Publications:

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Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease.

Nature Medicine

Duperron, Marie-Gabrielle MG; Knol, Maria J MJ; Le Grand, Quentin Q; Evans, Tavia E TE; Mishra, Aniket A; Tsuchida, Ami A; Roshchupkin, Gennady G; Konuma, Takahiro T; Trégouët, David-Alexandre DA; Romero, Jose Rafael JR; Frenzel, Stefan S; Luciano, Michelle M; Hofer, Edith E; Bourgey, Mathieu M; Dueker, Nicole D ND; Delgado, Pilar P; Hilal, Saima S; Tankard, Rick M RM; Dubost, Florian F; Shin, Jean J; Saba, Yasaman Y; Armstrong, Nicola J NJ; Bordes, Constance C; Bastin, Mark E ME; Beiser, Alexa A; Brodaty, Henry H; Bülow, Robin R; Carrera, Caty C; Chen, Christopher C; Cheng, Ching-Yu CY; Deary, Ian J IJ; Gampawar, Piyush G PG; Himali, Jayandra J JJ; Jiang, Jiyang J; Kawaguchi, Takahisa T; Li, Shuo S; Macalli, Melissa M; Marquis, Pascale P; Morris, Zoe Z; Muñoz Maniega, Susana S; Miyamoto, Susumu S; Okawa, Masakazu M; Paradise, Matthew M; Parva, Pedram P; Rundek, Tatjana T; Sargurupremraj, Muralidharan M; Schilling, Sabrina S; Setoh, Kazuya K; Soukarieh, Omar O; Tabara, Yasuharu Y; Teumer, Alexander A; Thalamuthu, Anbupalam A; Trollor, Julian N JN; Valdés Hernández, Maria C MC; Vernooij, Meike W MW; Völker, Uwe U; Wittfeld, Katharina K; Wong, Tien Yin TY; Wright, Margaret J MJ; Zhang, Junyi J; Zhao, Wanting W; Zhu, Yi-Cheng YC; Schmidt, Helena H; Sachdev, Perminder S PS; Wen, Wei W; Yoshida, Kazumichi K; Joutel, Anne A; Satizabal, Claudia L CL; Sacco, Ralph L RL; Bourque, Guillaume G; , ; Lathrop, Mark M; Paus, Tomas T; Fernandez-Cadenas, Israel I; Yang, Qiong Q; Mazoyer, Bernard B; Boutinaud, Philippe P; Okada, Yukinori Y; Grabe, Hans J HJ; Mather, Karen A KA; Schmidt, Reinhold R; Joliot, Marc M; Ikram, M Arfan MA; Matsuda, Fumihiko F; Tzourio, Christophe C; Wardlaw, Joanna M JM; Seshadri, Sudha S; Adams, Hieab H H HHH; Debette, Stéphanie S

Publication Date: 2023-04-17

Variant appearance in text: rs1126642

PubMed Link: 37069360

Variant Present in the following documents:

• Main text
• 41591_2023_Article_2268.pdf

View BVdb publication page

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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: rs1126642

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Phenotypic and genetic associations of quantitative magnetic susceptibility in UK Biobank brain imaging.

Nature Neuroscience

Wang, Chaoyue C; Martins-Bach, Aurea B AB; Alfaro-Almagro, Fidel F; Douaud, Gwenaëlle G; Klein, Johannes C JC; Llera, Alberto A; Fiscone, Cristiana C; Bowtell, Richard R; Elliott, Lloyd T LT; Smith, Stephen M SM; Tendler, Benjamin C BC; Miller, Karla L KL

Publication Date: 2022-06

Variant appearance in text: rs1126642

PubMed Link: 35606419

Variant Present in the following documents:

• Main text
• 41593_2022_Article_1074.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: GFAP: D295N

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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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: GFAP: D295N

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: GFAP: 883G>A; D295N; rs1126642

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Does genetic anticipation occur in familial Alexander disease?

Neurogenetics

Hunt, Camille K CK; Al Khleifat, Ahmad A; Burchill, Ella E; Ederle, Joerg J; Al-Chalabi, Ammar A; Sreedharan, Jemeen J

Publication Date: 2021-07

Variant appearance in text: GFAP: D295N

PubMed Link: 34046764

Variant Present in the following documents:

• 10048_2021_Article_642.pdf

View BVdb publication page

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A synergetic effect of BARD1 mutations on tumorigenesis.

Nature Communications

Li, Wenjing W; Gu, Xiaoyang X; Liu, Chunhong C; Shi, Yanyan Y; Wang, Pan P; Zhang, Na N; Wu, Rui R; Leng, Liang L; Xie, Bingteng B; Song, Chen C; Li, Mo M

Publication Date: 2021-02-23

Variant appearance in text: GFAP: D295N; rs1126642

PubMed Link: 33623049

Variant Present in the following documents:

• 41467_2021_21519_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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GFAP at 50.

Asn Neuro

Messing, Albee A; Brenner, Michael M

Publication Date: 2020

Variant appearance in text: GFAP: Asp295Asn

PubMed Link: 32811163

Variant Present in the following documents:

• Main text
• 10.1177_1759091420949680.pdf

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: GFAP: D295N; rs1126642

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: GFAP: D295N; rs1126642

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

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: GFAP: 883G>A; Asp295Asn; rs1126642

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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: GFAP: 883G>A; D295N; rs1126642

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

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: rs1126642

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: rs1126642

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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: rs1126642

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: GFAP: D295N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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: GFAP: D295N; rs1126642

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs1126642

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

Bmc Genetics

Harris, Sarah E SE; Fox, Helen H; Wright, Alan F AF; Hayward, Caroline C; Starr, John M JM; Whalley, Lawrence J LJ; Deary, Ian J IJ

Publication Date: 2007-07-02

Variant appearance in text: rs1126642

PubMed Link: 17601350

Variant Present in the following documents:

• Main text
• 1471-2156-8-43.pdf

View BVdb publication page

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