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RNA‐seq study on the effect of MAPT rs242557 deletion in HMC3 cells.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.076530
By:
- Das, Rueben;
- Kuska, Pavel P.;
- Lee, Wan‐Ping;
- Choi, Eirene;
- Jiang, Ming;
- Dombroski, Beth A.;
- Schellenberg, Gerald D.
Publication type:
Article
RNA‐seq study on the effect of MAPT rs242557 deletion in HMC3 cells.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.076530
By:
- Das, Rueben;
- Kuska, Pavel P.;
- Lee, Wan‐Ping;
- Choi, Eirene;
- Jiang, Ming;
- Dombroski, Beth A.;
- Schellenberg, Gerald D.
Publication type:
Article
Is rs242561 a regulator of tau expression in adult mice?
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 3, p. 1, doi. 10.1002/alz.065605
By:
- DAS, Rueben G;
- Choi, Eirene;
- Sgourdou, Paraskevi;
- Bernard, Tia;
- Dombroski, Beth A.;
- Schellenberg, Gerard D.
Publication type:
Article
MAPT enhancer containing rs242557 regulates multiple neighboring genes in human microglial cell line.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 3, p. 1, doi. 10.1002/alz.052360
By:
- Das, Rueben G;
- Choi, Eirene;
- Jiang, Ming;
- Dombroski, Beth A.;
- Schellenberg, Gerard D.
Publication type:
Article
P2‐132: EXPRESSION STUDY ON THE EFFECT OF DELETING A MAPT ENHANCER CONTAINING RS242557 IN MICE BRAIN.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P623, doi. 10.1016/j.jalz.2019.06.2539
By:
- Das, Rueben G.;
- Dombroski, Beth A.;
- Bernard, Tia;
- Schellenberg, Gerard D.
Publication type:
Article
P1‐145: INFERRING THE MOLECULAR MECHANISMS OF NONCODING AD‐ASSOCIATED GENETIC VARIANTS.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P331, doi. 10.1016/j.jalz.2018.06.148
By:
- Amlie-Wolf, Alexandre;
- Tang, Mitchell;
- Dombroski, Beth A.;
- Way, Jessica;
- Vrettos, Nikolaos;
- Chou, Yi-Fan;
- Mlynarski, Elizabeth E.;
- Brown, Christopher D.;
- Schellenberg, Gerard;
- Wang, Li-San
Publication type:
Article
COMPUTATIONAL IDENTIFICATION OF REGULATORY MECHANISMS AFFECTED BY NONCODING VARIANTS ASSOCIATED WITH LATE-ONSET ALZHEIMER'S DISEASE.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P640, doi. 10.1016/j.jalz.2016.06.1288
By:
- Amlie-Wolf, Alexandre;
- Tang, Mitchell;
- King, Jessica;
- Dombroski, Beth A.;
- Wang, Li-San;
- Schellenberg, Gerard D.
Publication type:
Article
Low-frequency variant imputation identifies rare variant candidate loci in a gwas of late-onset Alzheimer’s disease in the igap consortium.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P333, doi. 10.1016/j.jalz.2015.08.158
By:
- Kunkle, Brian W.;
- Grenier-Boley, Benjamin;
- Vronskaya, Maria;
- Chouraki, Vincent;
- van der Lee, Sven J.;
- Hamilton-Nelson, Kara L.;
- Toeglhofer, A.M.;
- Sims, Rebecca;
- Jakobsdottir, Johanna;
- Bis, Joshua C.;
- Dombroski, Beth A.;
- Martin, Eden R.;
- Mayeux, Richard;
- Farrer, Lindsay A.;
- van Duijn, Cornelia M.;
- Haines, Jonathan L.;
- Williams, Julie;
- Seshadri, Sudha;
- Amouyel, Philippe;
- Schellenberg, Gerard D.
Publication type:
Article
Prediction of late-onset Alzheimer’s disease-associated enhancer elements.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P336, doi. 10.1016/j.jalz.2015.06.197
By:
- Tang, Mitchell;
- Kramer, Christian;
- Xu, George;
- Hawk, Michele;
- Hwang, Yih-Chii;
- Lin, Chiao-Feng;
- Kuksa, Pavel;
- Wang, Weixin;
- Dombroski, Beth A.;
- Naj, Adam C.;
- Wang, Li-San;
- Schellenberg, Gerald D.
