A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Nature Genetics
Holstege, Henne H; Hulsman, Marc M; Charbonnier, Camille C; Grenier-Boley, Benjamin B; Quenez, Olivier O; Grozeva, Detelina D; van Rooij, Jeroen G J JGJ; Sims, Rebecca R; Ahmad, Shahzad S; Amin, Najaf N; Norsworthy, Penny J PJ; Dols-Icardo, Oriol O; Hummerich, Holger H; Kawalia, Amit A; Amouyel, Philippe P; Beecham, Gary W GW; Berr, Claudine C; Bis, Joshua C JC; Boland, Anne A; Bossù, Paola P; Bouwman, Femke F; Bras, Jose J; Campion, Dominique D; Cochran, J Nicholas JN; Daniele, Antonio A; Dartigues, Jean-François JF; Debette, Stéphanie S; Deleuze, Jean-François JF; Denning, Nicola N; DeStefano, Anita L AL; Farrer, Lindsay A LA; Fernández, Maria Victoria MV; Fox, Nick C NC; Galimberti, Daniela D; Genin, Emmanuelle E; Gille, Johan J P JJP; Le Guen, Yann Y; Guerreiro, Rita R; Haines, Jonathan L JL; Holmes, Clive C; Ikram, M Arfan MA; Ikram, M Kamran MK; Jansen, Iris E IE; Kraaij, Robert R; Lathrop, Marc M; Lemstra, Afina W AW; Lleó, Alberto A; Luckcuck, Lauren L; Mannens, Marcel M A M MMAM; Marshall, Rachel R; Martin, Eden R ER; Masullo, Carlo C; Mayeux, Richard R; Mecocci, Patrizia P; Meggy, Alun A; Mol, Merel O MO; Morgan, Kevin K; Myers, Richard M RM; Nacmias, Benedetta B; Naj, Adam C AC; Napolioni, Valerio V; Pasquier, Florence F; Pastor, Pau P; Pericak-Vance, Margaret A MA; Raybould, Rachel R; Redon, Richard R; Reinders, Marcel J T MJT; Richard, Anne-Claire AC; Riedel-Heller, Steffi G SG; Rivadeneira, Fernando F; Rousseau, Stéphane S; Ryan, Natalie S NS; Saad, Salha S; Sanchez-Juan, Pascual P; Schellenberg, Gerard D GD; Scheltens, Philip P; Schott, Jonathan M JM; Seripa, Davide D; Seshadri, Sudha S; Sie, Daoud D; Sistermans, Erik A EA; Sorbi, Sandro S; van Spaendonk, Resie R; Spalletta, Gianfranco G; Tesi, Niccolo' N; Tijms, Betty B; Uitterlinden, André G AG; van der Lee, Sven J SJ; Visser, Pieter Jelle PJ; Wagner, Michael M; Wallon, David D; Wang, Li-San LS; Zarea, Aline A; Clarimon, Jordi J; van Swieten, John C JC; Greicius, Michael D MD; Yokoyama, Jennifer S JS; Cruchaga, Carlos C; Hardy, John J; Ramirez, Alfredo A; Mead, Simon S; van der Flier, Wiesje M WM; van Duijn, Cornelia M CM; Williams, Julie J; Nicolas, Gaël G; Bellenguez, Céline C; Lambert, Jean-Charles JC
Publication Date: 2022-12
Variant appearance in text: ABCA7: V1599M; rs117187003
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Frontiers In Aging Neuroscience
Bartoletti-Stella, Anna A; Tarozzi, Martina M; Mengozzi, Giacomo G; Asirelli, Francesca F; Brancaleoni, Laura L; Mometto, Nicola N; Stanzani-Maserati, Michelangelo M; Baiardi, Simone S; Linarello, Simona S; Spallazzi, Marco M; Pantieri, Roberta R; Ferriani, Elisa E; Caffarra, Paolo P; Liguori, Rocco R; Parchi, Piero P; Capellari, Sabina S
Publication Date: 2022
Variant appearance in text: ABCA7: 4795G>A; Val1599Met
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022
Variant appearance in text: ABCA7: 4795G>A; rs117187003
Exome Sequencing of 5 Families with Severe Early-Onset Periodontitis.
