Publications:

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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: CYP4F12: P460P; rs688755

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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SLC7A8 coding for LAT2 is associated with early disease progression in osteosarcoma and transports doxorubicin.

Frontiers In Pharmacology

Hurkmans, Evelien G E EGE; Koenderink, Jan B JB; van den Heuvel, Jeroen J M W JJMW; Versleijen-Jonkers, Yvonne M H YMH; Hillebrandt-Roeffen, Melissa H S MHS; Groothuismink, Johanne M JM; Vos, Hanneke I HI; van der Graaf, Winette T A WTA; Flucke, Uta U; Muradjan, Grigor G; Schreuder, Hendrik W B HWB; Hagleitner, Melanie M MM; Brunner, Han G HG; Gelderblom, Hans H; Cleton-Jansen, Anne-Marie AM; Guchelaar, Henk-Jan HJ; de Bont, Eveline S J M ESJM; Touw, Daan J DJ; Nijhoff, G Jan GJ; Kremer, Leontien C M LCM; Caron, Huib H; Windsor, Rachael R; Patiño-García, Ana A; González-Neira, Anna A; Saletta, Federica F; McCowage, Geoff G; Nagabushan, Sumanth S; Catchpoole, Daniel D; Te Loo, D Maroeska W M DMWM; Coenen, Marieke J H MJH

Publication Date: 2022

Variant appearance in text: rs688755

PubMed Link: 36438828

Variant Present in the following documents:

• Main text
• fphar-13-1042989.pdf

View BVdb publication page

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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: CYP4F12: 1380T>C; Pro460=

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Epidemiological characteristics and genetic alterations in adult diffuse glioma in East Asian populations.

Cancer Biology & Medicine

Mo, Zongchao Z; Xin, Junyi J; Chai, Ruichao R; Woo, Peter Y M PYM; Chan, Danny T M DTM; Wang, Jiguang J

Publication Date: 2022-11-01

Variant appearance in text: rs688755

PubMed Link: 36350002

Variant Present in the following documents:

• Main text
• cbm-19-1440.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: CYP4F12: P460P

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

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: CYP4F12: P460P; rs688755

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, 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: CYP4F12: Pro460Pro; rs688755

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: rs688755

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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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: CYP4F12: P460P; rs688755

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_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: rs688755

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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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: CYP4F12: P460P; rs688755

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

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: rs688755

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, 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: CYP4F12: P460P; rs688755

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs688755

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Inflammation in the setting of chronic allograft dysfunction post-kidney transplant: phenotype and genotype.

Clinical Transplantation

Israni, Ajay K AK; Leduc, Robert R; Jacobson, Pamala A PA; Wildebush, Winston W; Guan, Weihua W; Schladt, David D; Matas, Arthur J AJ; Oetting, William S WS; ,

Publication Date: 2013

Variant appearance in text: rs688755

PubMed Link: 23350966

Variant Present in the following documents:

• Main text

View BVdb publication page

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