Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: SORL1: A528T

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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Golgi fragmentation - One of the earliest organelle phenotypes in Alzheimer's disease neurons.

Frontiers In Neuroscience

Haukedal, Henriette H; Corsi, Giulia I GI; Gadekar, Veerendra P VP; Doncheva, Nadezhda T NT; Kedia, Shekhar S; de Haan, Noortje N; Chandrasekaran, Abinaya A; Jensen, Pia P; Schiønning, Pernille P; Vallin, Sarah S; Marlet, Frederik Ravnkilde FR; Poon, Anna A; Pires, Carlota C; Agha, Fawzi Khoder FK; Wandall, Hans H HH; Cirera, Susanna S; Simonsen, Anja Hviid AH; Nielsen, Troels Tolstrup TT; Nielsen, Jørgen Erik JE; Hyttel, Poul P; Muddashetty, Ravi R; Aldana, Blanca I BI; Gorodkin, Jan J; Nair, Deepak D; Meyer, Morten M; Larsen, Martin Røssel MR; Freude, Kristine K

Publication Date: 2023

Variant appearance in text: rs2298813

PubMed Link: 36875643

Variant Present in the following documents:

• Main text
• fnins-17-1120086.pdf

View BVdb publication page

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A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: SORL1: A528T

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

View BVdb publication page

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Editorial: Insights in Alzheimer's disease and related dementias.

Frontiers In Aging Neuroscience

Ibáñez, Agustín A; Reiss, Allison B AB; Custodio, Nilton N; Alladi, Suvarna S

Publication Date: 2022

Variant appearance in text: rs2298813

PubMed Link: 36506469

Variant Present in the following documents:

• Main text
• fnagi-14-1068156.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: SORL1: A528T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Endophenotypic effects of the SORL1 variant rs2298813 on regional brain volume in patients with late-onset Alzheimer's disease.

Frontiers In Aging Neuroscience

Chen, Chun-Yu CY; Lin, Yung-Shuan YS; Lee, Wei-Ju WJ; Liao, Yi-Chu YC; Kuo, Yu-Shan YS; Yang, Albert C AC; Fuh, Jong-Ling JL

Publication Date: 2022

Variant appearance in text: SORL1: A528T; rs2298813

PubMed Link: 35992588

Variant Present in the following documents:

• Main text
• fnagi-14-885090.pdf

View BVdb publication page

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An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns.

Genome Research

Jin, Bowen B; Capra, John A JA; Benchek, Penelope P; Wheeler, Nicholas N; Naj, Adam C AC; Hamilton-Nelson, Kara L KL; Farrell, John J JJ; Leung, Yuk Yee YY; Kunkle, Brian B; Vadarajan, Badri B; Schellenberg, Gerard D GD; Mayeux, Richard R; Wang, Li-San LS; Farrer, Lindsay A LA; Pericak-Vance, Margaret A MA; Martin, Eden R ER; Haines, Jonathan L JL; Crawford, Dana C DC; Bush, William S WS

Publication Date: 2022-04

Variant appearance in text: SORL1: A528T

PubMed Link: 35210353

Variant Present in the following documents:

• Main text
• 778.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: SORL1: A528T

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Association Between Common Variants of APOE, ABCA7, A2M, BACE1, and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease: Data from the PUMCH Dementia Cohort.

Journal Of Alzheimer'S Disease : Jad

Dong, Liling L; Mao, Chenhui C; Liu, Caiyan C; Li, Jie J; Huang, Xinying X; Wang, Jie J; Lei, Dan D; Chu, Shanshan S; Sha, Longze L; Xu, Qi Q; Peng, Bin B; Cui, Liying L; Gao, Jing J

Publication Date: 2022

Variant appearance in text: SORL1: 1582G>A; A528T; rs2298813

PubMed Link: 34958020

Variant Present in the following documents:

• jad-85-jad215067-s001.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: SORL1: A528T

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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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: SORL1: A528T; rs2298813

PubMed Link: 34506082

Variant Present in the following documents:

• ACN3-8-1961-s001.xlsx, sheet 1

View BVdb publication page

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Association between Alzheimer's disease genes and trajectories of cognitive function decline in Han Chinese in Taiwan.

Aging

Hsieh, Tsung-Jen TJ; Lee, Wei-Ju WJ; Liao, Yi-Chu YC; Hsu, Chih-Cheng CC; Fang, Yao-Hwei YH; Chen, Tzu-Yu TY; Lin, Yung-Shuan YS; Chang, I-Shou IS; Wang, Shuu-Jiun SJ; Hsiung, Chao A CA; Fuh, Jong-Ling JL; ,

Publication Date: 2021-07-02

Variant appearance in text: rs2298813

PubMed Link: 34214049

Variant Present in the following documents:

• Main text
• aging-13-203204.pdf

View BVdb publication page

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SORL1 mutations are associated with parkinsonian and psychiatric features in Alzheimer disease: Case reports.

Medicine

Qiu, Guozhen G; Xu, Chunyan C; Guo, Qiwen Q; Zhu, Fei-Qi FQ

Publication Date: 2021-04-23

Variant appearance in text: SORL1: A528T

PubMed Link: 33879716

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Human Molecular Genetics

Qin, Wei W; Zhou, Aihong A; Zuo, Xiumei X; Jia, Longfei L; Li, Fangyu F; Wang, Qi Q; Li, Ying Y; Wei, Yiping Y; Jin, Hongmei H; Cruchaga, Carlos C; Benitez, Bruno A BA; Jia, Jianping J

Publication Date: 2021-05-28

Variant appearance in text: SORL1: 1582G>A; A528T; rs2298813

PubMed Link: 33835157

Variant Present in the following documents:

• supplementary_tables_ddab090.xlsx, sheet 1

View BVdb publication page

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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: SORL1: Ala528Thr; rs2298813

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes.

Nature Genetics

Schwartzentruber, Jeremy J; Cooper, Sarah S; Liu, Jimmy Z JZ; Barrio-Hernandez, Inigo I; Bello, Erica E; Kumasaka, Natsuhiko N; Young, Adam M H AMH; Franklin, Robin J M RJM; Johnson, Toby T; Estrada, Karol K; Gaffney, Daniel J DJ; Beltrao, Pedro P; Bassett, Andrew A

Publication Date: 2021-03

Variant appearance in text: rs2298813

PubMed Link: 33589840

Variant Present in the following documents:

• Main text
• EMS118040.pdf

View BVdb publication page

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Human stem cell-derived microglia will be an indispensable toolbox for Alzheimer's disease research.

Neural Regeneration Research

Liu, Tongfei T

Publication Date: 2021-09

Variant appearance in text: SORL1: A528T

PubMed Link: 33510070

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multi-omic comparison of Alzheimer's variants in human ESC-derived microglia reveals convergence at APOE.

The Journal Of Experimental Medicine

Liu, Tongfei T; Zhu, Bing B; Liu, Yan Y; Zhang, Xiaoming X; Yin, Jun J; Li, Xiaoguang X; Jiang, LuLin L; Hodges, Andrew P AP; Rosenthal, Sara Brin SB; Zhou, Lisa L; Yancey, Joel J; McQuade, Amanda A; Blurton-Jones, Mathew M; Tanzi, Rudolph E RE; Huang, Timothy Y TY; Xu, Huaxi H

Publication Date: 2020-12-07

Variant appearance in text: SORL1: A528T; rs2298813

PubMed Link: 32941599

Variant Present in the following documents:

• Main text
• JEM_20200474.pdf

View BVdb publication page

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Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Bagyinszky, Eva E; Lee, Hyon H; Pyun, Jung Min JM; Suh, Jeewon J; Kang, Min Ju MJ; Vo, Van Giau VG; An, Seong Soo A SSA; Park, Kee Hyung KH; Kim, SangYun S

