Clinical sequencing: is WGS the better WES?

por Meienberg, Janine, Bruggmann, Rémy, Oexle, Konrad, Matyas, Gabor
Publicado 2016

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

por Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas
Publicado 2020

Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730]

por Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas
Publicado 2020

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

por Farag, Heba Gamal, Froehler, Sebastian, Oexle, Konrad, Ravindran, Ethiraj, Schindler, Detlev, Staab, Timo, Huebner, Angela, Kraemer, Nadine, Chen, Wei, Kaindl, Angela M
Publicado 2013

Diabetes and Neurodegeneration in Wolfram Syndrome: A multicenter study of phenotype and genotype

por Rohayem, Julia, Ehlers, Christian, Wiedemann, Bärbel, Holl, Reinhard, Oexle, Konrad, Kordonouri, Olga, Salzano, Giuseppina, Meissner, Thomas, Burger, Walter, Schober, Edith, Huebner, Angela, Lee-Kirsch, Min Ae
Publicado 2011

MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease

por Schormair, Barbara, Plag, Jens, Kaffe, Maria, Groß, Nadine, Czamara, Darina, Samtleben, Walter, Lichtner, Peter, Ströhle, Andreas, Stefanidis, Ioannis, Vainas, Andreas, Dardiotis, Efthimios, Sakkas, George K, Gieger, Christian, Müller-Myhsok, Bertram, Meitinger, Thomas, Heemann, Uwe, Hadjigeorgiou, Georgios M, Oexle, Konrad, Winkelmann, Juliane
Publicado 2011

Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders

por Zech, Michael, Nübling, Georg, Castrop, Florian, Jochim, Angela, Schulte, Eva C., Mollenhauer, Brit, Lichtner, Peter, Peters, Annette, Gieger, Christian, Marquardt, Thorsten, Vanier, Marie T., Latour, Philippe, Klünemann, Hans, Trenkwalder, Claudia, Diehl-Schmid, Janine, Perneczky, Robert, Meitinger, Thomas, Oexle, Konrad, Haslinger, Bernhard, Lorenzl, Stefan, Winkelmann, Juliane
Publicado 2013

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

por Hopfner, Franziska, Schormair, Barbara, Knauf, Franziska, Berthele, Achim, Tölle, Thomas R, Baron, Ralf, Maier, Christoph, Treede, Rolf-Detlef, Binder, Andreas, Sommer, Claudia, Maihöfner, Christian, Kunz, Wolfram, Zimprich, Friedrich, Heemann, Uwe, Pfeufer, Arne, Näbauer, Michael, Kääb, Stefan, Nowak, Barbara, Gieger, Christian, Lichtner, Peter, Trenkwalder, Claudia, Oexle, Konrad, Winkelmann, Juliane
Publicado 2011

Episignature analysis of moderate effects and mosaics

por Oexle, Konrad, Zech, Michael, Stühn, Lara G., Siegert, Sandy, Brunet, Theresa, Schmidt, Wolfgang M., Wagner, Matias, Schmidt, Axel, Engels, Hartmut, Tilch, Erik, Monestier, Olivier, Destrėe, Anne, Hanker, Britta, Boesch, Sylvia, Jech, Robert, Berutti, Riccardo, Kaiser, Frank, Haslinger, Bernhard, Haack, Tobias B., Garavaglia, Barbara, Krawitz, Peter, Winkelmann, Juliane, Mirza-Schreiber, Nazanin
Publicado 2023

Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits

por Hammerschlag, Anke R, Stringer, Sven, de Leeuw, Christiaan A, Sniekers, Suzanne, Taskesen, Erdogan, Watanabe, Kyoko, Blanken, Tessa F, Dekker, Kim, te Lindert, Bart HW, Wassing, Rick, Jonsdottir, Ingileif, Thorleifsson, Gudmar, Stefansson, Hreinn, Gislason, Thorarinn, Berger, Klaus, Schormair, Barbara, Wellmann, Juergen, Winkelmann, Juliane, Stefansson, Kari, Oexle, Konrad, Van Someren, Eus JW, Posthuma, Danielle
Publicado 2017

