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Fernandes-Rosa, Fabio Luiz;Williams, Tracy Ann;Riester, Anna;Steichen, Olivier;Beuschlein, Felix;Boulkroun, Sheerazed;Strom, Tim M;Monticone, Silvia;Amar, Laurence;Meatchi, Tchao;Mantero, Franco;Cicala, Maria-Verena;Quinkler, Marcus;Fallo, Francesco;Allolio, Bruno;Bernini, Giampaolo;Maccario, Mauro;Giacchetti, Gilberta;Jeunemaitre, Xavier;Mulatero, Paolo;Reincke, Martin;Zennaro, Maria-Christina
Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.
Hypertension
2014
64
2
354-61

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Eichenmüller, Melanie;Trippel, Franziska;Kreuder, Michaela;Beck, Alexander;Schwarzmayr, Thomas;Häberle, Beate;Cairo, Stefano;Leuschner, Ivo;von Schweinitz, Dietrich;Strom, Tim M;Kappler, Roland
The genomic landscape of hepatoblastoma and their progenies with HCC-like features.
J Hepatol
2014
61
6
1312-20

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Schabhüttl, Maria;Wieland, Thomas;Senderek, Jan;Baets, Jonathan;Timmerman, Vincent;De Jonghe, Peter;Reilly, Mary M;Stieglbauer, Karl;Laich, Eva;Windhager, Reinhard;Erwa, Wolfgang;Trajanoski, Slave;Strom, Tim M;Auer-Grumbach, Michaela
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
J Neurol
2014
261
5
970-82

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Synofzik, Matthis;Müller Vom Hagen, Jennifer;Haack, Tobias B;Wilhelm, Christian;Lindig, Tobias;Beck-Wödl, Stefanie;Nabuurs, Sander B;van Kuilenburg, André B P;de Brouwer, Arjan P M;Schöls, Ludger
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.
Orphanet J Rare Dis
2014
9
24

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Baquero-Montoya, C;Gil-Rodríguez, M C;Braunholz, D;Teresa-Rodrigo, M E;Obieglo, C;Gener, B;Schwarzmayr, T;Strom, T M;Gómez-Puertas, P;Puisac, B;Gillessen-Kaesbach, G;Musio, A;Ramos, F J;Kaiser, F J;Pié, J
Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
Clin Genet
2014
86
6
595-7

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Fischer, Dirk;Schabhüttl, Maria;Wieland, Thomas;Windhager, Reinhard;Strom, Tim M;Auer-Grumbach, Michaela
A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.
Brain
2014
137
Pt 7
e286

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Sheikhzadeh, S;Brockstaedt, L;Habermann, C R;Sondermann, C;Bannas, P;Mir, T S;Staebler, A;Seidel, H;Keyser, B;Arslan-Kirchner, M;Kutsche, K;Berger, J;Blankenberg, S;von Kodolitsch, Y
Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation.
Clin Genet
2014
86
6
545-51

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Matyas, Gabor;Naef, Paulina;Tollens, Martin;Oexle, Konrad
De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features.
Am J Med Genet A
2014
164A
8
2141-3

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Haghighi, Alireza;Haack, Tobias B;Atiq, Mehnaz;Mottaghi, Hassan;Haghighi-Kakhki, Hamidreza;Bashir, Rani A;Ahting, Uwe;Feichtinger, René G;Mayr, Johannes A;Rötig, Agnes;Lebre, Anne-Sophie;Klopstock, Thomas;Dworschak, Andrea;Pulido, Nathan;Saeed, Mahmood A;Saleh-Gohari, Nasrollah;Holzerova, Eliska;Chinnery, Patrick F;Taylor, Robert W;Prokisch, Holger
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Orphanet J Rare Dis
2014
9
119

