Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: ABCA7: L620P

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

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Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.

Scientific Reports

Wightman, Douglas P DP; Savage, Jeanne E JE; de Leeuw, Christiaan A CA; Jansen, Iris E IE; Posthuma, Danielle D

Publication Date: 2023-02-07

Variant appearance in text: ABCA7: 1859T>C; L620P; rs144852598

PubMed Link: 36750708

Variant Present in the following documents:

• 41598_2023_29108_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion.

Acta Neuropathologica Communications

Bossaerts, Liene L; Hendrickx Van de Craen, Elisabeth E; Cacace, Rita R; Asselbergh, Bob B; Van Broeckhoven, Christine C

Publication Date: 2022-03-31

Variant appearance in text: ABCA7: L620P

PubMed Link: 35361255

Variant Present in the following documents:

• Main text
• 40478_2022_Article_1346.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ABCA7: L620P; rs144852598

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports

Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C

Publication Date: 2020-04-28

Variant appearance in text: ABCA7: 1859T>C; L620P; rs144852598

PubMed Link: 32345996

Variant Present in the following documents:

• 41598_2020_63183_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: ABCA7: L620P

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 14

View BVdb publication page

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Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.

Acta Neuropathologica

De Roeck, Arne A; Van den Bossche, Tobi T; van der Zee, Julie J; Verheijen, Jan J; De Coster, Wouter W; Van Dongen, Jasper J; Dillen, Lubina L; Baradaran-Heravi, Yalda Y; Heeman, Bavo B; Sanchez-Valle, Raquel R; Lladó, Albert A; Nacmias, Benedetta B; Sorbi, Sandro S; Gelpi, Ellen E; Grau-Rivera, Oriol O; Gómez-Tortosa, Estrella E; Pastor, Pau P; Ortega-Cubero, Sara S; Pastor, Maria A MA; Graff, Caroline C; Thonberg, Håkan H; Benussi, Luisa L; Ghidoni, Roberta R; Binetti, Giuliano G; de Mendonça, Alexandre A; Martins, Madalena M; Borroni, Barbara B; Padovani, Alessandro A; Almeida, Maria Rosário MR; Santana, Isabel I; Diehl-Schmid, Janine J; Alexopoulos, Panagiotis P; Clarimon, Jordi J; Lleó, Alberto A; Fortea, Juan J; Tsolaki, Magda M; Koutroumani, Maria M; Matěj, Radoslav R; Rohan, Zdenek Z; De Deyn, Peter P; Engelborghs, Sebastiaan S; Cras, Patrick P; Van Broeckhoven, Christine C; Sleegers, Kristel K; ,

Publication Date: 2017-09

Variant appearance in text: ABCA7: 1859T>C; Leu620Pro

PubMed Link: 28447221

Variant Present in the following documents:

• 401_2017_1714_MOESM1_ESM.pdf

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Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants.

Neurology. Genetics

Nuytemans, Karen K; Maldonado, Lizmarie L; Ali, Aleena A; John-Williams, Krista K; Beecham, Gary W GW; Martin, Eden E; Scott, William K WK; Vance, Jeffery M JM

Publication Date: 2016-02

Variant appearance in text: ABCA7: L620P

PubMed Link: 27066581

Variant Present in the following documents:

• NG2015001263.pdf

View BVdb publication page

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