Publication type:
Article
ABCA7 deletion associated with Alzheimer's disease in african americans.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P485, doi. 10.1016/j.jalz.2015.06.549
By:
- Cukier, Holly N.;
- Kunkle, Brian W.;
- Rolati, Sophie;
- Hamilton-Nelson, Kara L.;
- Kohli, Martin A.;
- Dombroski, Beth A.;
- Vardarajan, Badri N.;
- Whitehead, Patrice L.;
- Van Booven, Derek J.;
- Martin, Eden R.;
- Beecham, Gary W.;
- Farrer, Lindsay A.;
- Cuccaro, Michael L.;
- Vance, Jeffery M.;
- Mayeux, Richard;
- Gilbert, John R.;
- Carney, Regina M.;
- Byrd, Goldie S.;
- Haines, Jonathan L.;
- Schellenberg, Gerald D.
Publication type:
Article
ZINC-FINGER nuclease-induced targeted deletion reveals existence of an enhancer element within the microtubule-associated protein tau (MAPT) gene.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2014, v. 10, p. P788, doi. 10.1016/j.jalz.2014.05.1527
By:
- Sud, Reeteka;
- Dombroski, Beth;
- Vrettos, Nicholas;
- Schellenberg, Gerard D.
Publication type:
Article
Duplications in chr15q11 are associated with late-onset Alzheimer's disease in the Caucasian population
Published in:
2012
By:
- Lin, Chiao-Feng;
- Valladares, Otto;
- Dombroski, Beth;
- Wang, Li-San;
- Schellenberg, Gerard
Publication type:
Abstract
High copy wildtype human 1N4R tau expression promotes early pathological tauopathy accompanied by cognitive deficits without progressive neurofibrillary degeneration.
Published in:
Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0210-6
By:
- Wheeler, Jeanna M.;
- McMillan, Pamela J.;
- Hawk, Michele;
- Iba, Michiyo;
- Robinson, Linda;
- Xu, George J.;
- Dombroski, Beth A.;
- Doori Jeong;
- Dichter, Marc A.;
- Halvor Juul;
- Loomis, Elaine;
- Raskind, Murray;
- Leverenz, James B.;
- Trojanowski, John Q.;
- Lee, Virginia M. Y.;
- Schellenberg, Gerard D.;
- Kraemer, Brian C.
Publication type:
Article
A comparative study of structural variant calling in WGS from Alzheimer's disease families.
Published in:
Life Science Alliance, 2024, v. 7, n. 5, p. 1, doi. 10.26508/lsa.202302181
By:
- Malamon, John S.;
- Farrell, John J.;
- Li Charlie Xia;
- Dombroski, Beth A.;
- Das, Rueben G.;
- Way, Jessica;
- Kuzma, Amanda B.;
- Valladares, Otto;
- Yuk Yee Leung;
- Scanlon, Allison J.;
- Lopez, Irving Antonio Barrera;
- Brehony, Jack;
- Worley, Kim C.;
- Zhang, Nancy R.;
- Li-San Wang;
- Farrer, Lindsay A.;
- Schellenberg, Gerard D.;
- Wan-Ping Lee;
- Vardarajan, Badri N.
Publication type:
Article
C9orf72 Hexanucleotide Repeat Expansion and Guam Amyotrophic Lateral Sclerosis--Parkinsonism-Dementia Complex.
Published in:
JAMA Neurology, 2013, v. 70, n. 6, p. 742, doi. 10.1001/jamaneurol.2013.1817
By:
- Dombroski, Beth A.;
- Galasko, Douglas R.;
- Mata, Ignacio F.;
- Zabetian, Cyrus P.;
- Craig, Ulla-Katrina;
- Garruto, Ralph M.;
- Kiyomitsu Oyanagi;
- Schellenberg, Gerard D.
Publication type:
Article
Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.