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Wood, Andrew R;Esko, Tõnu;Yang, Jian;Vedantam, Sailaja;Pers, Tune H;Gustafsson, Stefan;Chu, Audrey Y;Estrada, Karol;Luan, Jian'an;Kutalik, Zoltan;Amin, Najaf;Buchkovich, Martin L;Croteau-Chonka, Damien C;Day, Felix R;Duan, Yanan;Fall, Tove;Fehrmann, Rudolf;Ferreira, Teresa;Jackson, Anne U;Karjalainen, Juha;Lo, Ken Sin;Locke, Adam E;Mägi, Reedik;Mihailov, Evelin;Porcu, Eleonora;Randall, Joshua C;Scherag, André;Vinkhuyzen, Anna A E;Westra, Harm-Jan;Winkler, Thomas W;Workalemahu, Tsegaselassie;Zhao, Jing Hua;Absher, Devin;Albrecht, Eva;Anderson, Denise;Baron, Jeffrey;Beekman, Marian;Demirkan, Ayse;Ehret, Georg B;Feenstra, Bjarke;Feitosa, Mary F;Fischer, Krista;Fraser, Ross M;Goel, Anuj;Gong, Jian;Justice, Anne E;Kanoni, Stavroula;Kleber, Marcus E;Kristiansson, Kati;Lim, Unhee;Lotay, Vaneet;Lui, Julian C;Mangino, Massimo;Mateo Leach, Irene;Medina-Gomez, Carolina;Nalls, Michael A;Nyholt, Dale R;Palmer, Cameron D;Pasko, Dorota;Pechlivanis, Sonali;Prokopenko, Inga;Ried, Janina S;Ripke, Stephan;Shungin, Dmitry;Stančáková, Alena;Strawbridge, Rona J;Sung, Yun Ju;Tanaka, Toshiko;Teumer, Alexander;Trompet, Stella;van der Laan, Sander W;van Setten, Jessica;Van Vliet-Ostaptchouk, Jana V;Wang, Zhaoming;Yengo, Loic;Zhang, Weihua;Afzal, Uzma;Ärnlöv, Johan;Arscott, Gillian M;Bandinelli, Stefania;Barrett, Amy;Bellis, Claire;Bennett, Amanda J;Berne, Christian;Blüher, Matthias;Bolton, Jennifer L;Böttcher, Yvonne;Boyd, Heather A;Bruinenberg, Marcel;Buckley, Brendan M;Buyske, Steven;Caspersen, Ida H;Chines, Peter S;Clarke, Robert;Claudi-Boehm, Simone;Cooper, Matthew;Daw, E Warwick;de Jong, Pim A;Deelen, Joris;Delgado, Graciela;Denny, Josh C;Dhonukshe-Rutten, Rosalie;Dimitriou, Maria;Doney, Alex S F;Dörr, Marcus;Eklund, Niina;Eury, Elodie;Folkersen, Lasse;Garcia, Melissa E;Geller, Frank;Giedraitis, Vilmantas;Go, Alan S;Grallert, Harald;Grammer, Tanja B;Gräßler, Jürgen;Gronberg, Henrik;de Groot, Lisette C P G M;Groves, Christopher J;Haessler, Jeffrey;Hall, Per;Haller, Toomas;Hallmans, Göran;Hannemann, Anke;Hartman, Catharina A;Hassinen, Maija;Hayward, Caroline;Heard-Costa, Nancy L;Helmer, Quinta;Hemani, Gibran;Henders, Anjali K;Hillege, Hans L;Hlatky, Mark A;Hoffmann, Wolfgang;Hoffmann, Per;Holmen, Oddgeir;Houwing-Duistermaat, Jeanine J;Illig, Thomas;Isaacs, Aaron;James, Alan L;Jeff, Janina;Johansen, Berit;Johansson, Åsa;Jolley, Jennifer;Juliusdottir, Thorhildur;Junttila, Juhani;Kho, Abel N;Kinnunen, Leena;Klopp, Norman;Kocher, Thomas;Kratzer, Wolfgang;Lichtner, Peter;Lind, Lars;Lindström, Jaana;Lobbens, Stéphane;Lorentzon, Mattias;Lu, Yingchang;Lyssenko, Valeriya;Magnusson, Patrik