Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
A hotspot for posttranslational modifications on the androgen receptor dimer interface drives pathology and anti-androgen resistance.
Science Advances
Alegre-Martí, Andrea A; Jiménez-Panizo, Alba A; Martínez-Tébar, Adrián A; Poulard, Coralie C; Peralta-Moreno, M Núria MN; Abella, Montserrat M; Antón, Rosa R; Chiñas, Marcos M; Eckhard, Ulrich U; Piulats, Josep M JM; Rojas, Ana M AM; Fernández-Recio, Juan J; Rubio-Martínez, Jaime J; Le Romancer, Muriel M; Aytes, Álvaro Á; Fuentes-Prior, Pablo P; Estébanez-Perpiñá, Eva E
Impact of low-frequency coding variants on human facial shape.
Scientific Reports
Liu, Dongjing D; Alhazmi, Nora N; Matthews, Harold H; Lee, Myoung Keun MK; Li, Jiarui J; Hecht, Jacqueline T JT; Wehby, George L GL; Moreno, Lina M LM; Heike, Carrie L CL; Roosenboom, Jasmien J; Feingold, Eleanor E; Marazita, Mary L ML; Claes, Peter P; Liao, Eric C EC; Weinberg, Seth M SM; Shaffer, John R JR
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
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Nature Communications
, ; Del-Toro, N N; Duesbury, M M; Koch, M M; Perfetto, L L; Shrivastava, A A; Ochoa, D D; Wagih, O O; Piñero, J J; Kotlyar, M M; Pastrello, C C; Beltrao, P P; Furlong, L I LI; Jurisica, I I; Hermjakob, H H; Orchard, S S; Porras, P P
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Human Genomics
Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C
Batista, Rafael Loch RL; Costa, Elaine M Frade EMF; Rodrigues, Andresa de Santi AS; Gomes, Nathalia Lisboa NL; Faria, José Antonio JA; Nishi, Mirian Y MY; Arnhold, Ivo Jorge Prado IJP; Domenice, Sorahia S; Mendonca, Berenice Bilharinho de BB
Rare and low-frequency coding variants alter human adult height.
Nature
Marouli, Eirini E; Graff, Mariaelisa M; Medina-Gomez, Carolina C; Lo, Ken Sin KS; Wood, Andrew R AR; Kjaer, Troels R TR; Fine, Rebecca S RS; Lu, Yingchang Y; Schurmann, Claudia C; Highland, Heather M HM; Rüeger, Sina S; Thorleifsson, Gudmar G; Justice, Anne E AE; Lamparter, David D; Stirrups, Kathleen E KE; Turcot, Valérie V; Young, Kristin L KL; Winkler, Thomas W TW; Esko, Tõnu T; Karaderi, Tugce T; Locke, Adam E AE; Masca, Nicholas G D NG; Ng, Maggie C Y MC; Mudgal, Poorva P; Rivas, Manuel A MA; Vedantam, Sailaja S; Mahajan, Anubha A; Guo, Xiuqing X; Abecasis, Goncalo G; Aben, Katja K KK; Adair, Linda S LS; Alam, Dewan S DS; Albrecht, Eva E; Allin, Kristine H KH; Allison, Matthew M; Amouyel, Philippe P; Appel, Emil V EV; Arveiler, Dominique D; Asselbergs, Folkert W FW; Auer, Paul L PL; Balkau, Beverley B; Banas, Bernhard B; Bang, Lia E LE; Benn, Marianne M; Bergmann, Sven S; Bielak, Lawrence F LF; Blüher, Matthias M; Boeing, Heiner H; Boerwinkle, Eric E; Böger, Carsten A CA; Bonnycastle, Lori L LL; Bork-Jensen, Jette J; Bots, Michiel L ML; Bottinger, Erwin P EP; Bowden, Donald W DW; Brandslund, Ivan I; Breen, Gerome G; Brilliant, Murray H MH; Broer, Linda L; Burt, Amber A AA; Butterworth, Adam S AS; Carey, David J DJ; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Cocca, Massimiliano M; Collins, Francis S FS; Cook, James P JP; Corley, Janie J; Galbany, Jordi Corominas JC; Cox, Amanda J