Publications:

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Phospholipase D3 degrades mitochondrial DNA to regulate nucleotide signaling and APP metabolism.

Nature Communications

Van Acker, Zoë P ZP; Perdok, Anika A; Hellemans, Ruben R; North, Katherine K; Vorsters, Inge I; Cappel, Cedric C; Dehairs, Jonas J; Swinnen, Johannes V JV; Sannerud, Ragna R; Bretou, Marine M; Damme, Markus M; Annaert, Wim W

Publication Date: 2023-05-24

Variant appearance in text: PLD3: V232M

PubMed Link: 37225734

Variant Present in the following documents:

• Main text
• 41467_2023_Article_38501.pdf
• 41467_2023_38501_MOESM1_ESM.pdf

View BVdb publication page

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RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Embo Molecular Medicine

Wong, Samantha S; Tan, Yu Xuan YX; Loh, Abigail Yi Ting AYT; Tan, Kiat Yi KY; Lee, Hane H; Aziz, Zainab Z; Nelson, Stanley F SF; Özkan, Engin E; Kayserili, Hülya H; Escande-Beillard, Nathalie N; Reversade, Bruno B

Publication Date: 2023-04-17

Variant appearance in text: PLD3: 694G>A; Val232Met

PubMed Link: 37066513

Variant Present in the following documents:

• EMMM-15-e17078-s005.xlsx, sheet 5

View BVdb publication page

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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: PLD3: V232M

PubMed Link: 36928921

Variant Present in the following documents:

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

View BVdb publication page

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PLD3 affects axonal spheroids and network defects in Alzheimer's disease.

Nature

Yuan, Peng P; Zhang, Mengyang M; Tong, Lei L; Morse, Thomas M TM; McDougal, Robert A RA; Ding, Hui H; Chan, Diane D; Cai, Yifei Y; Grutzendler, Jaime J

Publication Date: 2022-12

Variant appearance in text: PLD3: V232M

PubMed Link: 36450991

Variant Present in the following documents:

• Main text
• 41586_2022_5491_MOESM3_ESM.pdf
• 41586_2022_Article_5491.pdf

View BVdb publication page

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Genetics of Alzheimer's disease: an East Asian perspective.

Journal Of Human Genetics

Miyashita, Akinori A; Kikuchi, Masataka M; Hara, Norikazu N; Ikeuchi, Takeshi T

Publication Date: 2022-06-01

Variant appearance in text: rs145999145

PubMed Link: 35641666

Variant Present in the following documents:

• Main text
• 10038_2022_Article_1050.pdf

View BVdb publication page

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The amyloid plaque proteome in early onset Alzheimer's disease and Down syndrome.

Acta Neuropathologica Communications

Drummond, Eleanor E; Kavanagh, Tomas T; Pires, Geoffrey G; Marta-Ariza, Mitchell M; Kanshin, Evgeny E; Nayak, Shruti S; Faustin, Arline A; Berdah, Valentin V; Ueberheide, Beatrix B; Wisniewski, Thomas T

Publication Date: 2022-04-13

Variant appearance in text: PLD3: V232M

PubMed Link: 35418158

Variant Present in the following documents:

• 40478_2022_Article_1356.pdf

View BVdb publication page

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Glycomic and Glycoproteomic Techniques in Neurodegenerative Disorders and Neurotrauma: Towards Personalized Markers.

Cells

Kobeissy, Firas F; Kobaisi, Abir A; Peng, Wenjing W; Barsa, Chloe C; Goli, Mona M; Sibahi, Ahmad A; El Hayek, Samer S; Abdelhady, Samar S; Ali Haidar, Muhammad M; Sabra, Mirna M; Orešič, Matej M; Logroscino, Giancarlo G; Mondello, Stefania S; Eid, Ali H AH; Mechref, Yehia Y

Publication Date: 2022-02-08

Variant appearance in text: PLD3: Val232Met

PubMed Link: 35159390

Variant Present in the following documents:

• Main text
• cells-11-00581.pdf

View BVdb publication page

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Glycomic and Glycoproteomic Techniques in Neurodegenerative Disorders and Neurotrauma: Towards Personalized Markers.

