Publications:

---

Influence of methyl donor nutrients as epigenetic regulators in colorectal cancer: A systematic review of observational studies.

World Journal Of Gastroenterology

Chávez-Hidalgo, Lourdes Pilar LP; Martín-Fernández-de-Labastida, Silvia S; M de Pancorbo, Marian M; Arroyo-Izaga, Marta M

Publication Date: 2023-02-21

Variant appearance in text: rs535586

PubMed Link: 36926668

Variant Present in the following documents:

• WJG-29-1219.pdf

View BVdb publication page

---

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: N/A

PubMed Link: 36467812

Variant Present in the following documents:

View BVdb publication page

---

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: rs535586

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Increased brain volume from higher cereal and lower coffee intake: shared genetic determinants and impacts on cognition and metabolism.

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

Kang, Jujiao J; Jia, Tianye T; Jiao, Zeyu Z; Shen, Chun C; Xie, Chao C; Cheng, Wei W; Sahakian, Barbara J BJ; Waxman, David D; Feng, Jianfeng J

Publication Date: 2022-11-09

Variant appearance in text: rs535586

PubMed Link: 35136970

Variant Present in the following documents:

• supplementary_materials_revised_submit_bhac005.pdf

View BVdb publication page

---

Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: EHMT2: S237S

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4

View BVdb publication page

---

Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: EHMT2: S237S

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4

View BVdb publication page

---

Trans-Ethnic Fine-Mapping of the Major Histocompatibility Complex Region Linked to Parkinson's Disease.

Movement Disorders : Official Journal Of The Movement Disorder Society

Naito, Tatsuhiko T; Satake, Wataru W; Ogawa, Kotaro K; Suzuki, Ken K; Hirata, Jun J; Foo, Jia Nee JN; Tan, Eng-King EK; Toda, Tatsushi T; Okada, Yukinori Y

Publication Date: 2021-08

Variant appearance in text: rs535586

PubMed Link: 33973677

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: N/A

PubMed Link: 33791233

Variant Present in the following documents:

View BVdb publication page

---

Abstracts for the 32nd European Immunogenetics and Histocompatibility Conference and the 25th Annual Meeting of the Italian Society for Immunogenetics and Transplantation Biology (AIBT) Venice Lido, Italy May 9-12, 2018.

Hla

Publication Date: 2018-05

Variant appearance in text: rs535586

PubMed Link: 32745368

Variant Present in the following documents:

• Main text
• TAN-91-354.pdf

View BVdb publication page

---

Deconvolution of the Genomic and Epigenomic Interaction Landscape of Triple-Negative Breast Cancer.

Cancers

Wu, Jiande J; Mamidi, Tarun Karthik Kumar TKK; Zhang, Lu L; Hicks, Chindo C

Publication Date: 2019-10-31

Variant appearance in text: rs535586

PubMed Link: 31683572

Variant Present in the following documents:

• Main text
• cancers-11-01692.pdf

View BVdb publication page

---

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: N/A

PubMed Link: 31597922

Variant Present in the following documents:

View BVdb publication page

---

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: rs535586

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs535586

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.xlsx, sheet 1

View BVdb publication page

---

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: EHMT2: 711A>G; rs535586

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

---

Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: N/A

PubMed Link: 29221171

Variant Present in the following documents:

View BVdb publication page

---

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: rs535586

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Gene-set meta-analysis of lung cancer identifies pathway related to systemic lupus erythematosus.

Plos One

Rosenberger, Albert A; Sohns, Melanie M; Friedrichs, Stefanie S; Hung, Rayjean J RJ; Fehringer, Gord G; McLaughlin, John J; Amos, Christopher I CI; Brennan, Paul P; Risch, Angela A; Brüske, Irene I; Caporaso, Neil E NE; Landi, Maria Teresa MT; Christiani, David C DC; Wei, Yongyue Y; Bickeböller, Heike H

Publication Date: 2017

Variant appearance in text: rs535586

PubMed Link: 28273134

Variant Present in the following documents:

• Main text
• pone.0173339.pdf

View BVdb publication page

---

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics

Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP

Publication Date: 2015-06-20

Variant appearance in text: N/A

PubMed Link: 26092435

Variant Present in the following documents:

View BVdb publication page

---

Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: N/A

PubMed Link: 25944692

Variant Present in the following documents:

View BVdb publication page

---

Filter-free exhaustive odds ratio-based genome-wide interaction approach pinpoints evidence for interaction in the HLA region in psoriasis.

