Publications:

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OpenCustomDB: Integration of Unannotated Open Reading Frames and Genetic Variants to Generate More Comprehensive Customized Protein Databases.

Journal Of Proteome Research

Guilloy, Noé N; Brunet, Marie A MA; Leblanc, Sébastien S; Jacques, Jean-François JF; Hardy, Marie-Pierre MP; Ehx, Grégory G; Lanoix, Joël J; Thibault, Pierre P; Perreault, Claude C; Roucou, Xavier X

Publication Date: 2023-03-24

Variant appearance in text: SORL1: Asn1392Asn

PubMed Link: 36961377

Variant Present in the following documents:

• pr3c00054_si_002.xlsx, sheet 2

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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: N1392N

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

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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: 4176C>T; N1392N; rs2276412

PubMed Link: 34958020

Variant Present in the following documents:

• jad-85-jad215067-s001.pdf

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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: N1392N; rs2276412

PubMed Link: 34506082

Variant Present in the following documents:

• ACN3-8-1961-s001.xlsx, sheet 1

View BVdb publication page

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Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Journal Of Medical Genetics

Codina-Sola, Marta M; Costa-Roger, Mar M; Pérez-García, Debora D; Flores, Raquel R; Palacios-Verdú, Maria Gabriela MG; Cusco, Ivon I; Pérez-Jurado, Luis Alberto LA

Publication Date: 2019-12

Variant appearance in text: rs2276412

PubMed Link: 31413120

Variant Present in the following documents:

• jmedgenet-2019-106080supp001.pdf

View BVdb publication page

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An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor.

Neurobiology Of Aging

Blechingberg, Jenny J; Poulsen, Annemarie Svane Aavild ASA; Kjølby, Mads M; Monti, Giulia G; Allen, Mariet M; Ivarsen, Anne Kathrine AK; Lincoln, Sarah J SJ; Thotakura, Gangadaar G; Vægter, Christian B CB; Ertekin-Taner, Nilüfer N; Nykjær, Anders A; Andersen, Olav M OM

Publication Date: 2018-11

Variant appearance in text: rs2276412

PubMed Link: 30078640

Variant Present in the following documents:

• Main text

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: 4176C>T; N1392N; rs2276412

PubMed Link: 29974678

Variant Present in the following documents:

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

View BVdb publication page

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Linking Alzheimer's disease and type 2 diabetes: Novel shared susceptibility genes detected by cFDR approach.

Journal Of The Neurological Sciences

Wang, Xia-Fang XF; Lin, Xu X; Li, Ding-You DY; Zhou, Rou R; Greenbaum, Jonathan J; Chen, Yuan-Cheng YC; Zeng, Chun-Ping CP; Peng, Lin-Ping LP; Wu, Ke-Hao KH; Ao, Zeng-Xin ZX; Lu, Jun-Min JM; Guo, Yan-Fang YF; Shen, Jie J; Deng, Hong-Wen HW

Publication Date: 2017-09-15

Variant appearance in text: rs2276412

PubMed Link: 28870582

Variant Present in the following documents:

• Main text

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: rs2276412

PubMed Link: 28537274

Variant Present in the following documents:

• ejhg201787x2.xlsx, sheet 1

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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: N1392N; rs2276412

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: SORL1: N1392N

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s002.xls, sheet 3
• pone.0109576.s001.xls, sheet 3
• pone.0109576.s003.xls, sheet 3

View BVdb publication page

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Genetic determinants of disease progression in Alzheimer's disease.

Journal Of Alzheimer'S Disease : Jad

Wang, Xingbin X; Lopez, Oscar L OL; Sweet, Robert A RA; Becker, James T JT; DeKosky, Steven T ST; Barmada, Mahmud M MM; Demirci, F Yesim FY; Kamboh, M Ilyas MI

Publication Date: 2015

Variant appearance in text: rs2276412

PubMed Link: 25114068

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: SORL1: N1392N; rs2276412

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: SORL1: N1392N; rs2276412

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

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Independent and epistatic effects of variants in VPS10-d receptors on Alzheimer disease risk and processing of the amyloid precursor protein (APP).

Translational Psychiatry

Reitz, C C; Tosto, G G; Vardarajan, B B; Rogaeva, E E; Ghani, M M; Rogers, R S RS; Conrad, C C; Haines, J L JL; Pericak-Vance, M A MA; Fallin, M D MD; Foroud, T T; Farrer, L A LA; Schellenberg, G D GD; George-Hyslop, P S PS; Mayeux, R R; ,

Publication Date: 2013-05-14

Variant appearance in text: rs2276412

PubMed Link: 23673467

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2276412

PubMed Link: 19064752

Variant Present in the following documents:

• Main text

View BVdb publication page

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