Clinico-genetic findings in 509 frontotemporal dementia patients

por Wagner, Matias, Lorenz, Georg, Volk, Alexander E., Brunet, Theresa, Edbauer, Dieter, Berutti, Riccardo, Zhao, Chen, Anderl-Straub, Sarah, Bertram, Lars, Danek, Adrian, Deschauer, Marcus, Dill, Veronika, Fassbender, Klaus, Fliessbach, Klaus, Götze, Katharina S., Jahn, Holger, Kornhuber, Johannes, Landwehrmeyer, Bernhard, Lauer, Martin, Obrig, Hellmuth, Prudlo, Johannes, Schneider, Anja, Schroeter, Matthias L., Uttner, Ingo, Vukovich, Ruth, Wiltfang, Jens, Winkler, Andrea S., Zhou, Qihui, Ludolph, Albert C., Oexle, Konrad, Otto, Markus, Diehl-Schmid, Janine, Winkelmann, Juliane
Publicado 2021

Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium

por Fan, Qiao, Guo, Xiaobo, Tideman, J. Willem L., Williams, Katie M., Yazar, Seyhan, Hosseini, S. Mohsen, Howe, Laura D., Pourcain, Beaté St, Evans, David M., Timpson, Nicholas J., McMahon, George, Hysi, Pirro G., Krapohl, Eva, Wang, Ya Xing, Jonas, Jost B., Baird, Paul Nigel, Wang, Jie Jin, Cheng, Ching-Yu, Teo, Yik-Ying, Wong, Tien-Yin, Ding, Xiaohu, Wojciechowski, Robert, Young, Terri L., Pärssinen, Olavi, Oexle, Konrad, Pfeiffer, Norbert, Bailey-Wilson, Joan E., Paterson, Andrew D., Klaver, Caroline C. W., Plomin, Robert, Hammond, Christopher J., Mackey, David A., He, Mingguang, Saw, Seang-Mei, Williams, Cathy, Guggenheim, Jeremy A.
Publicado 2016

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

por Schormair, Barbara, Zhao, Chen, Bell, Steven, Tilch, Erik, Salminen, Aaro V, Pütz, Benno, Dauvilliers, Yves, Stefani, Ambra, Högl, Birgit, Poewe, Werner, Kemlink, David, Sonka, Karel, Bachmann, Cornelius G, Paulus, Walter, Trenkwalder, Claudia, Oertel, Wolfgang H, Hornyak, Magdolna, Teder-Laving, Maris, Metspalu, Andres, Hadjigeorgiou, Georgios M, Polo, Olli, Fietze, Ingo, Ross, Owen A, Wszolek, Zbigniew, Butterworth, Adam S, Soranzo, Nicole, Ouwehand, Willem H, Roberts, David J, Danesh, John, Allen, Richard P, Earley, Christopher J, Ondo, William G, Xiong, Lan, Montplaisir, Jacques, Gan-Or, Ziv, Perola, Markus, Vodicka, Pavel, Dina, Christian, Franke, Andre, Tittmann, Lukas, Stewart, Alexandre F R, Shah, Svati H, Gieger, Christian, Peters, Annette, Rouleau, Guy A, Berger, Klaus, Oexle, Konrad, Di Angelantonio, Emanuele, Hinds, David A, Müller-Myhsok, Bertram, Winkelmann, Juliane
Publicado 2017

