Publications:

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: PON1: N19D; rs141948033

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: PON1: N19D; rs141948033

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

Journal Of Neurology, Neurosurgery, And Psychiatry

Keogh, Michael J MJ; Wei, Wei W; Aryaman, Juvid J; Wilson, Ian I; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Jones, Nick N; Ironside, James W JW; Chinnery, Patrick F PF

Publication Date: 2018-08

Variant appearance in text: PON1: N19D

PubMed Link: 29332010

Variant Present in the following documents:

• jnnp-2017-317234supp001.pdf

View BVdb publication page

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A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Brain : A Journal Of Neurology

Morgan, Sarah S; Shatunov, Aleksey A; Sproviero, William W; Jones, Ashley R AR; Shoai, Maryam M; Hughes, Deborah D; Al Khleifat, Ahmad A; Malaspina, Andrea A; Morrison, Karen E KE; Shaw, Pamela J PJ; Shaw, Christopher E CE; Sidle, Katie K; Orrell, Richard W RW; Fratta, Pietro P; Hardy, John J; Pittman, Alan A; Al-Chalabi, Ammar A

Publication Date: 2017-06-01

Variant appearance in text: PON1: N19D; rs141948033

PubMed Link: 28430856

Variant Present in the following documents:

• awx082_Supp.pdf

View BVdb publication page

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Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma.

Scientific Reports

Vinayanuwattikun, Chanida C; Le Calvez-Kelm, Florence F; Abedi-Ardekani, Behnoush B; Zaridze, David D; Mukeria, Anush A; Voegele, Catherine C; Vallée, Maxime M; Purnomosari, Dewajani D; Forey, Nathalie N; Durand, Geoffroy G; Byrnes, Graham G; Mckay, James J; Brennan, Paul P; Scelo, Ghislaine G

Publication Date: 2016-08-22

Variant appearance in text: PON1: N19D

PubMed Link: 27545006

Variant Present in the following documents:

• srep31628-s2.xls, sheet 2

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: PON1: N19D; rs141948033

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL.

Journal Of Lipid Research

Kim, Daniel S DS; Burt, Amber A AA; Crosslin, David R DR; Robertson, Peggy D PD; Ranchalis, Jane E JE; Boyko, Edward J EJ; Nickerson, Deborah A DA; Furlong, Clement E CE; Jarvik, Gail P GP

Publication Date: 2013-02

Variant appearance in text: PON: Asn19Asp

PubMed Link: 23160181

Variant Present in the following documents:

• Main text

View BVdb publication page

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Paraoxonase gene mutations in amyotrophic lateral sclerosis.

Annals Of Neurology

Ticozzi, Nicola N; LeClerc, Ashley Lyn AL; Keagle, Pamela J PJ; Glass, Jonathan D JD; Wills, Anne-Marie AM; van Blitterswijk, Marka M; Bosco, Daryl A DA; Rodriguez-Leyva, Ildefonso I; Gellera, Cinzia C; Ratti, Antonia A; Taroni, Franco F; McKenna-Yasek, Diane D; Sapp, Peter C PC; Silani, Vincenzo V; Furlong, Clement E CE; Brown, Robert H RH; Landers, John E JE

Publication Date: 2010-07

Variant appearance in text: PON: 55A>G

PubMed Link: 20582942

Variant Present in the following documents:

• Main text

View BVdb publication page

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