Publications:

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: ADH4: I309V; rs1126671

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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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: ADH4: I309V; rs1126671

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Genome-wide analyses identify novel risk loci for cluster headache in Han Chinese residing in Taiwan.

The Journal Of Headache And Pain

Chen, Shih-Pin SP; Hsu, Chia-Lin CL; Wang, Yen-Feng YF; Yang, Fu-Chi FC; Chen, Ting-Huei TH; Huang, Jia-Hsin JH; Pan, Li-Ling Hope LH; Fuh, Jong-Ling JL; Chang, Hsueh-Chen HC; Lee, Yi-Lun YL; Chang, Hung-Ching HC; Lee, Ko-Han KH; Chang, Yu-Chuan YC; Fann, Cathy Shen-Jang CS; Wang, Shuu-Jiun SJ

Publication Date: 2022-11-21

Variant appearance in text: rs1126671

PubMed Link: 36404298

Variant Present in the following documents:

• 10194_2022_Article_1517.pdf

View BVdb publication page

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Whole-Exome Sequencing Reveals Migraine-Associated Novel Functional Variants in Arab Ancestry Females: A Pilot Study.

Brain Sciences

Khan, Johra J; Al Asoom, Lubna L; Al Sunni, Ahmad A; Rafique, Nazish N; Latif, Rabia R; Alabdali, Majed M; Alhariri, Azhar A; Aloqaily, Majed M; AbdulAzeez, Sayed S; Jahan, Sadaf S; Banawas, Saeed S; Borgio, J Francis JF

Publication Date: 2022-10-24

Variant appearance in text: ADH4: I309V; rs1126671

PubMed Link: 36358356

Variant Present in the following documents:

• brainsci-12-01429.pdf

View BVdb publication page

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Machine Learning for the Identification of a Common Signature for Anti-SSA/Ro 60 Antibody Expression Across Autoimmune Diseases.

Arthritis & Rheumatology (Hoboken, N.J.)

Foulquier, Nathan N; Le Dantec, Christelle C; Bettacchioli, Eleonore E; Jamin, Christophe C; Alarcón-Riquelme, Marta E ME; Pers, Jacques-Olivier JO

Publication Date: 2022-10

Variant appearance in text: rs1126671

PubMed Link: 35635731

Variant Present in the following documents:

• ART-74-1706-s013.pdf

View BVdb publication page

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Genetic overlap between temporomandibular disorders and primary headaches: A systematic review.

The Japanese Dental Science Review

Cruz, Diogo D; Monteiro, Francisca F; Paço, Maria M; Vaz-Silva, Manuel M; Lemos, Carolina C; Alves-Ferreira, Miguel M; Pinho, Teresa T

Publication Date: 2022-11

Variant appearance in text: rs1126671

PubMed Link: 35242249

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Are there non-linear relationships between alcohol consumption and long-term health?: a systematic review of observational studies employing approaches to improve causal inference.

Bmc Medical Research Methodology

Visontay, Rachel R; Sunderland, Matthew M; Slade, Tim T; Wilson, Jack J; Mewton, Louise L

Publication Date: 2022-01-14

Variant appearance in text: rs1126671

PubMed Link: 35027007

Variant Present in the following documents:

• Main text
• 12874_2021_Article_1486.pdf

View BVdb publication page

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Are there non-linear relationships between alcohol consumption and long-term health?: a systematic review of observational studies employing approaches to improve causal inference.

Bmc Medical Research Methodology

Visontay, Rachel R; Sunderland, Matthew M; Slade, Tim T; Wilson, Jack J; Mewton, Louise L

Publication Date: 2022-01-14

Variant appearance in text: rs1126671

PubMed Link: 35027007

Variant Present in the following documents:

• Main text
• 12874_2021_Article_1486.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: ADH4: I309V; rs1126671

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: ADH4: I309V; rs1126671

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: rs1126671

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Pathogenesis and Molecular Mechanisms of Anderson-Fabry Disease and Possible New Molecular Addressed Therapeutic Strategies.

International Journal Of Molecular Sciences

Tuttolomondo, Antonino A; Simonetta, Irene I; Riolo, Renata R; Todaro, Federica F; Di Chiara, Tiziana T; Miceli, Salvatore S; Pinto, Antonio A

Publication Date: 2021-09-18

Variant appearance in text: rs1126671

PubMed Link: 34576250

Variant Present in the following documents:

• Main text
• ijms-22-10088.pdf

View BVdb publication page

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Alcohol consumption in relation to cardiovascular diseases and mortality: a systematic review of Mendelian randomization studies.

European Journal Of Epidemiology

van de Luitgaarden, Inge A T IAT; van Oort, Sabine S; Bouman, Emma J EJ; Schoonmade, Linda J LJ; Schrieks, Ilse C IC; Grobbee, Diederick E DE; van der Schouw, Yvonne T YT; Larsson, Susanna C SC; Burgess, Stephen S; van Ballegooijen, Adriana J AJ; Onland-Moret, N Charlotte NC; Beulens, Joline W J JWJ

Publication Date: 2022-07

Variant appearance in text: rs1126671

PubMed Link: 34420153

Variant Present in the following documents:

• Main text
• 10654_2021_Article_799.pdf

View BVdb publication page

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Genetic Susceptibility Loci in Genomewide Association Study of Cluster Headache.