Cells

Kobeissy, Firas F; Kobaisi, Abir A; Peng, Wenjing W; Barsa, Chloe C; Goli, Mona M; Sibahi, Ahmad A; El Hayek, Samer S; Abdelhady, Samar S; Ali Haidar, Muhammad M; Sabra, Mirna M; Orešič, Matej M; Logroscino, Giancarlo G; Mondello, Stefania S; Eid, Ali H AH; Mechref, Yehia Y

Publication Date: 2022-02-08

Variant appearance in text: PLD3: Val232Met

PubMed Link: 35159390

Variant Present in the following documents:

• Main text
• cells-11-00581.pdf

View BVdb publication page

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Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Molecular Neurodegeneration

Khani, Marzieh M; Gibbons, Elizabeth E; Bras, Jose J; Guerreiro, Rita R

Publication Date: 2022-01-09

Variant appearance in text: PLD3: Val232Met

PubMed Link: 35000612

Variant Present in the following documents:

• Main text
• 13024_2021_Article_505.pdf

View BVdb publication page

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Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Molecular Neurodegeneration

Khani, Marzieh M; Gibbons, Elizabeth E; Bras, Jose J; Guerreiro, Rita R

Publication Date: 2022-01-09

Variant appearance in text: PLD3: Val232Met

PubMed Link: 35000612

Variant Present in the following documents:

• Main text
• 13024_2021_Article_505.pdf

View BVdb publication page

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Genetically regulated expression in late-onset Alzheimer's disease implicates risk genes within known and novel loci.

Translational Psychiatry

Chen, Hung-Hsin HH; Petty, Lauren E LE; Sha, Jin J; Zhao, Yi Y; Kuzma, Amanda A; Valladares, Otto O; , ; Bush, William W; Naj, Adam C AC; Gamazon, Eric R ER; Below, Jennifer E JE

Publication Date: 2021-12-06

Variant appearance in text: rs145999145

PubMed Link: 34873149

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetically regulated expression in late-onset Alzheimer's disease implicates risk genes within known and novel loci.

Translational Psychiatry

Chen, Hung-Hsin HH; Petty, Lauren E LE; Sha, Jin J; Zhao, Yi Y; Kuzma, Amanda A; Valladares, Otto O; , ; Bush, William W; Naj, Adam C AC; Gamazon, Eric R ER; Below, Jennifer E JE

Publication Date: 2021-12-06

Variant appearance in text: rs145999145

PubMed Link: 34873149

Variant Present in the following documents:

• Main text

View BVdb publication page

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Loss of zinc-finger protein 212 leads to Purkinje cell death and locomotive abnormalities with phospholipase D3 downregulation.

Scientific Reports

Khang, Rin R; Jo, Areum A; Kang, Hojin H; Kim, Hanna H; Kwag, Eunsang E; Lee, Ji-Yeong JY; Koo, Okjae O; Park, Jinsu J; Kim, Hark Kyun HK; Jo, Dong-Gyu DG; Hwang, Inwoo I; Ahn, Jee-Yin JY; Lee, Yunjong Y; Choi, Jeong-Yun JY; Lee, Yun-Song YS; Shin, Joo-Ho JH

Publication Date: 2021-11-23

Variant appearance in text: PLD3: Val232Met

PubMed Link: 34815492

Variant Present in the following documents:

• Main text
• 41598_2021_Article_2218.pdf

View BVdb publication page

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Cleavage of DNA and RNA by PLD3 and PLD4 limits autoinflammatory triggering by multiple sensors.

Nature Communications

Gavin, Amanda L AL; Huang, Deli D; Blane, Tanya R TR; Thinnes, Therese C TC; Murakami, Yusuke Y; Fukui, Ryutaro R; Miyake, Kensuke K; Nemazee, David D

Publication Date: 2021-10-07

Variant appearance in text: PLD3: V232M

PubMed Link: 34620855

Variant Present in the following documents:

• 41467_2021_Article_26150.pdf

View BVdb publication page

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Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome.