Publication Date: 2020-06-14

Variant appearance in text: SORL1: A528T; rs2298813

PubMed Link: 32545847

Variant Present in the following documents:

• Main text
• diagnostics-10-00405.pdf

View BVdb publication page

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Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports

Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C

Publication Date: 2020-04-28

Variant appearance in text: SORL1: A528T

PubMed Link: 32345996

Variant Present in the following documents:

• Main text
• 41598_2020_Article_63183.pdf
• 41598_2020_63183_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: SORL1: A528T

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: SORL1: A528T; rs2298813

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs2298813

PubMed Link: 31450785

Variant Present in the following documents:

• cells-08-00962-s001.pdf

View BVdb publication page

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Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine

Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA

Publication Date: 2019-09

Variant appearance in text: rs2298813

PubMed Link: 31397093

Variant Present in the following documents:

• Main text
• MGG3-7-e931.pdf

View BVdb publication page

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Somatic mutation that affects transcription factor binding upstream of CD55 in the temporal cortex of a late-onset Alzheimer disease patient.

Human Molecular Genetics

Helgadottir, Hafdis T HT; Lundin, Pär P; Wallén Arzt, Emelie E; Lindström, Anna-Karin AK; Graff, Caroline C; Eriksson, Maria M

Publication Date: 2019-08-15

Variant appearance in text: rs2298813

PubMed Link: 31216356

Variant Present in the following documents:

• Main text
• ddz085.pdf

View BVdb publication page

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Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports

Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-06-10

Variant appearance in text: SORL1: Ala528Thr; rs2298813

PubMed Link: 31182772

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Senanarong, Vorapun V; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-03-26

Variant appearance in text: SORL1: A528T; rs2298813

PubMed Link: 30917570

Variant Present in the following documents:

• ijms-20-01514-s001.pdf

View BVdb publication page

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Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.

Neuropsychiatric Disease And Treatment

Van Giau, Vo V; Senanarong, Vorapun V; Bagyinszky, Eva E; Limwongse, Chanin C; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: SORL1: A528T; rs2298813

PubMed Link: 30510423

Variant Present in the following documents:

• Main text
• ndt-14-3015.pdf

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: SORL1: A528T

PubMed Link: 30503768

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1582G>A; Ala528Thr; rs2298813

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Molecular Psychiatry

Bis, Joshua C JC; Jian, Xueqiu X; Kunkle, Brian W BW; Chen, Yuning Y; Hamilton-Nelson, Kara L KL; Bush, William S WS; Salerno, William J WJ; Lancour, Daniel D; Ma, Yiyi Y; Renton, Alan E AE; Marcora, Edoardo E; Farrell, John J JJ; Zhao, Yi Y; Qu, Liming L; Ahmad, Shahzad S; Amin, Najaf N; Amouyel, Philippe P; Beecham, Gary W GW; Below, Jennifer E JE; Campion, Dominique D; Cantwell, Laura L; Charbonnier, Camille C; Chung, Jaeyoon J; Crane, Paul K PK; Cruchaga, Carlos C; Cupples, L Adrienne LA; Dartigues, Jean-François JF; Debette, Stéphanie S; Deleuze, Jean-François JF; Fulton, Lucinda L; Gabriel, Stacey B SB; Genin, Emmanuelle E; Gibbs, Richard A RA; Goate, Alison A; Grenier-Boley, Benjamin B; Gupta, Namrata N; Haines, Jonathan L JL; Havulinna, Aki S AS; Helisalmi, Seppo S; Hiltunen, Mikko M; Howrigan, Daniel P DP; Ikram, M Arfan MA; Kaprio, Jaakko J; Konrad, Jan J; Kuzma, Amanda A; Lander, Eric S ES; Lathrop, Mark M; Lehtimäki, Terho T; Lin, Honghuang H; Mattila, Kari K; Mayeux, Richard R; Muzny, Donna M DM; Nasser, Waleed W; Neale, Benjamin B; Nho, Kwangsik K; Nicolas, Gaël G; Patel, Devanshi D; Pericak-Vance, Margaret A MA; Perola, Markus M; Psaty, Bruce M BM; Quenez, Olivier O; Rajabli, Farid F; Redon, Richard R; Reitz, Christiane C; Remes, Anne M AM; Salomaa, Veikko V; Sarnowski, Chloe C; Schmidt, Helena H; Schmidt, Michael M; Schmidt, Reinhold R; Soininen, Hilkka H; Thornton, Timothy A TA; Tosto, Giuseppe G; Tzourio, Christophe C; van der Lee, Sven J SJ; van Duijn, Cornelia M CM; Valladares, Otto O; Vardarajan, Badri B; Wang, Li-San LS; Wang, Weixin W; Wijsman, Ellen E; Wilson, Richard K RK; Witten, Daniela D; Worley, Kim C KC; Zhang, Xiaoling X; , ; Bellenguez, Celine C; Lambert, Jean-Charles JC; Kurki, Mitja I MI; Palotie, Aarno A; Daly, Mark M; Boerwinkle, Eric E; Lunetta, Kathryn L KL; Destefano, Anita L AL; Dupuis, Josée J; Martin, Eden R ER; Schellenberg, Gerard D GD; Seshadri, Sudha S; Naj, Adam C AC; Fornage, Myriam M; Farrer, Lindsay A LA

