Publications:

---

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1133174

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

Genome-wide association of polygenic risk extremes for Alzheimer's disease in the UK Biobank.

Scientific Reports

Gouveia, Catarina C; Gibbons, Elizabeth E; Dehghani, Nadia N; Eapen, James J; Guerreiro, Rita R; Bras, Jose J

Publication Date: 2022-05-19

Variant appearance in text: rs1133174

PubMed Link: 35589863

Variant Present in the following documents:

• Main text

View BVdb publication page

---

SORL1 mutation in a Greek family with Parkinson's disease and dementia.

Annals Of Clinical And Translational Neurology

Xiromerisiou, Georgia G; Bourinaris, Thomas T; Houlden, Henry H; Lewis, Patrick A PA; Senkevich, Konstantin K; Hammer, Monia M; Federoff, Monica M; Khan, Alaa A; Spanaki, Cleanthe C; Hadjigeorgiou, Georgios M GM; Bonstanjopoulou, Sevasti S; Fidani, Liana L; Ermolaev, Aleksey A; Gan-Or, Ziv Z; Singleton, Andrew A; Vandrovcova, Jana J; Hardy, John J

Publication Date: 2021-10

Variant appearance in text: rs1133174

PubMed Link: 34506082

Variant Present in the following documents:

• ACN3-8-1961-s001.xlsx, sheet 1

View BVdb publication page

---

Use of Deep-Learning Genomics to Discriminate Healthy Individuals from Those with Alzheimer's Disease or Mild Cognitive Impairment.

Behavioural Neurology

Li, Lanlan L; Yang, Yeying Y; Zhang, Qi Q; Wang, Jiao J; Jiang, Jiehui J; Neuroimaging Initiative, Alzheimer's Disease AD

Publication Date: 2021

Variant appearance in text: rs1133174

PubMed Link: 34336000

Variant Present in the following documents:

• Main text
• BN2021-3359103.pdf

View BVdb publication page

---

Mutant Huntingtin Affects Diabetes and Alzheimer's Markers in Human and Cell Models of Huntington's Disease.

Cells

Chaves, Gepoliano G; Stanley, John J; Pourmand, Nader N

Publication Date: 2019-08-23

Variant appearance in text: rs1133174

PubMed Link: 31450785

Variant Present in the following documents:

• cells-08-00962-s001.pdf

View BVdb publication page

---

Association of multiple candidate genes with mild cognitive impairment in an elderly Chinese Uygur population in Xinjiang.

Psychogeriatrics : The Official Journal Of The Japanese Psychogeriatric Society

Zou, Ting T; Chen, Wei W; Zhou, Xiaohui X; Duan, Yali Y; Ying, Xiuru X; Liu, Guili G; Zhu, Meisheng M; Pari, Abuliz A; Alimu, Kader K; Miao, Haijun H; Kabinur, Keyim K; Zhang, Lei L; Wang, Qinwen Q; Duan, Shiwei S

Publication Date: 2019-11

Variant appearance in text: rs1133174

PubMed Link: 30983028

Variant Present in the following documents:

• Main text
• PSYG-19-574.pdf

View BVdb publication page

---

Association of OGG1 and DLST promoter methylation with Alzheimer's disease in Xinjiang population.

Experimental And Therapeutic Medicine

Chen, Wei W; Zhou, Xiaohui X; Duan, Yali Y; Zou, Ting T; Liu, Guili G; Ying, Xiuru X; Wang, Qinwen Q; Duan, Shiwei S

Publication Date: 2018-10

Variant appearance in text: rs1133174

PubMed Link: 30214536

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Associations of the Top 20 Alzheimer Disease Risk Variants With Brain Amyloidosis.

Jama Neurology

Apostolova, Liana G LG; Risacher, Shannon L SL; Duran, Tugce T; Stage, Eddie C EC; Goukasian, Naira N; West, John D JD; Do, Triet M TM; Grotts, Jonathan J; Wilhalme, Holly H; Nho, Kwangsik K; Phillips, Meredith M; Elashoff, David D; Saykin, Andrew J AJ; ,

Publication Date: 2018-03-01

Variant appearance in text: rs1133174

PubMed Link: 29340569

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs1133174

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

---

An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer's disease in the Han Chinese population.