Frontiers In Aging Neuroscience

Liu, Yi-Hui YH; Zhang, Hai-Feng HF; Jin, Jie-Yuan JY; Wei, Yan-Qiu YQ; Wang, Chen-Yu CY; Fan, Liang-Liang LL; Liu, Lv L

Publication Date: 2021

Variant appearance in text: PLD3: V232M

PubMed Link: 34267643

Variant Present in the following documents:

• fnagi-13-671296.pdf

View BVdb publication page

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PLD3 is a neuronal lysosomal phospholipase D associated with β-amyloid plaques and cognitive function in Alzheimer's disease.

Plos Genetics

Nackenoff, Alex G AG; Hohman, Timothy J TJ; Neuner, Sarah M SM; Akers, Carolyn S CS; Weitzel, Nicole C NC; Shostak, Alena A; Ferguson, Shawn M SM; Mobley, Bret B; Bennett, David A DA; Schneider, Julie A JA; Jefferson, Angela L AL; Kaczorowski, Catherine C CC; Schrag, Matthew S MS

Publication Date: 2021-04

Variant appearance in text: PLD3: V232M

PubMed Link: 33830999

Variant Present in the following documents:

• Main text
• pgen.1009406.s002.xlsx, sheet 1
• pgen.1009406.pdf

View BVdb publication page

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Quantification and characterization of the 5' exonuclease activity of the lysosomal nuclease PLD3 by a novel cell-based assay.

The Journal Of Biological Chemistry

Cappel, Cedric C; Gonzalez, Adriana Carolina AC; Damme, Markus M

Publication Date: 2021

Variant appearance in text: PLD3: V232M

PubMed Link: 33288674

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Association of rare variants in neurodegenerative genes with familial Alzheimer's disease.

Annals Of Clinical And Translational Neurology

Zhang, Weiwei W; Jiao, Bin B; Xiao, Tingting T; Liu, Xixi X; Liao, Xinxin X; Xiao, Xuewen X; Guo, Lina L; Yuan, Zhenhua Z; Yan, Xinxiang X; Tang, Beisha B; Shen, Lu L

Publication Date: 2020-10

Variant appearance in text: PLD3: V232M

PubMed Link: 32941707

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Other Side of Alzheimer's Disease: Influence of Metabolic Disorder Features for Novel Diagnostic Biomarkers.

Journal Of Personalized Medicine

Argentati, Chiara C; Tortorella, Ilaria I; Bazzucchi, Martina M; Emiliani, Carla C; Morena, Francesco F; Martino, Sabata S

Publication Date: 2020-09-06

Variant appearance in text: rs145999145

PubMed Link: 32899957

Variant Present in the following documents:

• Main text
• jpm-10-00115.pdf

View BVdb publication page

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Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.

Cold Spring Harbor Molecular Case Studies

Cochran, J Nicholas JN; McKinley, Emily C EC; Cochran, Meagan M; Amaral, Michelle D MD; Moyers, Bryan A BA; Lasseigne, Brittany N BN; Gray, David E DE; Lawlor, James M J JMJ; Prokop, Jeremy W JW; Geier, Ethan G EG; Holt, James M JM; Thompson, Michelle L ML; Newberry, J Scott JS; Yokoyama, Jennifer S JS; Worthey, Elizabeth A EA; Geldmacher, David S DS; Love, Marissa Natelson MN; Cooper, Gregory M GM; Myers, Richard M RM; Roberson, Erik D ED

Publication Date: 2019-12

Variant appearance in text: PLD3: 694G>A; Val232Met; rs145999145

PubMed Link: 31836585

Variant Present in the following documents:

• Main text
• supp_mcs.a003491_Supplemental_Table_1.xlsx, sheet 1
• supp_mcs.a003491_Supplemental_Material.pdf
• MCS003491Coc.pdf

View BVdb publication page

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Association of Acquired and Heritable Factors With Intergenerational Differences in Age at Symptomatic Onset of Alzheimer Disease Between Offspring and Parents With Dementia.

Jama Network Open

Day, Gregory S GS; Cruchaga, Carlos C; Wingo, Thomas T; Schindler, Suzanne E SE; Coble, Dean D; Morris, John C JC

Publication Date: 2019-10-02

Variant appearance in text: PLD3: Val232Met

PubMed Link: 31617930

Variant Present in the following documents:

• Main text

View BVdb publication page

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Complement C7 is a novel risk gene for Alzheimer's disease in Han Chinese.

