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
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
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
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.
Stem Cell Reports
Brandão, Karina O KO; van den Brink, Lettine L; Miller, Duncan C DC; Grandela, Catarina C; van Meer, Berend J BJ; Mol, Mervyn P H MPH; de Korte, Tessa T; Tertoolen, Leon G J LGJ; Mummery, Christine L CL; Sala, Luca L; Verkerk, Arie O AO; Davis, Richard P RP
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.
Npj Genomic Medicine
Aguib, Yasmine Y; Allouba, Mona M; Afify, Alaa A; Halawa, Sarah S; El-Khatib, Mohamed M; Sous, Marina M; Galal, Aya A; Abdelrahman, Eslam E; Shehata, Nairouz N; El Sawy, Amr A; Elmaghawry, Mohamed M; Anwer, Shehab S; Kamel, Omnia O; El Mozy, Wesam W; Khedr, Hadir H; Kharabish, Ahmed A; Thabet, Nagwa N; Theotokis, Pantazis I PI; Buchan, Rachel R; Govind, Risha R; Whiffin, Nicola N; Walsh, Roddy R; Aguib, Heba H; Elguindy, Ahmed A; O'Regan, Declan P DP; Cook, Stuart A SA; Barton, Paul J PJ; Ware, James S JS; Yacoub, Magdi M
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders.
Nature Human Behaviour
Evangelou, Evangelos E; Gao, He H; Chu, Congying C; Ntritsos, Georgios G; Blakeley, Paul P; Butts, Andrew R AR; Pazoki, Raha R; Suzuki, Hideaki H; Koskeridis, Fotios F; Yiorkas, Andrianos M AM; Karaman, Ibrahim I; Elliott, Joshua J; Luo, Qiang Q; Aeschbacher, Stefanie S; Bartz, Traci M TM; Baumeister, Sebastian E SE; Braund, Peter S PS; Brown, Michael R MR; Brody, Jennifer A JA; Clarke, Toni-Kim TK; Dimou, Niki N; Faul, Jessica D JD; Homuth, Georg G; Jackson, Anne U AU; Kentistou, Katherine A KA; Joshi, Peter K PK; Lemaitre, Rozenn N RN; Lind, Penelope A PA; Lyytikäinen, Leo-Pekka LP; Mangino, Massimo M; Milaneschi, Yuri Y; Nelson, Christopher P CP; Nolte, Ilja M IM; Perälä, Mia-Maria MM; Polasek, Ozren O; Porteous, David D; Ratliff, Scott M SM; Smith, Jennifer A JA; Stančáková, Alena A; Teumer, Alexander A; Tuominen, Samuli S; Thériault, Sébastien S; Vangipurapu, Jagadish J; Whitfield, John B JB; Wood, Alexis A; Yao, Jie J; Yu, Bing B; Zhao, Wei W; Arking, Dan E DE; Auvinen, Juha J; Liu, Chunyu C; Männikkö, Minna M; Risch, Lorenz L; Rotter, Jerome I JI; Snieder, Harold H; Veijola, Juha J; Blakemore, Alexandra I AI; Boehnke, Michael M; Campbell, Harry H; Conen, David D; Eriksson, Johan G JG; Grabe, Hans J HJ; Guo, Xiuqing X; van der Harst, Pim P; Hartman, Catharina A CA; Hayward, Caroline C; Heath, Andrew C AC; Jarvelin, Marjo-Riitta MR; Kähönen, Mika M; Kardia, Sharon L R SLR; Kühne, Michael M; Kuusisto, Johanna J; Laakso, Markku M; Lahti, Jari J; Lehtimäki, Terho T; McIntosh, Andrew M AM; Mohlke, Karen L KL; Morrison, Alanna C AC; Martin, Nicholas G NG; Oldehinkel, Albertine J AJ; Penninx, Brenda W J H BWJH; Psaty, Bruce M BM; Raitakari, Olli T OT; Rudan, Igor I; Samani, Nilesh J NJ; Scott, Laura J LJ; Spector, Tim D TD; Verweij, Niek N; Weir, David R DR; Wilson, James F JF; Levy, Daniel D; Tzoulaki, Ioanna I; Bell, Jimmy D JD; Matthews, Paul M PM; Rothenfluh, Adrian A; Desrivières, Sylvane S; Schumann, Gunter G; Elliott, Paul P
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
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
Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection.
Journal Of Clinical Bioinformatics
Stubbs, Andrew A; McClellan, Elizabeth A EA; Horsman, Sebastiaan S; Hiltemann, Saskia D SD; Palli, Ivo I; Nouwens, Stephan S; Koning, Anton Hj AH; Hoogland, Frits F; Reumers, Joke J; Heijsman, Daphne D; Swagemakers, Sigrid S; Kremer, Andreas A; Meijerink, Jules J; Lambrechts, Diether D; van der Spek, Peter J PJ
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
Plos One
Posch, Maximilian G MG; Waldmuller, Stephan S; Müller, Melanie M; Scheffold, Thomas T; Fournier, David D; Andrade-Navarro, Miguel A MA; De Geeter, Bernard B; Guillaumont, Sophie S; Dauphin, Claire C; Yousseff, Dany D; Schmitt, Katharina R KR; Perrot, Andreas A; Berger, Felix F; Hetzer, Roland R; Bouvagnet, Patrice P; Özcelik, Cemil C
Publication Date: 2011
Variant appearance in text: TCAP: 453A>C; A151A; rs1053651
HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.
British Journal Of Cancer
Benusiglio, P R PR; Pharoah, P D PD; Smith, P L PL; Lesueur, F F; Conroy, D D; Luben, R N RN; Dew, G G; Jordan, C C; Dunning, A A; Easton, D F DF; Ponder, B A J BA