Publications:

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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: rs146903951

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Whole Exome Sequencing Study in Isolated South-Eastern Moravia (Czechia) Population Indicates Heterogenous Genetic Background for Parkinsonism Development.

Frontiers In Neuroscience

Kolarikova, Kristyna K; Vodicka, Radek R; Vrtel, Radek R; Stellmachova, Julia J; Prochazka, Martin M; Mensikova, Katerina K; Kanovsky, Petr P

Publication Date: 2022

Variant appearance in text: SORL1: 3295T>C; F1099L; rs146903951

PubMed Link: 35368288

Variant Present in the following documents:

• Main text
• fnins-16-817713.pdf

View BVdb publication page

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Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease.

Acta Neuropathologica Communications

Rovelet-Lecrux, Anne A; Feuillette, Sebastien S; Miguel, Laetitia L; Schramm, Catherine C; Pernet, Ségolène S; Quenez, Olivier O; Ségalas-Milazzo, Isabelle I; Guilhaudis, Laure L; Rousseau, Stéphane S; Riou, Gaëtan G; Frébourg, Thierry T; Campion, Dominique D; Nicolas, Gaël G; Lecourtois, Magalie M

Publication Date: 2021-12-18

Variant appearance in text: SorLA: 3295T>C

PubMed Link: 34922638

Variant Present in the following documents:

• 40478_2021_1294_MOESM3_ESM.xlsx, sheet 1
• 40478_2021_1294_MOESM4_ESM.xls, sheet 1

View BVdb publication page

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Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease.

Acta Neuropathologica Communications

Rovelet-Lecrux, Anne A; Feuillette, Sebastien S; Miguel, Laetitia L; Schramm, Catherine C; Pernet, Ségolène S; Quenez, Olivier O; Ségalas-Milazzo, Isabelle I; Guilhaudis, Laure L; Rousseau, Stéphane S; Riou, Gaëtan G; Frébourg, Thierry T; Campion, Dominique D; Nicolas, Gaël G; Lecourtois, Magalie M

Publication Date: 2021-12-18

Variant appearance in text: SorLA: 3295T>C

PubMed Link: 34922638

Variant Present in the following documents:

• 40478_2021_1294_MOESM4_ESM.xls, sheet 1
• 40478_2021_1294_MOESM3_ESM.xlsx, sheet 1

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: 3295T>C; F1099L; rs146903951

PubMed Link: 32345996

Variant Present in the following documents:

• 41598_2020_63183_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: rs146903951

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: SORL1: F1099L

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7

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: rs146903951

PubMed Link: 28537274

Variant Present in the following documents:

• ejhg201787x2.xlsx, sheet 1

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: SORL1: F1099L; rs146903951

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

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: F1099L; rs146903951

PubMed Link: 27249223

Variant Present in the following documents:

• pone.0150079.s002.xlsx, sheet 1

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: SORL1: F1099L; rs146903951

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 4

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: F1099L; rs146903951

PubMed Link: 25382023

Variant Present in the following documents:

• Main text

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: SORL1: F1099L; rs146903951

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 18
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5

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CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Plos One

Mao, Yong Y; Chen, Han H; Liang, Han H; Meric-Bernstam, Funda F; Mills, Gordon B GB; Chen, Ken K

Publication Date: 2013

Variant appearance in text: SORL1: F1099L

PubMed Link: 24205039

Variant Present in the following documents:

• pone.0077945.s001.xls, sheet 3

View BVdb publication page

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