National Science Review

Zhang, Deng-Feng DF; Fan, Yu Y; Xu, Min M; Wang, Guihong G; Wang, Dong D; Li, Jin J; Kong, Li-Li LL; Zhou, Hejiang H; Luo, Rongcan R; Bi, Rui R; Wu, Yong Y; Li, Guo-Dong GD; , ; Li, Ming M; Luo, Xiong-Jian XJ; Jiang, Hong-Yan HY; Tan, Liwen L; Zhong, Chunjiu C; Fang, Yiru Y; Zhang, Chen C; Sheng, Nengyin N; Jiang, Tianzi T; Yao, Yong-Gang YG

Publication Date: 2019-03

Variant appearance in text: PLD3: V232M

PubMed Link: 31032141

Variant Present in the following documents:

• Main text
• nwy127.pdf

View BVdb publication page

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PLD3 Rare Variants Identified in Late-Onset Alzheimer's Disease Affect Amyloid-β Levels in Cellular Model.

Frontiers In Neuroscience

Tan, Mengshan M; Li, Jieqiong J; Ma, Fangchen F; Zhang, Xing X; Zhao, Qingfei Q; Cao, Xipeng X

Publication Date: 2019

Variant appearance in text: PLD3: V232M

PubMed Link: 30837833

Variant Present in the following documents:

• Main text
• fnins-13-00116.pdf

View BVdb publication page

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Microglia in Alzheimer's Disease: Exploring How Genetics and Phenotype Influence Risk.

Journal Of Molecular Biology

McQuade, Amanda A; Blurton-Jones, Mathew M

Publication Date: 2019-04-19

Variant appearance in text: rs145999145

PubMed Link: 30738892

Variant Present in the following documents:

• Main text

View BVdb publication page

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A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Zhang, Xiaoling X; Zhu, Congcong C; Beecham, Gary G; Vardarajan, Badri N BN; Ma, Yiyi Y; Lancour, Daniel D; Farrell, John J JJ; Chung, Jaeyoon J; , ; Mayeux, Richard R; Haines, Jonathan L JL; Schellenberg, Gerard D GD; Pericak-Vance, Margaret A MA; Lunetta, Kathryn L KL; Farrer, Lindsay A LA

Publication Date: 2019-03

Variant appearance in text: PLD3: V232M

PubMed Link: 30503768

Variant Present in the following documents:

• Main text

View BVdb publication page

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PLD3 epigenetic changes in the hippocampus of Alzheimer's disease.

Clinical Epigenetics

Blanco-Luquin, Idoia I; Altuna, Miren M; Sánchez-Ruiz de Gordoa, Javier J; Urdánoz-Casado, Amaya A; Roldán, Miren M; Cámara, María M; Zelaya, Victoria V; Erro, María Elena ME; Echavarri, Carmen C; Mendioroz, Maite M

Publication Date: 2018-09-12

Variant appearance in text: PLD3: V232M; rs145999145

PubMed Link: 30208929

Variant Present in the following documents:

• Main text
• 13148_2018_Article_547.pdf

View BVdb publication page

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Genome-wide significant risk factors on chromosome 19 and the APOE locus.

Oncotarget

Moreno-Grau, Sonia S; Hernández, Isabel I; Heilmann-Heimbach, Stefanie S; Ruiz, Susana S; Rosende-Roca, Maitée M; Mauleón, Ana A; Vargas, Liliana L; Rodríguez-Gómez, Octavio O; Alegret, Montserrat M; Espinosa, Ana A; Ortega, Gemma G; Aguilera, Nuria N; Abdelnour, Carla C; Neuroimaging Initiative, Alzheimer's Disease AD; Gil, Silvia S; Maier, Wolfgang W; Sotolongo-Grau, Oscar O; Tárraga, Lluís L; Ramirez, Alfredo A; López-Arrrieta, Jesús J; Antúnez, Carmen C; Serrano-Ríos, Manuel M; Boada, Mercè M; Ruiz, Agustín A

Publication Date: 2018-05-15

Variant appearance in text: PLD3: V232M

PubMed Link: 29872490

Variant Present in the following documents:

• Main text
• oncotarget-09-24590.pdf

View BVdb publication page

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Whole-Exome Sequencing of an Exceptional Longevity Cohort.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences

Nygaard, Haakon B HB; Erson-Omay, E Zeynep EZ; Wu, Xiujuan X; Kent, Brianne A BA; Bernales, Cecily Q CQ; Evans, Daniel M DM; Farrer, Matthew J MJ; Vilariño-Güell, Carles C; Strittmatter, Stephen M SM

Publication Date: 2019-08-16

Variant appearance in text: PLD3: V232M; rs145999145

PubMed Link: 29750252

Variant Present in the following documents:

• Main text

View BVdb publication page

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The effect of rare variants in TREM2 and PLD3 on longitudinal cognitive function in the Wisconsin Registry for Alzheimer's Prevention.

Neurobiology Of Aging

Engelman, Corinne D CD; Darst, Burcu F BF; Bilgel, Murat M; Vasiljevic, Eva E; Koscik, Rebecca L RL; Jedynak, Bruno M BM; Johnson, Sterling C SC

Publication Date: 2018-06

Variant appearance in text: PLD3: V232M; rs145999145

PubMed Link: 29395285

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: PLD3: 694G>A; V232M; rs145999145

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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Genetic Biomarkers on Age-Related Cognitive Decline.

Frontiers In Psychiatry

Lin, Chieh-Hsin CH; Lin, Eugene E; Lane, Hsien-Yuan HY

Publication Date: 2017

Variant appearance in text: PLD3: Val232Met; rs145999145

PubMed Link: 29209239

Variant Present in the following documents:

• Main text

View BVdb publication page

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Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience.

Genome Medicine

Ridge, Perry G PG; Karch, Celeste M CM; Hsu, Simon S; Arano, Ivan I; Teerlink, Craig C CC; Ebbert, Mark T W MTW; Gonzalez Murcia, Josue D JD; Farnham, James M JM; Damato, Anna R AR; Allen, Mariet M; Wang, Xue X; Harari, Oscar O; Fernandez, Victoria M VM; Guerreiro, Rita R; Bras, Jose J; Hardy, John J; Munger, Ronald R; Norton, Maria M; Sassi, Celeste C; Singleton, Andrew A; Younkin, Steven G SG; Dickson, Dennis W DW; Golde, Todd E TE; Price, Nathan D ND; Ertekin-Taner, Nilüfer N; Cruchaga, Carlos C; Goate, Alison M AM; Corcoran, Christopher C; Tschanz, JoAnn J; Cannon-Albright, Lisa A LA; Kauwe, John S K JSK; ,

Publication Date: 2017-11-29

Variant appearance in text: PLD3: V232M

PubMed Link: 29183403

Variant Present in the following documents:

• Main text
• 13073_2017_Article_486.pdf

View BVdb publication page

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Untangling Genetic Risk for Alzheimer's Disease.

Biological Psychiatry

Pimenova, Anna A AA; Raj, Towfique T; Goate, Alison M AM

Publication Date: 2018-02-15

Variant appearance in text: PLD3: V232M; rs145999145

PubMed Link: 28666525

Variant Present in the following documents:

• Main text

View BVdb publication page

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Family studies to find rare high risk variants in migraine.

The Journal Of Headache And Pain

Hansen, Rikke Dyhr RD; Christensen, Anne Francke AF; Olesen, Jes J

Publication Date: 2017-12

Variant appearance in text: rs145999145

PubMed Link: 28255817

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association and interaction effects of Alzheimer's disease-associated genes and lifestyle on cognitive aging in older adults in a Taiwanese population.

Oncotarget

Lin, Eugene E; Tsai, Shih-Jen SJ; Kuo, Po-Hsiu PH; Liu, Yu-Li YL; Yang, Albert C AC; Kao, Chung-Feng CF

Publication Date: 2017-04-11

Variant appearance in text: PLD3: Val232Met; rs145999145

PubMed Link: 28199971

Variant Present in the following documents:

• Main text
• oncotarget-08-24077.pdf

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: PLD3: 694G>A; Val232Met

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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Genomic variants, genes, and pathways of Alzheimer's disease: An overview.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Naj, Adam C AC; Schellenberg, Gerard D GD; ,

Publication Date: 2017-01

Variant appearance in text: rs145999145

PubMed Link: 27943641

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Genetics of Neurodegenerative Dementias.