Publication Date: 2020-08

Variant appearance in text: SORL1: A528T

PubMed Link: 30108311

Variant Present in the following documents:

• Main text
• 41380_2018_Article_112.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: SORL1: 1582G>A; A528T; rs2298813

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 5
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: SORL1: A528T; rs2298813

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2298813

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy.

European Journal Of Human Genetics : Ejhg

Holstege, Henne H; van der Lee, Sven J SJ; Hulsman, Marc M; Wong, Tsz Hang TH; van Rooij, Jeroen Gj JG; Weiss, Marjan M; Louwersheimer, Eva E; Wolters, Frank J FJ; Amin, Najaf N; Uitterlinden, André G AG; Hofman, Albert A; Ikram, M Arfan MA; van Swieten, John C JC; Meijers-Heijboer, Hanne H; van der Flier, Wiesje M WM; Reinders, Marcel Jt MJ; van Duijn, Cornelia M CM; Scheltens, Philip P

Publication Date: 2017-08

Variant appearance in text: rs2298813

PubMed Link: 28537274

Variant Present in the following documents:

• ejhg201787x2.xlsx, sheet 1

View BVdb publication page

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SORL1 gene, plasma biomarkers, and the risk of Alzheimer's disease for the Han Chinese population in Taiwan.

Alzheimer'S Research & Therapy

Chou, Cheng-Ta CT; Liao, Yi-Chu YC; Lee, Wei-Ju WJ; Wang, Shuu-Jiun SJ; Fuh, Jong-Ling JL

Publication Date: 2016-12-30

Variant appearance in text: SORL1: A528T; rs2298813

PubMed Link: 28034305

Variant Present in the following documents:

• Main text
• 13195_2016_Article_222.pdf

View BVdb publication page

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Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity.

Journal Of Alzheimer'S Disease : Jad

Louwersheimer, Eva E; Cohn-Hokke, Petra E PE; Pijnenburg, Yolande A L YA; Weiss, Marjan M MM; Sistermans, Erik A EA; Rozemuller, Annemieke J AJ; Hulsman, Marc M; van Swieten, John C JC; van Duijn, Cock M CM; Barkhof, Frederik F; Koene, Teddy T; Scheltens, Philip P; Van der Flier, Wiesje M WM; Holstege, Henne H

Publication Date: 2017

Variant appearance in text: SORL1: Ala528Thr

PubMed Link: 27911290

Variant Present in the following documents:

• Main text

View BVdb publication page

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SORL1 mutations in early- and late-onset Alzheimer disease.