Neuropsychiatric Disease And Treatment

Zhang, Feng F; Liu, Xiaowei X; Wang, Bailing B; Cheng, Zaohuo Z; Zhao, Xingfu X; Zhu, Jianzhong J; Wang, Degang D; Wang, Ying Y; Dong, Aiguo A; Li, Pengpeng P; Jin, Chunhui C

Publication Date: 2015

Variant appearance in text: rs1133174

PubMed Link: 26109858

Variant Present in the following documents:

• Main text
• ndt-11-1443.pdf

View BVdb publication page

---

Meta-analysis of the association between variants in SORL1 and Alzheimer disease.

Archives Of Neurology

Reitz, Christiane C; Cheng, Rong R; Rogaeva, Ekaterina E; Lee, Joseph H JH; Tokuhiro, Shinya S; Zou, Fanggeng F; Bettens, Karolien K; Sleegers, Kristel K; Tan, Eng King EK; Kimura, Ryo R; Shibata, Nobuto N; Arai, Heii H; Kamboh, M Ilyas MI; Prince, Jonathan A JA; Maier, Wolfgang W; Riemenschneider, Matthias M; Owen, Michael M; Harold, Denise D; Hollingworth, Paul P; Cellini, Elena E; Sorbi, Sandro S; Nacmias, Benedetta B; Takeda, Masatoshi M; Pericak-Vance, Margaret A MA; Haines, Jonathan L JL; Younkin, Steven S; Williams, Julie J; van Broeckhoven, Christine C; Farrer, Lindsay A LA; St George-Hyslop, Peter H PH; Mayeux, Richard R; ,

Publication Date: 2011-01

Variant appearance in text: rs1133174

PubMed Link: 21220680

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Association of distinct variants in SORL1 with cerebrovascular and neurodegenerative changes related to Alzheimer disease.

Archives Of Neurology

T Cuenco, Karen K; Lunetta, Kathryn L KL; Baldwin, Clinton T CT; McKee, Ann C AC; Guo, Jianping J; Cupples, L Adrienne LA; Green, Robert C RC; St George-Hyslop, Peter H PH; Chui, Helena H; DeCarli, Charles C; Farrer, Lindsay A LA; ,

Publication Date: 2008-12

Variant appearance in text: rs1133174

PubMed Link: 19064752

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Association between SORL1 and Alzheimer's disease in a genome-wide study.

Neuroreport

Meng, Yan Y; Lee, Joseph H JH; Cheng, Rong R; St George-Hyslop, Peter P; Mayeux, Richard R; Farrer, Lindsay A LA

Publication Date: 2007-11-19

Variant appearance in text: rs1133174

PubMed Link: 18090307

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort.

Archives Of Neurology

Lee, Joseph H JH; Cheng, Rong R; Schupf, Nicole N; Manly, Jennifer J; Lantigua, Rafael R; Stern, Yaakov Y; Rogaeva, Ekaterina E; Wakutani, Yosuke Y; Farrer, Lindsay L; St George-Hyslop, Peter P; Mayeux, Richard R

Publication Date: 2007-04

Variant appearance in text: rs1133174

PubMed Link: 17420311

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.

Nature Genetics

Rogaeva, Ekaterina E; Meng, Yan Y; Lee, Joseph H JH; Gu, Yongjun Y; Kawarai, Toshitaka T; Zou, Fanggeng F; Katayama, Taiichi T; Baldwin, Clinton T CT; Cheng, Rong R; Hasegawa, Hiroshi H; Chen, Fusheng F; Shibata, Nobuto N; Lunetta, Kathryn L KL; Pardossi-Piquard, Raphaelle R; Bohm, Christopher C; Wakutani, Yosuke Y; Cupples, L Adrienne LA; Cuenco, Karen T KT; Green, Robert C RC; Pinessi, Lorenzo L; Rainero, Innocenzo I; Sorbi, Sandro S; Bruni, Amalia A; Duara, Ranjan R; Friedland, Robert P RP; Inzelberg, Rivka R; Hampe, Wolfgang W; Bujo, Hideaki H; Song, You-Qiang YQ; Andersen, Olav M OM; Willnow, Thomas E TE; Graff-Radford, Neill N; Petersen, Ronald C RC; Dickson, Dennis D; Der, Sandy D SD; Fraser, Paul E PE; Schmitt-Ulms, Gerold G; Younkin, Steven S; Mayeux, Richard R; Farrer, Lindsay A LA; St George-Hyslop, Peter P

Publication Date: 2007-02

Variant appearance in text: rs1133174

PubMed Link: 17220890

Variant Present in the following documents:

• Main text

View BVdb publication page

---