Genome-Wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci

por Simpson, Claire L., Wojciechowski, Robert, Oexle, Konrad, Murgia, Federico, Portas, Laura, Li, Xiaohui, Verhoeven, Virginie J. M., Vitart, Veronique, Schache, Maria, Hosseini, S. Mohsen, Hysi, Pirro G., Raffel, Leslie J., Cotch, Mary Frances, Chew, Emily, Klein, Barbara E. K., Klein, Ronald, Wong, Tien Yin, van Duijn, Cornelia M., Mitchell, Paul, Saw, Seang Mei, Fossarello, Maurizio, Wang, Jie Jin, Polašek, Ozren, Campbell, Harry, Rudan, Igor, Oostra, Ben A., Uitterlinden, André G., Hofman, Albert, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart C., Vingerling, Johannes R., Döring, Angela, Bettecken, Thomas, Bencic, Goran, Gieger, Christian, Wichmann, H.-Erich, Wilson, James F., Venturini, Cristina, Fleck, Brian, Cumberland, Phillippa M., Rahi, Jugnoo S., Hammond, Chris J., Hayward, Caroline, Wright, Alan F., Paterson, Andrew D., Baird, Paul N., Klaver, Caroline C. W., Rotter, Jerome I., Pirastu, Mario, Meitinger, Thomas, Bailey-Wilson, Joan E., Stambolian, Dwight
Publicado 2014

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

por Benyamin, Beben, Esko, Tonu, Ried, Janina S, Radhakrishnan, Aparna, Vermeulen, Sita H, Traglia, Michela, Gögele, Martin, Anderson, Denise, Broer, Linda, Podmore, Clara, Luan, Jian’an, Kutalik, Zoltan, Sanna, Serena, van der Meer, Peter, Tanaka, Toshiko, Wang, Fudi, Westra, Harm-Jan, Franke, Lude, Mihailov, Evelin, Milani, Lili, Häldin, Jonas, Winkelmann, Juliane, Meitinger, Thomas, Thiery, Joachim, Peters, Annette, Waldenberger, Melanie, Rendon, Augusto, Jolley, Jennifer, Sambrook, Jennifer, Kiemeney, Lambertus A, Sweep, Fred C, Sala, Cinzia F, Schwienbacher, Christine, Pichler, Irene, Hui, Jennie, Demirkan, Ayse, Isaacs, Aaron, Amin, Najaf, Steri, Maristella, Waeber, Gérard, Verweij, Niek, Powell, Joseph E, Nyholt, Dale R, Heath, Andrew C, Madden, Pamela AF, Visscher, Peter M, Wright, Margaret J, Montgomery, Grant W, Martin, Nicholas G, Hernandez, Dena, Bandinelli, Stefania, van der Harst, Pim, Uda, Manuela, Vollenweider, Peter, Scott, Robert A, Langenberg, Claudia, Wareham, Nicholas J, van Duijn, Cornelia, Beilby, John, Pramstaller, Peter P, Hicks, Andrew A, Ouwehand, Willem H, Oexle, Konrad, Gieger, Christian, Metspalu, Andres, Camaschella, Clara, Toniolo, Daniela, Swinkels, Dorine W, Whitfield, John B
Publicado 2014

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

por Li, Qing, Wojciechowski, Robert, Simpson, Claire L., Hysi, Pirro G., Verhoeven, Virginie J. M., Ikram, Mohammad Kamran, Höhn, René, Vitart, Veronique, Hewitt, Alex W., Oexle, Konrad, Mäkelä, Kari-Matti, MacGregor, Stuart, Pirastu, Mario, Fan, Qiao, Cheng, Ching-Yu, St Pourcain, Beaté, McMahon, George, Kemp, John P., Northstone, Kate, Rahi, Jugnoo S., Cumberland, Phillippa M., Martin, Nicholas G., Sanfilippo, Paul G., Lu, Yi, Wang, Ya Xing, Hayward, Caroline, Polašek, Ozren, Campbell, Harry, Bencic, Goran, Wright, Alan F., Wedenoja, Juho, Zeller, Tanja, Schillert, Arne, Mirshahi, Alireza, Lackner, Karl, Yip, Shea Ping, Yap, Maurice K. H., Ried, Janina S., Gieger, Christian, Murgia, Federico, Wilson, James F., Fleck, Brian, Yazar, Seyhan, Vingerling, Johannes R., Hofman, Albert, Uitterlinden, André, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart, Oostra, Ben A., Zhou, Xin, Teo, Yik-Ying, Tai, E. Shyong, Vithana, Eranga, Barathi, Veluchamy, Zheng, Yingfeng, Siantar, Rosalynn Grace, Neelam, Kumari, Shin, Youchan, Lam, Janice, Yonova-Doing, Ekaterina, Venturini, Cristina, Hosseini, S. Mohsen, Wong, Hoi-Suen, Lehtimäki, Terho, Kähönen, Mika, Raitakari, Olli, Timpson, Nicholas J., Evans, David M., Khor, Chiea-Chuen, Aung, Tin, Young, Terri L., Mitchell, Paul, Klein, Barbara, van Duijn, Cornelia M., Meitinger, Thomas, Jonas, Jost B., Baird, Paul N., Mackey, David A., Wong, Tien Yin, Saw, Seang-Mei, Pärssinen, Olavi, Stambolian, Dwight, Hammond, Christopher J., Klaver, Caroline C. W., Williams, Cathy, Paterson, Andrew D., Bailey-Wilson, Joan E., Guggenheim, Jeremy A.
Publicado 2014

