Publications:

---

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: 2639G>A; R880Q; rs143718918

PubMed Link: 36750708

Variant Present in the following documents:

• 41598_2023_29108_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

---

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: ABCA7: 2639G>A; Arg880Gln

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

---

The role of ATP-binding cassette subfamily A in the etiology of Alzheimer's disease.

Molecular Neurodegeneration

Bossaerts, Liene L; Cacace, Rita R; Van Broeckhoven, Christine C

Publication Date: 2022-04-27

Variant appearance in text: ABCA7: R880Q

PubMed Link: 35477481

Variant Present in the following documents:

• Main text
• 13024_2022_Article_536.pdf

View BVdb publication page

---

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: R880Q

PubMed Link: 35361255

Variant Present in the following documents:

• Main text
• 40478_2022_Article_1346.pdf

View BVdb publication page

---

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: R880Q; rs143718918

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics.

Acta Neuropathologica

De Roeck, Arne A; Van Broeckhoven, Christine C; Sleegers, Kristel K

Publication Date: 2019-08

Variant appearance in text: ABCA7: Arg880Gln; rs143718918

PubMed Link: 30903345

Variant Present in the following documents:

• Main text
• 401_2019_Article_1994.pdf

View BVdb publication page

---

Rare ABCA7 variants in 2 German families with Alzheimer disease.

Neurology. Genetics

May, Patrick P; Pichler, Sabrina S; Hartl, Daniela D; Bobbili, Dheeraj R DR; Mayhaus, Manuel M; Spaniol, Christian C; Kurz, Alexander A; Balling, Rudi R; Schneider, Jochen G JG; Riemenschneider, Matthias M

Publication Date: 2018-04

Variant appearance in text: ABCA7: R880Q; rs143718918

PubMed Link: 29577078

Variant Present in the following documents:

• Main text
• NG2017006353.pdf

View BVdb publication page

---

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: ABCA7: R880Q; rs143718918

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

---

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: 2639G>A; Arg880Gln

PubMed Link: 28447221

Variant Present in the following documents:

• 401_2017_1714_MOESM1_ESM.pdf

View BVdb publication page

---

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: R880Q

PubMed Link: 27066581

Variant Present in the following documents:

• Main text
• NG2015001263.pdf

View BVdb publication page

---

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.

Annals Of Neurology

Vardarajan, Badri N BN; Ghani, Mahdi M; Kahn, Amanda A; Sheikh, Stephanie S; Sato, Christine C; Barral, Sandra S; Lee, Joseph H JH; Cheng, Rong R; Reitz, Christiane C; Lantigua, Rafael R; Reyes-Dumeyer, Dolly D; Medrano, Martin M; Jimenez-Velazquez, Ivonne Z IZ; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Mayeux, Richard R

Publication Date: 2015-09

Variant appearance in text: ABCA7: R880Q; rs143718918

PubMed Link: 26101835

Variant Present in the following documents:

• Main text
• ANA-78-487.pdf

View BVdb publication page

---