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
Systems genetics analysis defines importance of TMEM43/LUMA for cardiac- and metabolic-related pathways.
Physiological Genomics
Gu, Qingqing Q; Xu, Fuyi F; Orgil, Buyan-Ochir BO; Khuchua, Zaza Z; Munkhsaikhan, Undral U; Johnson, Jason N JN; Alberson, Neely R NR; Pierre, Joseph F JF; Black, Dennis D DD; Dong, Deli D; Brennan, Jaclyn A JA; Cathey, Brianna M BM; Efimov, Igor R IR; Towbin, Jeffrey A JA; Purevjav, Enkhsaikhan E; Lu, Lu L
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Nature Communications
Fahed, Akl C AC; Wang, Minxian M; Homburger, Julian R JR; Patel, Aniruddh P AP; Bick, Alexander G AG; Neben, Cynthia L CL; Lai, Carmen C; Brockman, Deanna D; Philippakis, Anthony A; Ellinor, Patrick T PT; Cassa, Christopher A CA; Lebo, Matthew M; Ng, Kenney K; Lander, Eric S ES; Zhou, Alicia Y AY; Kathiresan, Sekar S; Khera, Amit V AV
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: PSEN1: D333G; rs121917809
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: PSEN1: D333G; rs121917809
Protein aggregates and novel presenilin gene variants in idiopathic dilated cardiomyopathy.
Circulation
Gianni, Davide D; Li, Airong A; Tesco, Giuseppina G; McKay, Kenneth M KM; Moore, John J; Raygor, Kunal K; Rota, Marcello M; Gwathmey, Judith K JK; Dec, G William GW; Aretz, Thomas T; Leri, Annarosa A; Semigran, Marc J MJ; Anversa, Piero P; Macgillivray, Thomas E TE; Tanzi, Rudolph E RE; del Monte, Federica F
Mutations of presenilin genes in dilated cardiomyopathy and heart failure.
American Journal Of Human Genetics
Li, Duanxiang D; Parks, Sharie B SB; Kushner, Jessica D JD; Nauman, Deirdre D; Burgess, Donna D; Ludwigsen, Susan S; Partain, Julie J; Nixon, Randal R RR; Allen, Charles N CN; Irwin, Robert P RP; Jakobs, Petra M PM; Litt, Michael M; Hershberger, Ray E RE