AJ; Cuellar-Partida, Gabriel G; Danesh, John J; Davies, Gail G; de Bakker, Paul I W PI; de Borst, Gert J GJ; de Denus, Simon S; de Groot, Mark C H MC; de Mutsert, Renée R; Deary, Ian J IJ; Dedoussis, George G; Demerath, Ellen W EW; den Hollander, Anneke I AI; Dennis, Joe G JG; Di Angelantonio, Emanuele E; Drenos, Fotios F; Du, Mengmeng M; Dunning, Alison M AM; Easton, Douglas F DF; Ebeling, Tapani T; Edwards, Todd L TL; Ellinor, Patrick T PT; Elliott, Paul P; Evangelou, Evangelos E; Farmaki, Aliki-Eleni AE; Faul, Jessica D JD; Feitosa, Mary F MF; Feng, Shuang S; Ferrannini, Ele E; Ferrario, Marco M MM; Ferrieres, Jean J; Florez, Jose C JC; Ford, Ian I; Fornage, Myriam M; Franks, Paul W PW; Frikke-Schmidt, Ruth R; Galesloot, Tessel E TE; Gan, Wei W; Gandin, Ilaria I; Gasparini, Paolo P; Giedraitis, Vilmantas V; Giri, Ayush A; Girotto, Giorgia G; Gordon, Scott D SD; Gordon-Larsen, Penny P; Gorski, Mathias M; Grarup, Niels N; Grove, Megan L ML; Gudnason, Vilmundur V; Gustafsson, Stefan S; Hansen, Torben T; Harris, Kathleen Mullan KM; Harris, Tamara B TB; Hattersley, Andrew T AT; Hayward, Caroline C; He, Liang L; Heid, Iris M IM; Heikkilä, Kauko K; Helgeland, Øyvind Ø; Hernesniemi, Jussi J; Hewitt, Alex W AW; Hocking, Lynne J LJ; Hollensted, Mette M; Holmen, Oddgeir L OL; Hovingh, G Kees GK; Howson, Joanna M M JM; Hoyng, Carel B CB; Huang, Paul L PL; Hveem, Kristian K; Ikram, M Arfan MA; Ingelsson, Erik E; Jackson, Anne U AU; Jansson, Jan-Håkan JH; Jarvik, Gail P GP; Jensen, Gorm B GB; Jhun, Min A MA; Jia, Yucheng Y; Jiang, Xuejuan X; Johansson, Stefan S; Jørgensen, Marit E ME; Jørgensen, Torben T; Jousilahti, Pekka P; Jukema, J Wouter JW; Kahali, Bratati B; Kahn, René S RS; Kähönen, Mika M; Kamstrup, Pia R PR; Kanoni, Stavroula S; Kaprio, Jaakko J; Karaleftheri, Maria M; Kardia, Sharon L R SL; Karpe, Fredrik F; Kee, Frank F; Keeman, Renske R; Kiemeney, Lambertus A LA; Kitajima, Hidetoshi H; Kluivers, Kirsten B KB; Kocher, Thomas T; Komulainen, Pirjo P; Kontto, Jukka J; Kooner, Jaspal S JS; Kooperberg, Charles C; Kovacs, Peter P; Kriebel, Jennifer J; Kuivaniemi, Helena H; Küry, Sébastien S; Kuusisto, Johanna J; La Bianca, Martina M; Laakso, Markku M; Lakka, Timo A TA; Lange, Ethan M EM; Lange, Leslie A LA; Langefeld, Carl D CD; Langenberg, Claudia C; Larson, Eric B EB; Lee, I-Te IT; Lehtimäki, Terho T; Lewis, Cora E CE; Li, Huaixing H; Li, Jin J; Li-Gao, Ruifang R; Lin, Honghuang H; Lin, Li-An LA; Lin, Xu X; Lind, Lars L; Lindström, Jaana J; Linneberg, Allan A; Liu, Yeheng Y; Liu, Yongmei Y; Lophatananon, Artitaya A; Luan, Jian'an J; Lubitz, Steven A SA; Lyytikäinen, Leo-Pekka LP; Mackey, David A DA; Madden, Pamela A F PA; Manning, Alisa K AK; Männistö, Satu S; Marenne, Gaëlle G; Marten, Jonathan J; Martin, Nicholas G NG; Mazul, Angela L AL; Meidtner, Karina K; Metspalu, Andres A; Mitchell, Paul P; Mohlke, Karen L KL; Mook-Kanamori, Dennis O DO; Morgan, Anna A; Morris, Andrew D AD; Morris, Andrew P AP; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Nalls, Mike A MA; Nauck, Matthias M; Nelson, Christopher P CP; Neville, Matt M; Nielsen, Sune F SF; Nikus, Kjell K; Njølstad, Pål R PR; Nordestgaard, Børge G BG; Ntalla, Ioanna I; O'Connel, Jeffrey R