Cold Spring Harbor Perspectives In Biology

Hinz, Flora I FI; Geschwind, Daniel H DH

Publication Date: 2017-04-03

Variant appearance in text: PLD3: V232M

PubMed Link: 27940516

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: PLD3: 694G>A; V232M; rs145999145

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Modeling Alzheimer's Disease with Induced Pluripotent Stem Cells: Current Challenges and Future Concerns.

Stem Cells International

Zhang, Weiwei W; Jiao, Bin B; Zhou, Miaojin M; Zhou, Tao T; Shen, Lu L

Publication Date: 2016

Variant appearance in text: rs145999145

PubMed Link: 27313629

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genes associated with Alzheimer's disease: an overview and current status.

Clinical Interventions In Aging

Giri, Mohan M; Zhang, Man M; Lü, Yang Y

Publication Date: 2016

Variant appearance in text: PLD3: V232M; rs145999145

PubMed Link: 27274215

Variant Present in the following documents:

• Main text

View BVdb publication page

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Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.

Human Molecular Genetics

Freudenberg-Hua, Yun Y; Li, Wentian W; Abhyankar, Avinash A; Vacic, Vladimir V; Cortes, Vanessa V; Ben-Avraham, Danny D; Koppel, Jeremy J; Greenwald, Blaine B; Germer, Soren S; , ; Darnell, Robert B RB; Barzilai, Nir N; Freudenberg, Jan J; Atzmon, Gil G; Davies, Peter P

Publication Date: 2016-07-15

Variant appearance in text: PLD3: V232M

PubMed Link: 27260402

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-Genome Sequencing of a Healthy Aging Cohort.

Cell

Erikson, Galina A GA; Bodian, Dale L DL; Rueda, Manuel M; Molparia, Bhuvan B; Scott, Erick R ER; Scott-Van Zeeland, Ashley A AA; Topol, Sarah E SE; Wineinger, Nathan E NE; Niederhuber, John E JE; Topol, Eric J EJ; Torkamani, Ali A

Publication Date: 2016-05-05

Variant appearance in text: rs145999145

PubMed Link: 27114037

Variant Present in the following documents:

• Main text

View BVdb publication page

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Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer's disease.

Human Genome Variation

Schulte, Eva C EC; Kurz, Alexander A; Alexopoulos, Panagiotis P; Hampel, Harald H; Peters, Annette A; Gieger, Christian C; Rujescu, Dan D; Diehl-Schmid, Janine J; Winkelmann, Juliane J

Publication Date: 2015

Variant appearance in text: PLD3: Val232Met; rs145999145

PubMed Link: 27081517

Variant Present in the following documents:

• Main text
• hgv201428.pdf

View BVdb publication page

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Novel susceptibility loci for Alzheimer's disease.

Future Neurology

Reitz, Christiane C

Publication Date: 2015-12

Variant appearance in text: PLD3: Val232Met

PubMed Link: 27057151

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polygenic Analysis of Late-Onset Alzheimer's Disease from Mainland China.

Plos One

Jiao, Bin B; Liu, Xiaoyan X; Zhou, Lin L; Wang, Maggie Haitian MH; Zhou, Yafang Y; Xiao, Tingting T; Zhang, Weiwei W; Sun, Rui R; Waye, Mary Miu Yee MM; Tang, Beisha B; Shen, Lu L

Publication Date: 2015

Variant appearance in text: rs145999145

PubMed Link: 26680604

Variant Present in the following documents:

• Main text
• pone.0144898.pdf

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: PLD3: 694G>A; V232M; rs145999145

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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Interaction between variants in CLU and MS4A4E modulates Alzheimer's disease risk.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Ebbert, Mark T W MTW; Boehme, Kevin L KL; Wadsworth, Mark E ME; Staley, Lyndsay A LA; , ; , ; Mukherjee, Shubhabrata S; Crane, Paul K PK; Ridge, Perry G PG; Kauwe, John S K JSK

Publication Date: 2016-02

Variant appearance in text: PLD3: Val232Met

PubMed Link: 26449541

Variant Present in the following documents:

• Main text

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