Published in:
Nature Communications, 2015, v. 6, n. 6, p. 7247, doi. 10.1038/ncomms8247
By:
- Kouri, Naomi;
- Ross, Owen A.;
- Dombroski, Beth;
- Younkin, Curtis S.;
- Serie, Daniel J.;
- Soto-Ortolaza, Alexandra;
- Baker, Matthew;
- Finch, Ni Cole A.;
- Yoon, Hyejin;
- Kim, Jungsu;
- Fujioka, Shinsuke;
- McLean, Catriona A.;
- Ghetti, Bernardino;
- Spina, Salvatore;
- Cantwell, Laura B.;
- Farlow, Martin R.;
- Grafman, Jordan;
- Huey, Edward D.;
- Ryung Han, Mi;
- Beecher, Sherry
Publication type:
Article
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 15, p. 3500, doi. 10.1093/hmg/dds161
By:
- Coppola, Giovanni;
- Chinnathambi, Subashchandrabose;
- Lee, Jason JiYong;
- Dombroski, Beth A.;
- Baker, Matt C.;
- Soto-Ortolaza, Alexandra I.;
- Lee, Suzee E.;
- Klein, Eric;
- Huang, Alden Y.;
- Sears, Renee;
- Lane, Jessica R.;
- Karydas, Anna M.;
- Kenet, Robert O.;
- Biernat, Jacek;
- Wang, Li-San;
- Cotman, Carl W.;
- DeCarli, Charles S.;
- Levey, Allan I.;
- Ringman, John M.;
- Mendez, Mario F.
Publication type:
Article
Genetic Variations in EIF2AK3 are Associated with Neurocognitive Impairment in People Living with HIV.
Published in:
Journal of NeuroImmune Pharmacology, 2024, v. 19, n. 1, p. 1, doi. 10.1007/s11481-024-10125-x
By:
- Akay-Espinoza, Cagla;
- Newton, Sarah E.B.;
- Dombroski, Beth A.;
- Kallianpur, Asha;
- Bharti, Ajay;
- Franklin, Donald R.;
- Schellenberg, Gerard D.;
- Heaton, Robert K.;
- Grant, Igor;
- Ellis, Ronald J.;
- Letendre, Scott L.;
- Jordan-Sciutto, Kelly L.
Publication type:
Article
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.
Published in:
Molecular Neurodegeneration, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13024-024-00763-3
By:
- Wang, Hui;
- Chang, Timothy S.;
- Dombroski, Beth A.;
- Cheng, Po-Liang;
- Patil, Vishakha;
- Valiente-Banuet, Leopoldo;
- Farrell, Kurt;
- Mclean, Catriona;
- Molina-Porcel, Laura;
- Rajput, Alex;
- De Deyn, Peter Paul;
- Le Bastard, Nathalie;
- Gearing, Marla;
- Kaat, Laura Donker;
- Van Swieten, John C.;
- Dopper, Elise;
- Ghetti, Bernardino F.;
- Newell, Kathy L.;
- Troakes, Claire;
- de Yébenes, Justo G.
Publication type:
Article
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.
Published in:
Molecular Neurodegeneration, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13024-024-00747-3
By:
- Wang, Hui;
- Chang, Timothy S.;
- Dombroski, Beth A.;
- Cheng, Po-Liang;
- Patil, Vishakha;
- Valiente-Banuet, Leopoldo;
- Farrell, Kurt;
- Mclean, Catriona;
- Molina-Porcel, Laura;
- Rajput, Alex;
- De Deyn, Peter Paul;
- Le Bastard, Nathalie;
- Gearing, Marla;
- Kaat, Laura Donker;
- Van Swieten, John C.;
- Dopper, Elise;
- Ghetti, Bernardino F.;
- Newell, Kathy L.;
- Troakes, Claire;
- de Yébenes, Justo G.
Publication type:
Article
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21.
Published in:
Nature Genetics, 1998, v. 20, n. 1, p. 70, doi. 10.1038/1734
By:
- Blouin, Jean-Louis;
- Dombroski, Beth A.;
- Nath, Swapan K.;
- Lasseter, Virginia K.;
- Wolyniec, Paula S.;
- Nestadt, Gerald;
- Thornquist, Mary;
- Ullrich, Gail;
- McGrath, John;
- Kasch, Laura;
- Lamacz, Malgorzata;
- Thomas, Marion G.;
- Gehrig, Corinne;
- Radhakrishna, Uppala;
- Snyder, Sarah E.;
- Balk, Katherine G.;
- Neufeld, Karin;
- Swartz, Karen L.;
- DeMarchi, Nicola
Publication type:
Article

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