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
Publication Date: 2023-02-08
Variant appearance in text: ADGRV1: 18741G>T; Gly6247=; rs13158963
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.
Circulation. Cardiovascular Genetics
Guo, Tingwei T; Repetto, Gabriela M GM; McDonald McGinn, Donna M DM; Chung, Jonathan H JH; Nomaru, Hiroko H; Campbell, Christopher L CL; Blonska, Anna A; Bassett, Anne S AS; Chow, Eva W C EWC; Mlynarski, Elisabeth E EE; Swillen, Ann A; Vermeesch, Joris J; Devriendt, Koen K; Gothelf, Doron D; Carmel, Miri M; Michaelovsky, Elena E; Schneider, Maude M; Eliez, Stephan S; Antonarakis, Stylianos E SE; Coleman, Karlene K; Tomita-Mitchell, Aoy A; Mitchell, Michael E ME; Digilio, M Cristina MC; Dallapiccola, Bruno B; Marino, Bruno B; Philip, Nicole N; Busa, Tiffany T; Kushan-Wells, Leila L; Bearden, Carrie E CE; Piotrowicz, Małgorzata M; Hawuła, Wanda W; Roberts, Amy E AE; Tassone, Flora F; Simon, Tony J TJ; van Duin, Esther D A EDA; van Amelsvoort, Thérèse A TA; Kates, Wendy R WR; Zackai, Elaine E; Johnston, H Richard HR; Cutler, David J DJ; Agopian, A J AJ; Goldmuntz, Elizabeth E; Mitchell, Laura E LE; Wang, Tao T; Emanuel, Beverly S BS; Morrow, Bernice E BE; ,
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