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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
Greenway, Steven C, Pereira, Alexandre C, Lin, Jennifer C, DePalma, Steven R, Israel, Samuel J, Mesquita, Sonia M, Ergul, Emel, Conta, Jessie H, Korn, Joshua M, McCarroll, Steven A, Gorham, Joshua M, Gabriel, Stacey, Altshuler, David M, de Lourdes Quintanilla-Dieck, Maria, Artunduaga, Maria Alexandra, Eavey, Roland D, Plenge, Robert M, Shadick, Nancy A, Weinblatt, Michael E, De Jager, Philip L, Hafler, David A, Breitbart, Roger E, Seidman, Jonathan G, Seidman, Christine E
Published in Nature genetics (01.08.2009)
Published in Nature genetics (01.08.2009)
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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
Hoischen, Alexander, van Bon, Bregje W M, Rodríguez-Santiago, Benjamín, Gilissen, Christian, Vissers, Lisenka E L M, de Vries, Petra, Janssen, Irene, van Lier, Bart, Hastings, Rob, Smithson, Sarah F, Newbury-Ecob, Ruth, Kjaergaard, Susanne, Goodship, Judith, McGowan, Ruth, Bartholdi, Deborah, Rauch, Anita, Peippo, Maarit, Cobben, Jan M, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Veltman, Joris A, Brunner, Han G, de Vries, Bert B B A
Published in Nature genetics (01.08.2011)
Published in Nature genetics (01.08.2011)
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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
Alders, Marielle, Hogan, Benjamin M, Gjini, Evisa, Salehi, Faranak, Al-Gazali, Lihadh, Hennekam, Eric A, Holmberg, Eva E, Mannens, Marcel M A M, Mulder, Margot F, Offerhaus, G Johan A, Prescott, Trine E, Schroor, Eelco J, Verheij, Joke B G M, Witte, Merlijn, Zwijnenburg, Petra J, Vikkula, Mikka, Schulte-Merker, Stefan, Hennekam, Raoul C
Published in Nature genetics (01.12.2009)
Published in Nature genetics (01.12.2009)
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Assessment of Biomarkers in asbestos-exposed workers as indicators of cancer risk
Amati, Monica, Tomasetti, Marco, Mariotti, Laura, Tarquini, Lucia Miria, Valentino, Matteo, Santarelli, Lory
Published in Mutation research (01.08.2008)
Published in Mutation research (01.08.2008)
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Human Megasatellite DNA RS447: Copy-Number Polymorphisms and Interspecies Conservation
Gondo, Yoichi, Okada, Takeya, Matsuyama, Noriko, Saitoh, Yasushi, Yanagisawa, Yoshiko, Ikeda, Joh-E
Published in Genomics (San Diego, Calif.) (15.11.1998)
Published in Genomics (San Diego, Calif.) (15.11.1998)
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Experimental evolution
Kawecki, Tadeusz J., Lenski, Richard E., Ebert, Dieter, Hollis, Brian, Olivieri, Isabelle, Whitlock, Michael C.
Published in Trends in ecology & evolution (Amsterdam) (01.10.2012)
Published in Trends in ecology & evolution (Amsterdam) (01.10.2012)
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Reconstructing Native American population history