JR; Oksa, Heikki H; Loohuis, Loes M Olde LM; Ophoff, Roel A RA; Owen, Katharine R KR; Packard, Chris J CJ; Padmanabhan, Sandosh S; Palmer, Colin N A CN; Pasterkamp, Gerard G; Patel, Aniruddh P AP; Pattie, Alison A; Pedersen, Oluf O; Peissig, Peggy L PL; Peloso, Gina M GM; Pennell, Craig E CE; Perola, Markus M; Perry, James A JA; Perry, John R B JR; Person, Thomas N TN; Pirie, Ailith A; Polasek, Ozren O; Posthuma, Danielle D; Raitakari, Olli T OT; Rasheed, Asif A; Rauramaa, Rainer R; Reilly, Dermot F DF; Reiner, Alex P AP; Renström, Frida F; Ridker, Paul M PM; Rioux, John D JD; Robertson, Neil N; Robino, Antonietta A; Rolandsson, Olov O; Rudan, Igor I; Ruth, Katherine S KS; Saleheen, Danish D; Salomaa, Veikko V; Samani, Nilesh J NJ; Sandow, Kevin K; Sapkota, Yadav Y; Sattar, Naveed N; Schmidt, Marjanka K MK; Schreiner, Pamela J PJ; Schulze, Matthias B MB; Scott, Robert A RA; Segura-Lepe, Marcelo P MP; Shah, Svati S; Sim, Xueling X; Sivapalaratnam, Suthesh S; Small, Kerrin S KS; Smith, Albert Vernon AV; Smith, Jennifer A JA; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Starr, John M JM; Steinthorsdottir, Valgerdur V; Stringham, Heather M HM; Stumvoll, Michael M; Surendran, Praveen P; 't Hart, Leen M LM; Tansey, Katherine E KE; Tardif, Jean-Claude JC; Taylor, Kent D KD; Teumer, Alexander A; Thompson, Deborah J DJ; Thorsteinsdottir, Unnur U; Thuesen, Betina H BH; Tönjes, Anke A; Tromp, Gerard G; Trompet, Stella S; Tsafantakis, Emmanouil E; Tuomilehto, Jaakko J; Tybjaerg-Hansen, Anne A; Tyrer, Jonathan P JP; Uher, Rudolf R; Uitterlinden, André G AG; Ulivi, Sheila S; van der Laan, Sander W SW; Van Der Leij, Andries R AR; van Duijn, Cornelia M CM; van Schoor, Natasja M NM; van Setten, Jessica J; Varbo, Anette A; Varga, Tibor V TV; Varma, Rohit R; Edwards, Digna R Velez DR; Vermeulen, Sita H SH; Vestergaard, Henrik H; Vitart, Veronique V; Vogt, Thomas F TF; Vozzi, Diego D; Walker, Mark M; Wang, Feijie F; Wang, Carol A CA; Wang, Shuai S; Wang, Yiqin Y; Wareham, Nicholas J NJ; Warren, Helen R HR; Wessel, Jennifer J; Willems, Sara M SM; Wilson, James G JG; Witte, Daniel R DR; Woods, Michael O MO; Wu, Ying Y; Yaghootkar, Hanieh H; Yao, Jie J; Yao, Pang P; Yerges-Armstrong, Laura M LM; Young, Robin R; Zeggini, Eleftheria E; Zhan, Xiaowei X; Zhang, Weihua W; Zhao, Jing Hua JH; Zhao, Wei W; Zhao, Wei W; Zheng, He H; Zhou, Wei W; , ; , ; , ; , ; , ; , ; , ; , ; Rotter, Jerome I JI; Boehnke, Michael M; Kathiresan, Sekar S; McCarthy, Mark I MI; Willer, Cristen J CJ; Stefansson, Kari K; Borecki, Ingrid B IB; Liu, Dajiang J DJ; North, Kari E KE; Heard-Costa, Nancy L NL; Pers, Tune H TH; Lindgren, Cecilia M CM; Oxvig, Claus C; Kutalik, Zoltán Z; Rivadeneira, Fernando F; Loos, Ruth J F RJ; Frayling, Timothy M TM; Hirschhorn, Joel N JN; Deloukas, Panos P; Lettre, Guillaume G
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.
Frontiers In Molecular Neuroscience
Krüger, Stefanie S; Battke, Florian F; Sprecher, Andrea A; Munz, Marita M; Synofzik, Matthis M; Schöls, Ludger L; Gasser, Thomas T; Grehl, Torsten T; Prudlo, Johannes J; Biskup, Saskia S
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03
Variant appearance in text: AIS: 2395C>G; rs137852591