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: MTHFR: P39P; rs2066470
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
Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.
Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Prioritizing individual genetic variants after kernel machine testing using variable selection.
Genetic Epidemiology
He, Qianchuan Q; Cai, Tianxi T; Liu, Yang Y; Zhao, Ni N; Harmon, Quaker E QE; Almli, Lynn M LM; Binder, Elisabeth B EB; Engel, Stephanie M SM; Ressler, Kerry J KJ; Conneely, Karen N KN; Lin, Xihong X; Wu, Michael C MC
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.
Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
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
Gene polymorphisms in association with self-reported stroke in US adults.
The Application Of Clinical Genetics
Fan, Amy Z AZ; Fang, Jing J; Yesupriya, Ajay A; Chang, Man-Huei MH; Kilmer, Greta G; House, Meaghan M; Hayes, Donald D; Ned, Renée M RM; Dowling, Nicole F NF; Mokdad, Ali H AH
Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients.
Plos One
Spellicy, Catherine J CJ; Northrup, Hope H; Fletcher, Jack M JM; Cirino, Paul T PT; Dennis, Maureen M; Morrison, Alanna C AC; Martinez, Carla A CA; Au, Kit Sing KS
A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.
Plos One
Marini, Nicholas J NJ; Hoffmann, Thomas J TJ; Lammer, Edward J EJ; Hardin, Jill J; Lazaruk, Katherine K; Stein, Jason B JB; Gilbert, Dennis A DA; Wright, Crystal C; Lipzen, Anna A; Pennacchio, Len A LA; Carmichael, Suzan L SL; Witte, John S JS; Shaw, Gary M GM; Rine, Jasper J
Large-scale candidate gene analysis in whites and African Americans identifies IL6R polymorphism in relation to atrial fibrillation: the National Heart, Lung, and Blood Institute's Candidate Gene Association Resource (CARe) project.
Circulation. Cardiovascular Genetics
Schnabel, Renate B RB; Kerr, Kathleen F KF; Lubitz, Steven A SA; Alkylbekova, Ermeg L EL; Marcus, Gregory M GM; Sinner, Moritz F MF; Magnani, Jared W JW; Wolf, Philip A PA; Deo, Rajat R; Lloyd-Jones, Donald M DM; Lunetta, Kathryn L KL; Mehra, Reena R; Levy, Daniel D; Fox, Ervin R ER; Arking, Dan E DE; Mosley, Thomas H TH; Müller-Nurasyid, Martina M; Young, Taylor R TR; Wichmann, H-Erich HE; Seshadri, Sudha S; Farlow, Deborah N DN; Rotter, Jerome I JI; Soliman, Elsayed Z EZ; Glazer, Nicole L NL; Wilson, James G JG; Breteler, Monique M B MM; Sotoodehnia, Nona N; Newton-Cheh, Christopher C; Kääb, Stefan S; Ellinor, Patrick T PT; Alonso, Alvaro A; Benjamin, Emelia J EJ; Heckbert, Susan R SR; ,
Gene polymorphisms in association with emerging cardiovascular risk markers in adult women.
Bmc Medical Genetics
Fan, Amy Z AZ; Yesupriya, Ajay A; Chang, Man-huei MH; House, Meaghan M; Fang, Jing J; Ned, Renée R; Hayes, Donald D; Dowling, Nicole F NF; Mokdad, Ali H AH
Association analyses suggest multiple interaction effects of the methylenetetrahydrofolate reductase polymorphisms on timing of menarche and natural menopause in white women.
Menopause (New York, N.Y.)
Liu, Pengyuan P; Lu, Yan Y; Recker, Robert R RR; Deng, Hong-Wen HW; Dvornyk, Volodymyr V
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
Bmc Medical Genetics
Shaw, Gary M GM; Lu, Wei W; Zhu, Huiping H; Yang, Wei W; Briggs, Farren B S FB; Carmichael, Suzan L SL; Barcellos, Lisa F LF; Lammer, Edward J EJ; Finnell, Richard H RH
No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Stevens, Victoria L VL; Rodriguez, Carmen C; Sun, Juzhong J; Talbot, Jeffrey T JT; Thun, Michael J MJ; Calle, Eugenia E EE
A simple and accurate SNP scoring strategy based on typeIIS restriction endonuclease cleavage and matrix-assisted laser desorption/ionization mass spectrometry.
Bmc Genomics
Hong, Sun Pyo SP; Ji, Seung Il SI; Rhee, Hwanseok H; Shin, Soo Kyeong SK; Hwang, Sun Young SY; Lee, Seung Hwan SH; Lee, Soong Deok SD; Oh, Heung-Bum HB; Yoo, Wangdon W; Kim, Soo-Ok SO