Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease.
Nature Communications
Young, William J WJ; Haessler, Jeffrey J; Benjamins, Jan-Walter JW; Repetto, Linda L; Yao, Jie J; Isaacs, Aaron A; Harper, Andrew R AR; Ramirez, Julia J; Garnier, Sophie S; van Duijvenboden, Stefan S; Baldassari, Antoine R AR; Concas, Maria Pina MP; Duong, ThuyVy T; Foco, Luisa L; Isaksen, Jonas L JL; Mei, Hao H; Noordam, Raymond R; Nursyifa, Casia C; Richmond, Anne A; Santolalla, Meddly L ML; Sitlani, Colleen M CM; Soroush, Negin N; Thériault, Sébastien S; Trompet, Stella S; Aeschbacher, Stefanie S; Ahmadizar, Fariba F; Alonso, Alvaro A; Brody, Jennifer A JA; Campbell, Archie A; Correa, Adolfo A; Darbar, Dawood D; De Luca, Antonio A; Deleuze, Jean-François JF; Ellervik, Christina C; Fuchsberger, Christian C; Goel, Anuj A; Grace, Christopher C; Guo, Xiuqing X; Hansen, Torben T; Heckbert, Susan R SR; Jackson, Rebecca D RD; Kors, Jan A JA; Lima-Costa, Maria Fernanda MF; Linneberg, Allan A; Macfarlane, Peter W PW; Morrison, Alanna C AC; Navarro, Pau P; Porteous, David J DJ; Pramstaller, Peter P PP; Reiner, Alexander P AP; Risch, Lorenz L; Schotten, Ulrich U; Shen, Xia X; Sinagra, Gianfranco G; Soliman, Elsayed Z EZ; Stoll, Monika M; Tarazona-Santos, Eduardo E; Tinker, Andrew A; Trajanoska, Katerina K; Villard, Eric E; Warren, Helen R HR; Whitsel, Eric A EA; Wiggins, Kerri L KL; Arking, Dan E DE; Avery, Christy L CL; Conen, David D; Girotto, Giorgia G; Grarup, Niels N; Hayward, Caroline C; Jukema, J Wouter JW; Mook-Kanamori, Dennis O DO; Olesen, Morten Salling MS; Padmanabhan, Sandosh S; Psaty, Bruce M BM; Pattaro, Cristian C; Ribeiro, Antonio Luiz P ALP; Rotter, Jerome I JI; Stricker, Bruno H BH; van der Harst, Pim P; van Duijn, Cornelia M CM; Verweij, Niek N; Wilson, James G JG; Orini, Michele M; Charron, Philippe P; Watkins, Hugh H; Kooperberg, Charles C; Lin, Henry J HJ; Wilson, James F JF; Kanters, Jørgen K JK; Sotoodehnia, Nona N; Mifsud, Borbala B; Lambiase, Pier D PD; Tereshchenko, Larisa G LG; Munroe, Patricia B PB
Publication Date: 2023-03-14
Variant appearance in text: SPPL2C: 1928C>G; Pro643Arg; rs12373142
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
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: SPPL2C: P643R; rs12373142
Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15
Variant appearance in text: SPPL2C: P643R; rs12373142
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: SPPL2C: 1928C>G; P643R; rs12373142
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Screening non-MAPT genes of the Chr17q21 H1 haplotype in Parkinson's disease.
Parkinsonism & Related Disorders
Soto-Beasley, Alexandra I AI; Walton, Ronald L RL; Valentino, Rebecca R RR; Hook, Paul W PW; Labbé, Catherine C; Heckman, Michael G MG; Johnson, Patrick W PW; Goff, Loyal A LA; Uitti, Ryan J RJ; McLean, Pamela J PJ; Springer, Wolfdieter W; McCallion, Andrew S AS; Wszolek, Zbigniew K ZK; Ross, Owen A OA
Publication Date: 2020-09
Variant appearance in text: SPPL2C: P643R; rs12373142
Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.
Plos One
Kim, Stuart K SK
Publication Date: 2018
Variant appearance in text: SPPL2C: P643R; rs12373142
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
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: SPPL2C: P643R; rs12373142