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
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29
Variant appearance in text: AXIN1: A609A; rs214252
Whole-genome profiling of nasopharyngeal carcinoma reveals viral-host co-operation in inflammatory NF-κB activation and immune escape.
Nature Communications
Bruce, Jeff P JP; To, Ka-Fai KF; Lui, Vivian W Y VWY; Chung, Grace T Y GTY; Chan, Yuk-Yu YY; Tsang, Chi Man CM; Yip, Kevin Y KY; Ma, Brigette B Y BBY; Woo, John K S JKS; Hui, Edwin P EP; Mak, Michael K F MKF; Lee, Sau-Dan SD; Chow, Chit C; Velapasamy, Sharmila S; Or, Yvonne Y Y YYY; Siu, Pui Kei PK; El Ghamrasni, Samah S; Prokopec, Stephenie S; Wu, Man M; Kwan, Johnny S H JSH; Liu, Yuchen Y; Chan, Jason Y K JYK; van Hasselt, C Andrew CA; Young, Lawrence S LS; Dawson, Christopher W CW; Paterson, Ian C IC; Yap, Lee-Fah LF; Tsao, Sai-Wah SW; Liu, Fei-Fei FF; Chan, Anthony T C ATC; Pugh, Trevor J TJ; Lo, Kwok-Wai KW
Publication Date: 2021-07-07
Variant appearance in text: AXIN1: 1827T>C; Ala609=; rs214252
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: AXIN1: A609A; rs214252
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Plos One
Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z
Bruse, Shannon S; Moreau, Michael M; Bromberg, Yana Y; Jang, Jun-Ho JH; Wang, Nan N; Ha, Hongseok H; Picchi, Maria M; Lin, Yong Y; Langley, Raymond J RJ; Qualls, Clifford C; Klensney-Tait, Julia J; Zabner, Joseph J; Leng, Shuguang S; Mao, Jenny J; Belinsky, Steven A SA; Xing, Jinchuan J; Nyunoya, Toru T
Publication Date: 2016-01-07
Variant appearance in text: AXIN1: A609A; rs214252
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: AXIN1: A609A; rs214252
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Nature Genetics
Estrada, Karol K; Styrkarsdottir, Unnur U; Evangelou, Evangelos E; Hsu, Yi-Hsiang YH; Duncan, Emma L EL; Ntzani, Evangelia E EE; Oei, Ling L; Albagha, Omar M E OM; Amin, Najaf N; Kemp, John P JP; Koller, Daniel L DL; Li, Guo G; Liu, Ching-Ti CT; Minster, Ryan L RL; Moayyeri, Alireza A; Vandenput, Liesbeth L; Willner, Dana D; Xiao, Su-Mei SM; Yerges-Armstrong, Laura M LM; Zheng, Hou-Feng HF; Alonso, Nerea N; Eriksson, Joel J; Kammerer, Candace M CM; Kaptoge, Stephen K SK; Leo, Paul J PJ; Thorleifsson, Gudmar G; Wilson, Scott G SG; Wilson, James F JF; Aalto, Ville V; Alen, Markku M; Aragaki, Aaron K AK; Aspelund, Thor T; Center, Jacqueline R JR; Dailiana, Zoe Z; Duggan, David J DJ; Garcia, Melissa M; Garcia-Giralt, Natàlia N; Giroux, Sylvie S; Hallmans, Göran G; Hocking, Lynne J LJ; Husted, Lise Bjerre LB; Jameson, Karen A KA; Khusainova, Rita R; Kim, Ghi Su GS; Kooperberg, Charles C; Koromila, Theodora T; Kruk, Marcin M; Laaksonen, Marika M; Lacroix, Andrea Z