Annals Of Neurology

Harder, Aster V E AVE; Winsvold, Bendik S BS; Noordam, Raymond R; Vijfhuizen, Lisanne S LS; Børte, Sigrid S; Kogelman, Lisette J A LJA; de Boer, Irene I; Tronvik, Erling E; Rosendaal, Frits R FR; Willems van Dijk, Ko K; O'Connor, Emer E; Fourier, Carmen C; Thomas, Laurent F LF; Kristoffersen, Espen S ES; , ; Fronczek, Rolf R; Pozo-Rosich, Patricia P; Jensen, Rigmor H RH; Ferrari, Michel D MD; Hansen, Thomas F TF; Zwart, John-Anker JA; Terwindt, Gisela M GM; van den Maagdenberg, Arn M J M AMJM

Publication Date: 2021-08

Variant appearance in text: rs1126671

PubMed Link: 34180076

Variant Present in the following documents:

• Main text

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: ADH4: 925A>G; I309V; rs1126671

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: ADH4: I309V; rs1126671

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: ADH4: 925A>G; I309V; rs1126671

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: ADH4: 925A>G; I309V; rs1126671

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Biomarkers of Fabry Nephropathy: Review and Future Perspective.

Genes

Levstek, Tina T; Vujkovac, Bojan B; Trebusak Podkrajsek, Katarina K

Publication Date: 2020-09-18

Variant appearance in text: rs1126671

PubMed Link: 32962051

Variant Present in the following documents:

• Main text
• genes-11-01091.pdf

View BVdb publication page

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Genome-wide pQTL analysis of protein expression regulatory networks in the human liver.

Bmc Biology

He, Bing B; Shi, Jian J; Wang, Xinwen X; Jiang, Hui H; Zhu, Hao-Jie HJ

Publication Date: 2020-08-10

Variant appearance in text: rs1126671

PubMed Link: 32778093

Variant Present in the following documents:

• Main text
• 12915_2020_Article_830.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: ADH4: I309V; rs1126671

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer

Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H

Publication Date: 2020-05

Variant appearance in text: ADH4: 925A>G; I309V; rs1126671

PubMed Link: 32457125

Variant Present in the following documents:

• jitc-2019-000204supp003.xlsx, sheet 3

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1126671

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: ADH4: I309V

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic variation in alcohol dehydrogenase is associated with neurocognition in men with HIV and history of alcohol use disorder: preliminary findings.

Journal Of Neurovirology

Saloner, Rowan R; Paolillo, Emily W EW; Kohli, Maulika M; Murray, Sarah S SS; Moore, David J DJ; Grant, Igor I; Cherner, Mariana M

Publication Date: 2020-04

Variant appearance in text: rs1126671

PubMed Link: 31933193

Variant Present in the following documents:

• Main text

View BVdb publication page

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No genetic evidence for involvement of alcohol dehydrogenase genes in risk for Parkinson's disease.

Neurobiology Of Aging

Kim, Jonggeol Jeffrey JJ; Bandres-Ciga, Sara S; Blauwendraat, Cornelis C; , ; Gan-Or, Ziv Z

Publication Date: 2020-03

Variant appearance in text: rs1126671

PubMed Link: 31806158

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: ADH4: I309V; rs1126671

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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In-depth human plasma proteome analysis captures tissue proteins and transfer of protein variants across the placenta.

Elife

Pernemalm, Maria M; Sandberg, AnnSofi A; Zhu, Yafeng Y; Boekel, Jorrit J; Tamburro, Davide D; Schwenk, Jochen M JM; Björk, Albin A; Wahren-Herlenius, Marie M; Åmark, Hanna H; Östenson, Claes-Göran CG; Westgren, Magnus M; Lehtiö, Janne J

Publication Date: 2019-04-08

Variant appearance in text: ADH4: 925A>G; I309V; rs1126671

PubMed Link: 30958262

Variant Present in the following documents:

• elife-41608-supp9.xlsx, sheet 1

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: ADH4: I309V; rs1126671

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs1126671

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

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: rs1126671

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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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: ADH4: I309V; rs1126671

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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Alcohol Dehydrogenases, Aldehyde Dehydrogenases, and Alcohol Use Disorders: A Critical Review.

Alcoholism, Clinical And Experimental Research

Edenberg, Howard J HJ; McClintick, Jeanette N JN

Publication Date: 2018-12

Variant appearance in text: ADH4: Ile309Val; rs1126671

PubMed Link: 30320893

Variant Present in the following documents:

• Main text

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: ADH4: 925A>G; Ile309Val; rs1126671

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Novel human genome variants associated with alcohol use disorders identified in a Lithuanian cohort.

