Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs2301600

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: rs2301600

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Insights into myelin dysfunction in schizophrenia and bipolar disorder.

World Journal Of Psychiatry

Valdés-Tovar, Marcela M; Rodríguez-Ramírez, Alejandra Monserrat AM; Rodríguez-Cárdenas, Leslye L; Sotelo-Ramírez, Carlo E CE; Camarena, Beatriz B; Sanabrais-Jiménez, Marco Antonio MA; Solís-Chagoyán, Héctor H; Argueta, Jesús J; López-Riquelme, Germán Octavio GO

Publication Date: 2022-02-19

Variant appearance in text: rs2301600

PubMed Link: 35317338

Variant Present in the following documents:

• WJP-12-264.pdf

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Genome-wide epistasis analysis for Alzheimer's disease and implications for genetic risk prediction.

Alzheimer'S Research & Therapy

Wang, Hui H; Bennett, David A DA; De Jager, Philip L PL; Zhang, Qing-Ye QY; Zhang, Hong-Yu HY

Publication Date: 2021-03-04

Variant appearance in text: rs2301600

PubMed Link: 33663605

Variant Present in the following documents:

• Main text
• 13195_2021_Article_794.pdf

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Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype.

Journal Of Clinical Medicine

Santos, Mariana M; Damásio, Joana J; Kun-Rodrigues, Célia C; Barbot, Clara C; Sequeiros, Jorge J; Brás, José J; Alonso, Isabel I; Guerreiro, Rita R

Publication Date: 2020-04-23

Variant appearance in text: MAG: Ser133Arg

PubMed Link: 32340215

Variant Present in the following documents:

• Main text
• jcm-09-01212.pdf

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Genetic Screening of Plasticity Regulating Nogo-Type Signaling Genes in Migraine.

Brain Sciences

Smedfors, Gabriella G; Liesecke, Franziska F; Ran, Caroline C; Olson, Lars L; Karlsson, Tobias E TE; Carmine Belin, Andrea A

Publication Date: 2019-12-20

Variant appearance in text: rs2301600

PubMed Link: 31861860

Variant Present in the following documents:

• Main text
• brainsci-10-00005.pdf

View BVdb publication page

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Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports

AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK

Publication Date: 2019-10-11

Variant appearance in text: rs2301600

PubMed Link: 31604968

Variant Present in the following documents:

• 41598_2019_50876_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs2301600

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM

Publication Date: 2018-07-19

Variant appearance in text: rs2301600

PubMed Link: 30026549

Variant Present in the following documents:

• Main text
• 41598_2018_Article_29279.pdf
• 41598_2018_29279_MOESM1_ESM.pdf

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: rs2301600

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Endoplasmic Reticulum Protein Quality Control Failure in Myelin Disorders.

Frontiers In Molecular Neuroscience

Volpi, Vera G VG; Touvier, Thierry T; D'Antonio, Maurizio M

Publication Date: 2016

Variant appearance in text: MAG: S133R

PubMed Link: 28101003

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structural basis of myelin-associated glycoprotein adhesion and signalling.

Nature Communications

Pronker, Matti F MF; Lemstra, Suzanne S; Snijder, Joost J; Heck, Albert J R AJ; Thies-Weesie, Dominique M E DM; Pasterkamp, R Jeroen RJ; Janssen, Bert J C BJ

Publication Date: 2016-12-06

Variant appearance in text: MAG: S133R

PubMed Link: 27922006

Variant Present in the following documents:

• ncomms13584-s2.pdf

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Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site.

Annals Of Clinical And Translational Neurology

Roda, Ricardo H RH; FitzGibbon, Edmond J EJ; Boucekkine, Houda H; Schindler, Alice B AB; Blackstone, Craig C

Publication Date: 2016-08

Variant appearance in text: MAG: 399C>G; Ser133Arg

PubMed Link: 27606346

Variant Present in the following documents:

• Main text
• ACN3-3-650.pdf

View BVdb publication page

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Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.

Brain : A Journal Of Neurology

Lossos, Alexander A; Elazar, Nimrod N; Lerer, Israela I; Schueler-Furman, Ora O; Fellig, Yakov Y; Glick, Benjamin B; Zimmerman, Bat-El BE; Azulay, Haim H; Dotan, Shlomo S; Goldberg, Sharon S; Gomori, John M JM; Ponger, Penina P; Newman, J P JP; Marreed, Hodaifah H; Steck, Andreas J AJ; Schaeren-Wiemers, Nicole N; Mor, Nofar N; Harel, Michal M; Geiger, Tamar T; Eshed-Eisenbach, Yael Y; Meiner, Vardiella V; Peles, Elior E

Publication Date: 2015-09

Variant appearance in text: MAG: 399C>G; S133R; rs2301600

PubMed Link: 26179919

Variant Present in the following documents:

• Main text

View BVdb publication page

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Oligodendrocyte genes, white matter tract integrity, and cognition in schizophrenia.

Cerebral Cortex (New York, N.Y. : 1991)

Voineskos, Aristotle N AN; Felsky, Daniel D; Kovacevic, Natasa N; Tiwari, Arun K AK; Zai, Clement C; Chakravarty, M Mallar MM; Lobaugh, Nancy J NJ; Shenton, Martha E ME; Rajji, Tarek K TK; Miranda, Dielle D; Pollock, Bruce G BG; Mulsant, Benoit H BH; McIntosh, Anthony R AR; Kennedy, James L JL

Publication Date: 2013-09

Variant appearance in text: rs2301600

PubMed Link: 22772651

Variant Present in the following documents:

• Main text

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The Ig-like v-type domain of paired Ig-like type 2 receptor alpha is critical for herpes simplex virus type 1-mediated membrane fusion.

Journal Of Virology

Fan, Qing Q; Longnecker, Richard R

Publication Date: 2010-09

Variant appearance in text: MAG: S133R

PubMed Link: 20573830

Variant Present in the following documents:

• Main text

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