AZ; Lee, Seung Hun SH; Leung, Ping C PC; Lewis, Joshua R JR; Masi, Laura L; Mencej-Bedrac, Simona S; Nguyen, Tuan V TV; Nogues, Xavier X; Patel, Millan S MS; Prezelj, Janez J; Rose, Lynda M LM; Scollen, Serena S; Siggeirsdottir, Kristin K; Smith, Albert V AV; Svensson, Olle O; Trompet, Stella S; Trummer, Olivia O; van Schoor, Natasja M NM; Woo, Jean J; Zhu, Kun K; Balcells, Susana S; Brandi, Maria Luisa ML; Buckley, Brendan M BM; Cheng, Sulin S; Christiansen, Claus C; Cooper, Cyrus C; Dedoussis, George G; Ford, Ian I; Frost, Morten M; Goltzman, David D; González-Macías, Jesús J; Kähönen, Mika M; Karlsson, Magnus M; Khusnutdinova, Elza E; Koh, Jung-Min JM; Kollia, Panagoula P; Langdahl, Bente Lomholt BL; Leslie, William D WD; Lips, Paul P; Ljunggren, Östen Ö; Lorenc, Roman S RS; Marc, Janja J; Mellström, Dan D; Obermayer-Pietsch, Barbara B; Olmos, José M JM; Pettersson-Kymmer, Ulrika U; Reid, David M DM; Riancho, José A JA; Ridker, Paul M PM; Rousseau, François F; Slagboom, P Eline PE; Tang, Nelson L S NL; Urreizti, Roser R; Van Hul, Wim W; Viikari, Jorma J; Zarrabeitia, María T MT; Aulchenko, Yurii S YS; Castano-Betancourt, Martha M; Grundberg, Elin E; Herrera, Lizbeth L; Ingvarsson, Thorvaldur T; Johannsdottir, Hrefna H; Kwan, Tony T; Li, Rui R; Luben, Robert R; Medina-Gómez, Carolina C; Palsson, Stefan Th ST; Reppe, Sjur S; Rotter, Jerome I JI; Sigurdsson, Gunnar G; van Meurs, Joyce B J JB; Verlaan, Dominique D; Williams, Frances M K FM; Wood, Andrew R AR; Zhou, Yanhua Y; Gautvik, Kaare M KM; Pastinen, Tomi T; Raychaudhuri, Soumya S; Cauley, Jane A JA; Chasman, Daniel I DI; Clark, Graeme R GR; Cummings, Steven R SR; Danoy, Patrick P; Dennison, Elaine M EM; Eastell, Richard R; Eisman, John A JA; Gudnason, Vilmundur V; Hofman, Albert A; Jackson, Rebecca D RD; Jones, Graeme G; Jukema, J Wouter JW; Khaw, Kay-Tee KT; Lehtimäki, Terho T; Liu, Yongmei Y; Lorentzon, Mattias M; McCloskey, Eugene E; Mitchell, Braxton D BD; Nandakumar, Kannabiran K; Nicholson, Geoffrey C GC; Oostra, Ben A BA; Peacock, Munro M; Pols, Huibert A P HA; Prince, Richard L RL; Raitakari, Olli O; Reid, Ian R IR; Robbins, John J; Sambrook, Philip N PN; Sham, Pak Chung PC; Shuldiner, Alan R AR; Tylavsky, Frances A FA; van Duijn, Cornelia M CM; Wareham, Nick J NJ; Cupples, L Adrienne LA; Econs, Michael J MJ; Evans, David M DM; Harris, Tamara B TB; Kung, Annie Wai Chee AW; Psaty, Bruce M BM; Reeve, Jonathan J; Spector, Timothy D TD; Streeten, Elizabeth A EA; Zillikens, M Carola MC; Thorsteinsdottir, Unnur U; Ohlsson, Claes C; Karasik, David D; Richards, J Brent JB; Brown, Matthew A MA; Stefansson, Kari K; Uitterlinden, André G AG; Ralston, Stuart H SH; Ioannidis, John P A JP; Kiel, Douglas P DP; Rivadeneira, Fernando F