Publications:

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: ACOXL: 764C>T; Thr255Met

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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: ACOXL: T255M

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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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: ACOXL: 764C>T; Thr255Met; rs1554005

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.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: ACOXL: 764C>T; T255M; rs1554005

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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IgA Levels Are Associated with Coronary Artery Lesions in Kawasaki Disease.

Korean Circulation Journal

Kim, Jae Jung JJ; Kim, Hea Ji HJ; Yu, Jeong Jin JJ; Yun, Sin Weon SW; Lee, Kyung Yil KY; Yoon, Kyung Lim KL; Kil, Hong Ryang HR; Kim, Gi Beom GB; Han, Myung Ki MK; Song, Min Seob MS; Lee, Hyoung Doo HD; Jun, Hyun Ok HO; Ha, Kee Soo KS; Hong, Young Mi YM; Jang, Gi Young GY; Lee, Jong Keuk JK; ,

Publication Date: 2021-03

Variant appearance in text: rs1554005

PubMed Link: 33655727

Variant Present in the following documents:

• Main text
• kcj-51-267.pdf

View BVdb publication page

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The Co-existence of ADHD With Autism in Saudi Children: An Analysis Using Next-Generation DNA Sequencing.

Frontiers In Genetics

Bogari, Neda M NM; Al-Allaf, Faisal A FA; Aljohani, Ashwag A; Taher, Mohiuddin M MM; Qutub, Nermeen A NA; Alhelfawi, Suhair S; Alobaidi, Amal A; Alqudah, Derar M DM; Banni, Hussain H; Dairi, Ghida G; Amin, Amr A AA

Publication Date: 2020

Variant appearance in text: ACOXL: 764C>T; Thr255Met; rs1554005

PubMed Link: 33384710

Variant Present in the following documents:

• Main text

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: ACOXL: T255M; rs1554005

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: ACOXL: T255M

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.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: ACOXL: T255M; rs1554005

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

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: ACOXL: 764C>T; Thr255Met; rs1554005

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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: ACOXL: T255M; rs1554005

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.

Oncotarget

Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X

Publication Date: 2017-04-04

Variant appearance in text: ACOXL: T255M; rs1554005

PubMed Link: 28009986

Variant Present in the following documents:

• oncotarget-08-22741-s003.xlsx, sheet 1

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: ACOXL: T255M; rs1554005

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, 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: rs1554005

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: ACOXL: T255M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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: ACOXL: T255M; rs1554005

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs1554005

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.xls, sheet 1

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: ACOXL: T255M; rs1554005

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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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: ACOXL: T255M; rs1554005

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.

Nature Genetics

Berndt, Sonja I SI; Skibola, Christine F CF; Joseph, Vijai V; Camp, Nicola J NJ; Nieters, Alexandra A; Wang, Zhaoming Z; Cozen, Wendy W; Monnereau, Alain A; Wang, Sophia S SS; Kelly, Rachel S RS; Lan, Qing Q; Teras, Lauren R LR; Chatterjee, Nilanjan N; Chung, Charles C CC; Yeager, Meredith M; Brooks-Wilson, Angela R AR; Hartge, Patricia P; Purdue, Mark P MP; Birmann, Brenda M BM; Armstrong, Bruce K BK; Cocco, Pierluigi P; Zhang, Yawei Y; Severi, Gianluca G; Zeleniuch-Jacquotte, Anne A; Lawrence, Charles C; Burdette, Laurie L; Yuenger, Jeffrey J; Hutchinson, Amy A; Jacobs, Kevin B KB; Call, Timothy G TG; Shanafelt, Tait D TD; Novak, Anne J AJ; Kay, Neil E NE; Liebow, Mark M; Wang, Alice H AH; Smedby, Karin E KE; Adami, Hans-Olov HO; Melbye, Mads M; Glimelius, Bengt B; Chang, Ellen T ET; Glenn, Martha M; Curtin, Karen K; Cannon-Albright, Lisa A LA; Jones, Brandt B; Diver, W Ryan WR; Link, Brian K BK; Weiner, George J GJ; Conde, Lucia L; Bracci, Paige M PM; Riby, Jacques J; Holly, Elizabeth A EA; Smith, Martyn T MT; Jackson, Rebecca D RD; Tinker, Lesley F LF; Benavente, Yolanda Y; Becker, Nikolaus N; Boffetta, Paolo P; Brennan, Paul P; Foretova, Lenka L; Maynadie, Marc M; McKay, James J; Staines, Anthony A; Rabe, Kari G KG; Achenbach, Sara J SJ; Vachon, Celine M CM; Goldin, Lynn R LR; Strom, Sara S SS; Lanasa, Mark C MC; Spector, Logan G LG; Leis, Jose F JF; Cunningham, Julie M JM; Weinberg, J Brice JB; Morrison, Vicki A VA; Caporaso, Neil E NE; Norman, Aaron D AD; Linet, Martha S MS; De Roos, Anneclaire J AJ; Morton, Lindsay M LM; Severson, Richard K RK; Riboli, Elio E; Vineis, Paolo P; Kaaks, Rudolph R; Trichopoulos, Dimitrios D; Masala, Giovanna G; Weiderpass, Elisabete E; Chirlaque, María-Dolores MD; Vermeulen, Roel C H RC; Travis, Ruth C RC; Giles, Graham G GG; Albanes, Demetrius D; Virtamo, Jarmo J; Weinstein, Stephanie S; Clavel, Jacqueline J; Zheng, Tongzhang T; Holford, Theodore R TR; Offit, Kenneth K; Zelenetz, Andrew A; Klein, Robert J RJ; Spinelli, John J JJ; Bertrand, Kimberly A KA; Laden, Francine F; Giovannucci, Edward E; Kraft, Peter P; Kricker, Anne A; Turner, Jenny J; Vajdic, Claire M CM; Ennas, Maria Grazia MG; Ferri, Giovanni M GM; Miligi, Lucia L; Liang, Liming L; Sampson, Joshua J; Crouch, Simon S; Park, Ju-Hyun JH; North, Kari E KE; Cox, Angela A; Snowden, John A JA; Wright, Josh J; Carracedo, Angel A; Lopez-Otin, Carlos C; Bea, Silvia S; Salaverria, Itziar I; Martin-Garcia, David D; Campo, Elias E; Fraumeni, Joseph F JF; de Sanjose, Silvia S; Hjalgrim, Henrik H; Cerhan, James R JR; Chanock, Stephen J SJ; Rothman, Nathaniel N; Slager, Susan L SL

Publication Date: 2013-08

Variant appearance in text: rs1554005

PubMed Link: 23770605

Variant Present in the following documents:

• Main text

View BVdb publication page

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