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
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
Plos Genetics
Mederer, Tanja T; Schmitteckert, Stefanie S; Volz, Julia J; Martínez, Cristina C; Röth, Ralph R; Thumberger, Thomas T; Eckstein, Volker V; Scheuerer, Jutta J; Thöni, Cornelia C; Lasitschka, Felix F; Carstensen, Leonie L; Günther, Patrick P; Holland-Cunz, Stefan S; Hofstra, Robert R; Brosens, Erwin E; Rosenfeld, Jill A JA; Schaaf, Christian P CP; Schriemer, Duco D; Ceccherini, Isabella I; Rusmini, Marta M; Tilghman, Joseph J; Luzón-Toro, Berta B; Torroglosa, Ana A; Borrego, Salud S; Sze-Man Tang, Clara C; Garcia-Barceló, Mercè M; Tam, Paul P; Paramasivam, Nagarajan N; Bewerunge-Hudler, Melanie M; De La Torre, Carolina C; Gretz, Norbert N; Rappold, Gudrun A GA; Romero, Philipp P; Niesler, Beate B
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE