Martin, Wiltfang, Jens, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Real, Luis M, Álvarez, Victoria, Bullido, María J, Clarimon, Jordi, García-Alberca, José María, Mir, Pablo, Moreno, Fermin

“…The APOE ε2 and APOE ε4 alleles are the strongest protective and risk-increasing, respectively, genetic variants for late-onset Alzheimer disease (AD)…”
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Two APOE splice sQTLs reduce Alzheimer’s disease risk in APOE 4/4 carriers: Genetics/genetic factors of Alzheimer's disease by Belloy, Michael E., Eger, Sarah J., Guen, Yann Le, Napolioni, Valerio, Greicius, Michael D.

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Two APOE splice sQTLs reduce Alzheimer’s disease risk in APOE 4/4 carriers by Belloy, Michael E., Eger, Sarah J., Guen, Yann Le, Napolioni, Valerio, Greicius, Michael D.

“…Background Are there genetic variants in the APOE locus that alter APOE4‐related risk for AD? Do these putative variants exert their effect through altering…”
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APOE missense variant R145C is associated with increased Alzheimer's disease risk in African ancestry individuals with the APOE 3/4 genotype by Guen, Yann Le, Belloy, Michael E, Eger, Sarah J, Chen, Annabel, Kennedy, Gabriel, Thornton, Timothy A, Farrer, Lindsay A., Napolioni, Valerio, He, Zihuai, Greicius, Michael D

“…Background The APOE gene has two common missense variants that greatly impact the risk of late‐onset Alzheimer's disease (AD). Here we examined the risk of a…”
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Charting the genetic architecture of Alzheimer’s disease across APOE4 and sex by Belloy, Michael E, García‐González, Pablo, Castillo, Atahualpa, Guen, Yann Le, Kasireddy, Nandita, Stewart, Ilaria, Eger, Sarah J, Young, Christina B., Mormino, Elizabeth C., Napolioni, Valerio, He, Zihuai, Altmann, Andre, Greicius, Michael D

“…Background APOE*4 status and sex (and their interaction) are among the strongest risk factors for late‐onset Alzheimer’s disease (AD). We thus sought to…”
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Klotho‐VS decreases probability of amyloid pet positivity in APOE4+ controls: Genetics/genetic factors of Alzheimer's disease by Eger, Sarah J., Belloy, Michael E., Guen, Yann Le, Napolioni, Valerio, Deters, Kacie D., Mormino, Elizabeth C., Greicius, Michael D.

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Klotho‐VS decreases probability of amyloid pet positivity in APOE4+ controls by Eger, Sarah J., Belloy, Michael E., Guen, Yann Le, Napolioni, Valerio, Deters, Kacie D., Mormino, Elizabeth C., Greicius, Michael D.

“…Background Klotho‐VS heterozygosity (KL‐VSHET) has been linked to increased longevity and decreased rate of cognitive decline. In Alzheimer’s disease (AD),…”
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RPS16 and NOL6 splice region variants are associated with early onset Alzheimer's disease: Basic science and pathogenesis: Genetics and omics of AD by Guen, Yann Le, Napolioni, Valerio, Belloy, Michael E., Eger, Sarah J., Kennedy, Gabriel, Morgan, Kevin, Greicius, Michael D.

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