Reich, David, Patterson, Nick, Campbell, Desmond, Tandon, Arti, Mazieres, Stéphane, Ray, Nicolas, Parra, Maria V., Rojas, Winston, Duque, Constanza, Mesa, Natalia, García, Luis F., Triana, Omar, Blair, Silvia, Maestre, Amanda, Dib, Juan C., Bravi, Claudio M., Bailliet, Graciela, Corach, Daniel, Hünemeier, Tábita, Bortolini, Maria Cátira, Salzano, Francisco M., Petzl-Erler, María Luiza, Acuña-Alonzo, Victor, Aguilar-Salinas, Carlos, Canizales-Quinteros, Samuel, Tusié-Luna, Teresa, Riba, Laura, Rodríguez-Cruz, Maricela, Lopez-Alarcón, Mardia, Coral-Vazquez, Ramón, Canto-Cetina, Thelma, Silva-Zolezzi, Irma, Fernandez-Lopez, Juan Carlos, Contreras, Alejandra V., Jimenez-Sanchez, Gerardo, Gómez-Vázquez, Maria José, Molina, Julio, Carracedo, Ángel, Salas, Antonio, Gallo, Carla, Poletti, Giovanni, Witonsky, David B., Alkorta-Aranburu, Gorka, Sukernik, Rem I., Osipova, Ludmila, Fedorova, Sardana A., Vasquez, René, Villena, Mercedes, Moreau, Claudia, Barrantes, Ramiro, Pauls, David, Excoffier, Laurent, Bedoya, Gabriel, Rothhammer, Francisco, Dugoujon, Jean-Michel, Larrouy, Georges, Klitz, William, Labuda, Damian, Kidd, Judith, Kidd, Kenneth, Di Rienzo, Anna, Freimer, Nelson B., Price, Alkes L., Ruiz-Linares, Andrés
Published in Nature (London) (16.08.2012)
Published in Nature (London) (16.08.2012)
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Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54
WANG, Li-Dong, ZHOU, Fu-You, ZHANG, Lian-Qun, YANG, Jie-Zhi, LI, Ji-Lin, LI, Xing-Chuan, REN, Jing-Li, LIU, Zhi-Cai, GAO, Wen-Jun, LING YUAN, WUWEI, ZHANG, Yan-Rui, LI, Xue-Min, WANG, Wei-Peng, SHEYHIDIN, Ilyar, FENG LI, CHEN, Bao-Ping, REN, Shu-Wei, BIN LIU, DAN LI, KU, Jian-Wei, FAN, Zong-Min, ZHOU, Sheng-Li, SUN, Liang-Dan, GUO, Zhi-Gang, ZHAO, Xue-Ke, NA LIU, AI, Yong-Hong, SHEN, Fang-Fang, CUI, Wen-Yan, SHUANG SONG, TAO GUO, JING HUANG, CHAO YUAN, XIN SONG, JIA HUANG, YUE WU, YUE, Wen-Bin, FENG, Chang-Wei, LI, Hong-Lei, YAN WANG, TIAN, Jin-Ya, YUE LU, YI YUAN, ZHU, Wen-Liang, YAN JIN, MIN LIU, FU, Wen-Jing, XIA YANG, WANG, Han-Jing, HAN, Suo-Li, JIE CHEN, MIN HAN, WANG, Hai-Yan, PENG ZHANG, LI, Xiu-Min, LI, Jiang-Man, KONG, Guo-Qiang, HONG QI, JUAN CUI
Published in Nature genetics (01.09.2010)
Published in Nature genetics (01.09.2010)
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Genome-wide association study identifies five new schizophrenia loci
Ripke, Stephan, Sanders, Alan R, Kendler, Kenneth S, Levinson, Douglas F, Sklar, Pamela, Holmans, Peter A, Lin, Dan-Yu, Duan, Jubao, Ophoff, Roel A, Andreassen, Ole A, Scolnick, Edward, Cichon, Sven, St Clair, David, Corvin, Aiden, Gurling, Hugh, Werge, Thomas, Rujescu, Dan, Blackwood, Douglas H R, Pato, Carlos N, Malhotra, Anil K, Purcell, Shaun, Dudbridge, Frank, Neale, Benjamin M, Rossin, Lizzy, Visscher, Peter M, Posthuma, Danielle, Ruderfer, Douglas M, Fanous, Ayman, Stefansson, Hreinn, Steinberg, Stacy, Mowry, Bryan J, Golimbet, Vera, De Hert, Marc, Jonsson, Erik G, Bitter, Istvan, Pietilaeinen, Olli P H, Collier, David A, Tosato, Sarah, Agartz, Ingrid, Albus, Margot, Alexander, Madeline, Amdur, Richard L, Amin, Farooq, Bass, Nicholas, Bergen, Sarah E, Black, Donald W, Boerglum, Anders D, Brown, Matthew A, Bruggeman, Richard, Buccola, Nancy G
Published in Nature genetics (01.10.2011)
Published in Nature genetics (01.10.2011)
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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Lemmers, Richard J L F, Tawil, Rabi, Petek, Lisa M, Balog, Judit, Block, Gregory J, Santen, Gijs W E, Amell, Amanda M, van der Vliet, Patrick J, Almomani, Rowida, Straasheijm, Kirsten R, Krom, Yvonne D, Klooster, Rinse, Sun, Yu, den Dunnen, Johan T, Helmer, Quinta, Donlin-Smith, Colleen M, Padberg, George W, van Engelen, Baziel G M, de Greef, Jessica C, Aartsma-Rus, Annemieke M, Frants, Rune R, de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N, Bakker, Bert, Bamshad, Michael J, Tapscott, Stephen J, Miller, Daniel G, van der Maarel, Silvère M