Journal Of Dental Research
Richter, G M GM; Wagner, G G; Reichenmiller, K K; Staufenbiel, I I; Martins, O O; Löscher, B S BS; Holtgrewe, M M; Jepsen, S S; Dommisch, H H; Schaefer, A S AS
Exome Sequencing of 5 Families with Severe Early-Onset Periodontitis.
Journal Of Dental Research
Richter, G M GM; Wagner, G G; Reichenmiller, K K; Staufenbiel, I I; Martins, O O; Löscher, B S BS; Holtgrewe, M M; Jepsen, S S; Dommisch, H H; Schaefer, A S AS
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.
Scientific Reports
Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C
Publication Date: 2020-04-28
Variant appearance in text: ABCA7: 4795G>A; V1599M; rs117187003
Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.
Molecular Psychiatry
Griesi-Oliveira, K K; Fogo, M S MS; Pinto, B G G BGG; Alves, A Y AY; Suzuki, A M AM; Morales, A G AG; Ezquina, S S; Sosa, O J OJ; Sutton, G J GJ; Sunaga-Franze, D Y DY; Bueno, A P AP; Seabra, G G; Sardinha, L L; Costa, S S SS; Rosenberg, C C; Zachi, E C EC; Sertie, A L AL; Martins-de-Souza, D D; Reis, E M EM; Voineagu, I I; Passos-Bueno, M R MR
Publication Date: 2021-05
Variant appearance in text: ABCA7: V1599M; rs117187003
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Whole-Exome Sequencing of an Exceptional Longevity Cohort.
The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
Nygaard, Haakon B HB; Erson-Omay, E Zeynep EZ; Wu, Xiujuan X; Kent, Brianne A BA; Bernales, Cecily Q CQ; Evans, Daniel M DM; Farrer, Matthew J MJ; Vilariño-Güell, Carles C; Strittmatter, Stephen M SM
Publication Date: 2019-08-16
Variant appearance in text: ABCA7: V1599M; rs117187003
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: ABCA7: 4795G>A; V1599M; rs117187003
ABCA7 p.G215S as potential protective factor for Alzheimer's disease.
Neurobiology Of Aging
Sassi, Celeste C; Nalls, Michael A MA; Ridge, Perry G PG; Gibbs, Jesse R JR; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Clement, Naomi N; Lord, Jenny J; Turton, James J; Bras, Jose J; Almeida, Maria R MR; , ; Holstege, Henne H; Louwersheimer, Eva E; van der Flier, Wiesje M WM; Scheltens, Philip P; Van Swieten, John C JC; Santana, Isabel I; Oliveira, Catarina C; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hardy, John J
Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.
Annals Of Neurology
Vardarajan, Badri N BN; Ghani, Mahdi M; Kahn, Amanda A; Sheikh, Stephanie S; Sato, Christine C; Barral, Sandra S; Lee, Joseph H JH; Cheng, Rong R; Reitz, Christiane C; Lantigua, Rafael R; Reyes-Dumeyer, Dolly D; Medrano, Martin M; Jimenez-Velazquez, Ivonne Z IZ; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Mayeux, Richard R
Publication Date: 2015-09
Variant appearance in text: ABCA7: V1599M; rs117187003
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.
American Journal Of Human Genetics
He, Zongxiao Z; O'Roak, Brian J BJ; Smith, Joshua D JD; Wang, Gao G; Hooker, Stanley S; Santos-Cortez, Regie Lyn P RL; Li, Biao B; Kan, Mengyuan M; Krumm, Nik N; Nickerson, Deborah A DA; Shendure, Jay J; Eichler, Evan E EE; Leal, Suzanne M SM
Publication Date: 2014-01-02
Variant appearance in text: ABCA7: 4795G>A; Val1599Met; rs117187003
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: ABCA7: V1599M; rs117187003