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

por Verhoeven, Virginie J. M., Hysi, Pirro G., Saw, Seang-Mei, Vitart, Veronique, Mirshahi, Alireza, Guggenheim, Jeremy A., Cotch, Mary Frances, Yamashiro, Kenji, Baird, Paul N., Mackey, David A., Wojciechowski, Robert, Ikram, M. Kamran, Hewitt, Alex W., Duggal, Priya, Janmahasatian, Sarayut, Khor, Chiea-Chuen, Fan, Qiao, Zhou, Xin, Young, Terri L., Tai, E-Shyong, Goh, Liang-Kee, Li, Yi-Ju, Aung, Tin, Vithana, Eranga, Teo, Yik-Ying, Tay, Wanting, Sim, Xueling, Rudan, Igor, Hayward, Caroline, Wright, Alan F., Polasek, Ozren, Campbell, Harry, Wilson, James F., Fleck, Brian W., Nakata, Isao, Yoshimura, Nagahisa, Yamada, Ryo, Matsuda, Fumihiko, Ohno-Matsui, Kyoko, Nag, Abhishek, McMahon, George, Pourcain, Beate St., Lu, Yi, Rahi, Jugnoo S., Cumberland, Phillippa M., Bhattacharya, Shomi, Simpson, Claire L., Atwood, Larry D., Li, Xiaohui, Raffel, Leslie J., Murgia, Federico, Portas, Laura, Despriet, Dominiek D. G., van Koolwijk, Leonieke M. E., Wolfram, Christian, Lackner, Karl J., Tönjes, Anke, Mägi, Reedik, Lehtimäki, Terho, Kähönen, Mika, Esko, Tõnu, Metspalu, Andres, Rantanen, Taina, Pärssinen, Olavi, Klein, Barbara E., Meitinger, Thomas, Spector, Timothy D., Oostra, Ben A., Smith, Albert V., de Jong, Paulus T. V. M., Hofman, Albert, Amin, Najaf, Karssen, Lennart C., Rivadeneira, Fernando, Vingerling, Johannes R., Eiríksdóttir, Guðný, Gudnason, Vilmundur, Döring, Angela, Bettecken, Thomas, Uitterlinden, André G., Williams, Cathy, Zeller, Tanja, Castagné, Raphaële, Oexle, Konrad, van Duijn, Cornelia M., Iyengar, Sudha K., Mitchell, Paul, Wang, Jie Jin, Höhn, René, Pfeiffer, Norbert, Bailey-Wilson, Joan E., Stambolian, Dwight, Wong, Tien-Yin, Hammond, Christopher J., Klaver, Caroline C. W.
Publicado 2012

Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error

por Fan, Qiao, Verhoeven, Virginie J. M., Wojciechowski, Robert, Barathi, Veluchamy A., Hysi, Pirro G., Guggenheim, Jeremy A., Höhn, René, Vitart, Veronique, Khawaja, Anthony P., Yamashiro, Kenji, Hosseini, S Mohsen, Lehtimäki, Terho, Lu, Yi, Haller, Toomas, Xie, Jing, Delcourt, Cécile, Pirastu, Mario, Wedenoja, Juho, Gharahkhani, Puya, Venturini, Cristina, Miyake, Masahiro, Hewitt, Alex W., Guo, Xiaobo, Mazur, Johanna, Huffman, Jenifer E., Williams, Katie M., Polasek, Ozren, Campbell, Harry, Rudan, Igor, Vatavuk, Zoran, Wilson, James F., Joshi, Peter K., McMahon, George, St Pourcain, Beate, Evans, David M., Simpson, Claire L., Schwantes-An, Tae-Hwi, Igo, Robert P., Mirshahi, Alireza, Cougnard-Gregoire, Audrey, Bellenguez, Céline, Blettner, Maria, Raitakari, Olli, Kähönen, Mika, Seppala, Ilkka, Zeller, Tanja, Meitinger, Thomas, Ried, Janina S., Gieger, Christian, Portas, Laura, van Leeuwen, Elisabeth M., Amin, Najaf, Uitterlinden, André G., Rivadeneira, Fernando, Hofman, Albert, Vingerling, Johannes R., Wang, Ya Xing, Wang, Xu, Tai-Hui Boh, Eileen, Ikram, M. Kamran, Sabanayagam, Charumathi, Gupta, Preeti, Tan, Vincent, Zhou, Lei, Ho, Candice E. H., Lim, Wan'e, Beuerman, Roger W., Siantar, Rosalynn, Tai, E-Shyong, Vithana, Eranga, Mihailov, Evelin, Khor, Chiea-Chuen, Hayward, Caroline, Luben, Robert N., Foster, Paul J., Klein, Barbara E. K., Klein, Ronald, Wong, Hoi-Suen, Mitchell, Paul, Metspalu, Andres, Aung, Tin, Young, Terri L., He, Mingguang, Pärssinen, Olavi, van Duijn, Cornelia M., Jin Wang, Jie, Williams, Cathy, Jonas, Jost B., Teo, Yik-Ying, Mackey, David A., Oexle, Konrad, Yoshimura, Nagahisa, Paterson, Andrew D., Pfeiffer, Norbert, Wong, Tien-Yin, Baird, Paul N., Stambolian, Dwight, Wilson, Joan E. Bailey, Cheng, Ching-Yu, Hammond, Christopher J., Klaver, Caroline C. W., Saw, Seang-Mei, Rahi, Jugnoo S., Korobelnik, Jean-François, Kemp, John P., Timpson, Nicholas J., Smith, George Davey, Craig, Jamie E., Burdon, Kathryn P., Fogarty, Rhys D., Iyengar, Sudha K., Chew, Emily, Janmahasatian, Sarayut, Martin, Nicholas G., MacGregor, Stuart, Xu, Liang, Schache, Maria, Nangia, Vinay, Panda-Jonas, Songhomitra, Wright, Alan F., Fondran, Jeremy R., Lass, Jonathan H., Feng, Sheng, Zhao, Jing Hua, Khaw, Kay-Tee, Wareham, Nick J., Rantanen, Taina, Kaprio, Jaakko, Pang, Chi Pui, Chen, Li Jia, Tam, Pancy O., Jhanji, Vishal, Young, Alvin L., Döring, Angela, Raffel, Leslie J., Cotch, Mary-Frances, Li, Xiaohui, Yip, Shea Ping, Yap, Maurice K.H., Biino, Ginevra, Vaccargiu, Simona, Fossarello, Maurizio, Fleck, Brian, Yazar, Seyhan, Tideman, Jan Willem L., Tedja, Milly, Deangelis, Margaret M., Morrison, Margaux, Farrer, Lindsay, Zhou, Xiangtian, Chen, Wei, Mizuki, Nobuhisa, Meguro, Akira, Mäkelä, Kari Matti
Publicado 2016