Acta Medica Lituanica

Baronas, Karolis K; Rančelis, Tautvydas T; Pranculis, Aidas A; Domarkienė, Ingrida I; Ambrozaitytė, Laima L; Kučinskas, Vaidutis V

Publication Date: 2018

Variant appearance in text: ADH4: 925A>G; rs1126671

PubMed Link: 29928152

Variant Present in the following documents:

• Main text
• aml-25-007.pdf

View BVdb publication page

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Distinct Prognostic Values of Alcohol Dehydrogenase Family Members for Non-Small Cell Lung Cancer.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Wang, Peng P; Zhang, Linbo L; Huang, Chunxia C; Huang, Ping P; Zhang, Jianquan J

Publication Date: 2018-05-29

Variant appearance in text: rs1126671

PubMed Link: 29808834

Variant Present in the following documents:

• Main text
• medscimonit-24-3578.pdf

View BVdb publication page

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Genetic association of HCRTR2, ADH4 and CLOCK genes with cluster headache: a Chinese population-based case-control study.

The Journal Of Headache And Pain

Fan, Zhiliang Z; Hou, Lei L; Wan, Dongjun D; Ao, Ran R; Zhao, Dengfa D; Yu, Shengyuan S

Publication Date: 2018-01-09

Variant appearance in text: rs1126671

PubMed Link: 29318394

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants associated with Fabry disease progression despite enzyme replacement therapy.

Oncotarget

Scionti, Francesca F; Di Martino, Maria Teresa MT; Sestito, Simona S; Nicoletti, Angela A; Falvo, Francesca F; Roppa, Katia K; Arbitrio, Mariamena M; Guzzi, Pietro Hiram PH; Agapito, Giuseppe G; Pisani, Antonio A; Riccio, Eleonora E; Concolino, Daniela D; Pensabene, Licia L

Publication Date: 2017-12-08

Variant appearance in text: rs1126671

PubMed Link: 29296186

Variant Present in the following documents:

• Main text
• oncotarget-08-107558.pdf

View BVdb publication page

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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: ADH4: I309V; rs1126671

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

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: rs1126671

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Association of Polymorphisms in Pharmacogenetic Candidate Genes with Propofol Susceptibility.

Scientific Reports

Zhong, Qi Q; Chen, Xiangdong X; Zhao, Yan Y; Liu, Ru R; Yao, Shanglong S

Publication Date: 2017-06-13

Variant appearance in text: rs1126671

PubMed Link: 28611364

Variant Present in the following documents:

• Main text
• 41598_2017_Article_3229.pdf

View BVdb publication page

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Associations between alcohol dehydrogenase genes and alcohol use across early and middle adolescence: Moderation × Preventive intervention.

Development And Psychopathology

Cleveland, H Harrington HH; Schlomer, Gabriel L GL; Vandenbergh, David J DJ; Wolf, Pedro S A PSA; Feinberg, Mark E ME; Greenberg, Mark T MT; Spoth, Richard L RL; Redmond, Cleve C

Publication Date: 2018-02

Variant appearance in text: rs1126671

PubMed Link: 28534462

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants.

The Journal Of Headache And Pain

Bacchelli, Elena E; Cainazzo, Maria Michela MM; Cameli, Cinzia C; Guerzoni, Simona S; Martinelli, Angela A; Zoli, Michele M; Maestrini, Elena E; Pini, Luigi Alberto LA

Publication Date: 2016-12

Variant appearance in text: rs1126671

PubMed Link: 27957625

Variant Present in the following documents:

• Main text
• 10194_2016_Article_705.pdf

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: ADH4: I309V; rs1126671

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr

Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA

Publication Date: 2016-06-23

Variant appearance in text: ADH4: I309V

PubMed Link: 27334989

Variant Present in the following documents:

• 13058_2016_727_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,

Publication Date: 2016-06-02

Variant appearance in text: ADH4: I309V; rs1126671

PubMed Link: 27251275

Variant Present in the following documents:

• NIHMS778057-supplement-supp_table5.xlsx, sheet 2

View BVdb publication page

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Screening of Two ADH4 Variations in a Swedish Cluster Headache Case-Control Material.

Headache

Fourier, Carmen C; Ran, Caroline C; Steinberg, Anna A; Sjöstrand, Christina C; Waldenlind, Elisabet E; Carmine Belin, Andrea A

Publication Date: 2016-05

Variant appearance in text: rs1126671

PubMed Link: 27041676

Variant Present in the following documents:

• Main text

View BVdb publication page

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Causal Role of Alcohol Consumption in an Improved Lipid Profile: The Atherosclerosis Risk in Communities (ARIC) Study.

Plos One

Vu, Khanh N KN; Ballantyne, Christie M CM; Hoogeveen, Ron C RC; Nambi, Vijay V; Volcik, Kelly A KA; Boerwinkle, Eric E; Morrison, Alanna C AC

Publication Date: 2016

Variant appearance in text: rs1126671

PubMed Link: 26849558

Variant Present in the following documents:

• Main text
• pone.0148765.pdf

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: rs1126671

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: ADH4: I309V; rs1126671

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

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: ADH4: I309V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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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: ADH4: I309V; rs1126671

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: ADH4: I309V; rs1126671

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs1126671

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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