Publications:

---

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2276346

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

---

Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs2276346

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

A Generic Sure Independence Screening Procedure.

Journal Of The American Statistical Association

Pan, Wenliang W; Wang, Xueqin X; Xiao, Weinan W; Zhu, Hongtu H

Publication Date: 2019

Variant appearance in text: rs2276346

PubMed Link: 31692981

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Group sparse reduced rank regression for neuroimaging genetic study.

World Wide Web

Zhu, Xiaofeng X; Suk, Heung-Il HI; Shen, Dinggang D

Publication Date: 2019-03

Variant appearance in text: rs2276346

PubMed Link: 31607788

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs2276346

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: SORL1: 1864+41G>T; rs2276346

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

---

Brain-Wide Genome-Wide Association Study for Alzheimer's Disease via Joint Projection Learning and Sparse Regression Model.

Ieee Transactions On Bio-Medical Engineering

Zhou, Tao T; Thung, Kim-Han KH; Liu, Mingxia M; Shen, Dinggang D

Publication Date: 2019-01

Variant appearance in text: rs2276346

PubMed Link: 29993426

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2276346

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Identification of Alzheimer disease-associated variants in genes that regulate retromer function.

Neurobiology Of Aging

Vardarajan, Badri N BN; Bruesegem, Sophia Y SY; Harbour, Michael E ME; Inzelberg, Rivka R; Friedland, Robert R; St George-Hyslop, Peter P; Seaman, Matthew N J MN; Farrer, Lindsay A LA

Publication Date: 2012-09

Variant appearance in text: rs2276346

PubMed Link: 22673115

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Neuroimaging measures as endophenotypes in Alzheimer's disease.

International Journal Of Alzheimer'S Disease

Braskie, Meredith N MN; Ringman, John M JM; Thompson, Paul M PM

Publication Date: 2011-03-31

Variant appearance in text: rs2276346

PubMed Link: 21547229

Variant Present in the following documents:

• Main text
• IJAD2011-490140.pdf

View BVdb publication page

---

Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis.

International Journal Of Molecular Epidemiology And Genetics

Webster, Jennifer J; Reiman, Eric M EM; Zismann, Victoria L VL; Joshipura, Keta D KD; Pearson, John V JV; Hu-Lince, Diane D; Huentelman, Matthew J MJ; Craig, David W DW; Coon, Keith D KD; Beach, Thomas T; Rohrer, Kristen C KC; Zhao, Alice S AS; Leung, Doris D; Bryden, Leslie L; Marlowe, Lauren L; Kaleem, Mona M; Mastroeni, Diego D; Grover, Andrew A; Rogers, Joseph J; Heun, Reinhard R; Jessen, Frank F; Kölsch, Heike H; Heward, Christopher B CB; Ravid, Rivka R; Hutton, Michael L ML; Melquist, Stacey S; Petersen, Ron C RC; Caselli, Richard J RJ; Papassotiropoulos, Andreas A; Stephan, Dietrich A DA; Hardy, John J; Myers, Amanda A

Publication Date: 2010

Variant appearance in text: rs2276346

PubMed Link: 21537449

Variant Present in the following documents:

• Main text

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: rs2276346

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: rs2276346

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: rs2276346

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: rs2276346

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: rs2276346

PubMed Link: 17220890

Variant Present in the following documents:

• Main text

View BVdb publication page

---