Published in Nature genetics (01.12.2012)
Published in Nature genetics (01.12.2012)
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Individual common variants exert weak effects on the risk for autism spectrum disorderspi
ANNEY, Richard, KLEI, Lambertus, BRENNAN, Sean, BRIAN, Jessica, CASEY, Jillian, CONROY, Judith, CORREIA, Catarina, CORSELLO, Christina, CRAWFORD, Emily L, DE JONGE, Maretha, DELORME, Richard, DUKETIS, Eftichia, PINTO, Dalila, DUQUE, Frederico, ESTES, Annette, FARRAR, Penny, FERNANDEZ, Bridget A, FOLSTEIN, Susan E, FOMBONNE, Eric, GILBERT, John, GILLBERG, Christopher, GLESSNER, Joseph T, GREEN, Andrew, ALMEIDA, Joana, GREEN, Jonathan, GUTER, Stephen J, HERON, Elizabeth A, HOLT, Richard, HOWE, Jennifer L, HUGHES, Gillian, HUS, Vanessa, IGLIOZZI, Roberta, JACOB, Suma, KENNY, Graham P, BACCHELLI, Elena, KIM, Cecilia, KOLEVZON, Alexander, KUSTANOVICH, Vlad, LAJONCHERE, Clara M, LAMB, Janine A, LAW-SMITH, Miriam, LEBOYER, Marion, LE COUTEUR, Ann, LEVENTHAL, Bennett L, LIU, Xiao-Qing, BAIRD, Gillian, LOMBARD, Frances, LORD, Catherine, LOTSPEICH, Linda, LUND, Sabata C, MAGALHAES, Tiago R, MANTOULAN, Carine, MCDOUGLE, Christopher J, MELHEM, Nadine M, MERIKANGAS, Alison, MINSHEW, Nancy J, BOLSHAKOVA, Nadia, BÖLTE, Sven, BOLTON, Patrick F, BOURGERON, Thomas
Published in Human molecular genetics (01.11.2012)
Published in Human molecular genetics (01.11.2012)
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What do we need to know about speciation?
Butlin, Roger, Debelle, Allan, Kerth, Claudius, Snook, Rhonda R, Beukeboom, Leo W, Castillo Cajas, Ruth F, Diao, Wenwen, Maan, Martine E, Paolucci, Silvia, Weissing, Franz J, van de Zande, Louis, Hoikkala, Anneli, Geuverink, Elzemiek, Jennings, Jackson, Kankare, Maaria, Knott, K Emily, Tyukmaeva, Venera I, Zoumadakis, Christos, Ritchie, Michael G, Barker, Daniel, Immonen, Elina, Kirkpatrick, Mark, Noor, Mohamed, Macias Garcia, Constantino, Schmitt, Thomas, Schilthuizen, Menno
Published in Trends in ecology & evolution (Amsterdam) (2012)
Published in Trends in ecology & evolution (Amsterdam) (2012)
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Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder
Gui, Yaoting, Guo, Guangwu, Huang, Yi, Hu, Xueda, Tang, Aifa, Gao, Shengjie, Wu, Renhua, Chen, Chao, Li, Xianxin, Zhou, Liang, He, Minghui, Li, Zesong, Sun, Xiaojuan, Jia, Wenlong, Chen, Jinnong, Yang, Shangming, Zhou, Fangjian, Zhao, Xiaokun, Wan, Shengqing, Ye, Rui, Liang, Chaozhao, Liu, Zhisheng, Huang, Peide, Liu, Chunxiao, Jiang, Hui, Wang, Yong, Zheng, Hancheng, Sun, Liang, Liu, Xingwang, Jiang, Zhimao, Feng, Dafei, Chen, Jing, Wu, Song, Zou, Jing, Zhang, Zhongfu, Yang, Ruilin, Zhao, Jun, Xu, Congjie, Yin, Weihua, Guan, Zhichen, Ye, Jiongxian, Zhang, Hong, Li, Jingxiang, Kristiansen, Karsten, Nickerson, Michael L, Theodorescu, Dan, Li, Yingrui, Zhang, Xiuqing, Li, Songgang, Wang, Jian, Yang, Huanming, Wang, Jun, Cai, Zhiming
Published in Nature genetics (01.09.2011)
Published in Nature genetics (01.09.2011)
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Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
Xue, Yali, Chen, Yuan, Ayub, Qasim, Huang, Ni, Ball, Edward V., Mort, Matthew, Phillips, Andrew D., Shaw, Katy, Stenson, Peter D., Cooper, David N., Tyler-Smith, Chris
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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