Neurology. Genetics

Cuccaro, Michael L ML; Carney, Regina M RM; Zhang, Yalun Y; Bohm, Christopher C; Kunkle, Brian W BW; Vardarajan, Badri N BN; Whitehead, Patrice L PL; Cukier, Holly N HN; Mayeux, Richard R; St George-Hyslop, Peter P; Pericak-Vance, Margaret A MA

Publication Date: 2016-12

Variant appearance in text: SORL1: A528T; rs2298813

PubMed Link: 27822510

Variant Present in the following documents:

• Main text

View BVdb publication page

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Risk factor SORL1: from genetic association to functional validation in Alzheimer's disease.

Acta Neuropathologica

Andersen, Olav M OM; Rudolph, Ina-Maria IM; Willnow, Thomas E TE

Publication Date: 2016-11

Variant appearance in text: SORL1: A528T

PubMed Link: 27638701

Variant Present in the following documents:

• Main text
• 401_2016_Article_1615.pdf

View BVdb publication page

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Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Plos One

Sassi, Celeste C; Ridge, Perry G PG; Nalls, Michael A MA; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; , ; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Bras, Jose J; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hardy, John J

Publication Date: 2016

Variant appearance in text: SORL1: A528T; rs2298813

PubMed Link: 27249223

Variant Present in the following documents:

• pone.0150079.s002.xlsx, sheet 1

View BVdb publication page

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Impact of SORL1 genetic variations on MRI markers in non-demented elders.

Oncotarget

Yin, Rui-Hua RH; Li, Jun J; Tan, Lin L; Wang, Hui-Fu HF; Tan, Meng-Shan MS; Yu, Wan-Jiang WJ; Tan, Chen-Chen CC; Yu, Jin-Tai JT; Tan, Lan L; ,

Publication Date: 2016-05-31

Variant appearance in text: rs2298813

PubMed Link: 27177090

Variant Present in the following documents:

• Main text
• oncotarget-07-31689.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: SORL1: A528T; rs2298813

PubMed Link: 27057151

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.

Acta Neuropathologica

Verheijen, Jan J; Van den Bossche, Tobi T; van der Zee, Julie J; Engelborghs, Sebastiaan S; Sanchez-Valle, Raquel R; Lladó, Albert A; Graff, Caroline C; Thonberg, Håkan H; Pastor, Pau P; Ortega-Cubero, Sara S; Pastor, Maria A MA; Benussi, Luisa L; Ghidoni, Roberta R; Binetti, Giuliano G; Clarimon, Jordi J; Lleó, Alberto A; Fortea, Juan J; de Mendonça, Alexandre A; Martins, Madalena M; Grau-Rivera, Oriol O; Gelpi, Ellen E; Bettens, Karolien K; Mateiu, Ligia L; Dillen, Lubina L; Cras, Patrick P; De Deyn, Peter P PP; Van Broeckhoven, Christine C; Sleegers, Kristel K

Publication Date: 2016-08

Variant appearance in text: SORL1: Ala528Thr

PubMed Link: 27026413

Variant Present in the following documents:

• Main text
• 401_2016_Article_1566.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs2298813

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SORL1: A528T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: SORL1: A528T; rs2298813

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SORL1: A528T; rs2298813

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Coding mutations in SORL1 and Alzheimer disease.

Annals Of Neurology

Vardarajan, Badri N BN; Zhang, Yalun Y; Lee, Joseph H JH; Cheng, Rong R; Bohm, Christopher C; Ghani, Mahdi M; Reitz, Christiane C; Reyes-Dumeyer, Dolly D; Shen, Yufeng Y; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Mayeux, Richard R

Publication Date: 2015-02

Variant appearance in text: SORL1: A528T; rs2298813

PubMed Link: 25382023

Variant Present in the following documents:

• Main text

View BVdb publication page

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