Bmc Genetics

Grange, Laura L; Bureau, Jean-François JF; Nikolayeva, Iryna I; Paul, Richard R; Van Steen, Kristel K; Schwikowski, Benno B; Sakuntabhai, Anavaj A

Publication Date: 2015-02-06

Variant appearance in text: rs535586

PubMed Link: 25655172

Variant Present in the following documents:

• Main text
• 12863_2015_Article_174.pdf

View BVdb publication page

---

Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: N/A

PubMed Link: 25496518

Variant Present in the following documents:

View BVdb publication page

---

Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects.

Molecular Autism

Balan, Shabeesh S; Iwayama, Yoshimi Y; Maekawa, Motoko M; Toyota, Tomoko T; Ohnishi, Tetsuo T; Toyoshima, Manabu M; Shimamoto, Chie C; Esaki, Kayoko K; Yamada, Kazuo K; Iwata, Yasuhide Y; Suzuki, Katsuaki K; Ide, Masayuki M; Ota, Motonori M; Fukuchi, Satoshi S; Tsujii, Masatsugu M; Mori, Norio N; Shinkai, Yoichi Y; Yoshikawa, Takeo T

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25400900

Variant Present in the following documents:

View BVdb publication page

---

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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

View BVdb publication page

---

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: N/A

PubMed Link: 25333361

Variant Present in the following documents:

View BVdb publication page

---

GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

Genes And Immunity

Armstrong, D L DL; Zidovetzki, R R; Alarcón-Riquelme, M E ME; Tsao, B P BP; Criswell, L A LA; Kimberly, R P RP; Harley, J B JB; Sivils, K L KL; Vyse, T J TJ; Gaffney, P M PM; Langefeld, C D CD; Jacob, C O CO

Publication Date: 2014-09

Variant appearance in text: rs535586

PubMed Link: 24871463

Variant Present in the following documents:

• NIHMS583203-supplement-1.pdf

View BVdb publication page

---

Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: rs535586

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

View BVdb publication page

---

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: N/A

PubMed Link: 24219164

Variant Present in the following documents:

View BVdb publication page

---

Dietary methyl donors, methyl metabolizing enzymes, and epigenetic regulators: diet-gene interactions and promoter CpG island hypermethylation in colorectal cancer.

Cancer Causes & Control : Ccc

de Vogel, Stefan S; Wouters, Kim A D KA; Gottschalk, Ralph W H RW; van Schooten, Frederik J FJ; de Goeij, Anton F P M AF; de Bruïne, Adriaan P AP; Goldbohm, R Alexandra RA; van den Brandt, Piet A PA; van Engeland, Manon M; Weijenberg, Matty P MP

Publication Date: 2011-01

Variant appearance in text: rs535586

PubMed Link: 20960050

Variant Present in the following documents:

• Main text
• 10552_2010_Article_9659.pdf

View BVdb publication page

---

Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Mavaddat, Nasim N; Dunning, Alison M AM; Ponder, Bruce A J BA; Easton, Douglas F DF; Pharoah, Paul D PD

Publication Date: 2009-01

Variant appearance in text: rs535586

PubMed Link: 19124506

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Association between common variation in 120 candidate genes and breast cancer risk.

Plos Genetics

Pharoah, Paul D P PD; Tyrer, Jonathan J; Dunning, Alison M AM; Easton, Douglas F DF; Ponder, Bruce A J BA; ,

Publication Date: 2007-03-16

Variant appearance in text: rs535586

PubMed Link: 17367212

Variant Present in the following documents:

View BVdb publication page

---