K E;Mahajan, Anubha;Maillard, Marc;McArdle, Wendy L;McKenzie, Colin A;McLachlan, Stela;McLaren, Paul J;Menni, Cristina;Merger, Sigrun;Milani, Lili;Moayyeri, Alireza;Monda, Keri L;Morken, Mario A;Müller, Gabriele;Müller-Nurasyid, Martina;Musk, Arthur W;Narisu, Narisu;Nauck, Matthias;Nolte, Ilja M;Nöthen, Markus M;Oozageer, Laticia;Pilz, Stefan;Rayner, Nigel W;Renström, Frida;Robertson, Neil R;Rose, Lynda M;Roussel, Ronan;Sanna, Serena;Scharnagl, Hubert;Scholtens, Salome;Schumacher, Fredrick R;Schunkert, Heribert;Scott, Robert A;Sehmi, Joban;Seufferlein, Thomas;Shi, Jianxin;Silventoinen, Karri;Smit, Johannes H;Smith, Albert Vernon;Smolonska, Joanna;Stanton, Alice V;Stirrups, Kathleen;Stott, David J;Stringham, Heather M;Sundström, Johan;Swertz, Morris A;Syvänen, Ann-Christine;Tayo, Bamidele O;Thorleifsson, Gudmar;Tyrer, Jonathan P;van Dijk, Suzanne;van Schoor, Natasja M;van der Velde, Nathalie;van Heemst, Diana;van Oort, Floor V A;Vermeulen, Sita H;Verweij, Niek;Vonk, Judith M;Waite, Lindsay L;Waldenberger, Melanie;Wennauer, Roman;Wilkens, Lynne R;Willenborg, Christina;Wilsgaard, Tom;Wojczynski, Mary K;Wong, Andrew;Wright, Alan F;Zhang, Qunyuan;Arveiler, Dominique;Bakker, Stephan J L;Beilby, John;Bergman, Richard N;Bergmann, Sven;Biffar, Reiner;Blangero, John;Boomsma, Dorret I;Bornstein, Stefan R;Bovet, Pascal;Brambilla, Paolo;Brown, Morris J;Campbell, Harry;Caulfield, Mark J;Chakravarti, Aravinda;Collins, Rory;Collins, Francis S;Crawford, Dana C;Cupples, L Adrienne;Danesh, John;de Faire, Ulf;den Ruijter, Hester M;Erbel, Raimund;Erdmann, Jeanette;Eriksson, Johan G;Farrall, Martin;Ferrannini, Ele;Ferrières, Jean;Ford, Ian;Forouhi, Nita G;Forrester, Terrence;Gansevoort, Ron T;Gejman, Pablo V;Gieger, Christian;Golay, Alain;Gottesman, Omri;Gudnason, Vilmundur;Gyllensten, Ulf;Haas, David W;Hall, Alistair S;Harris, Tamara B;Hattersley, Andrew T;Heath, Andrew C;Hengstenberg, Christian;Hicks, Andrew A;Hindorff, Lucia A;Hingorani, Aroon D;Hofman, Albert;Hovingh, G Kees;Humphries, Steve E;Hunt, Steven C;Hyppönen, Elina;Jacobs, Kevin B;Järvelin, Marjo-Riitta;Jousilahti, Pekka;Jula, Antti M;Kaprio, Jaakko;Kastelein, John J P;Kayser, Manfred;Kee, Frank;Keinanen-Kiukaanniemi, Sirkka M;Kiemeney, Lambertus A;Kooner, Jaspal S;Kooperberg, Charles;Koskinen, Seppo;Kovacs, Peter;Kraja, Aldi T;Kumari, Meena;Kuusisto, Johanna;Lakka, Timo A;Langenberg, Claudia;Le Marchand, Loic;Lehtimäki, Terho;Lupoli, Sara;Madden, Pamela A F;Männistö, Satu;Manunta, Paolo;Marette, André;Matise, Tara C;McKnight, Barbara;Meitinger, Thomas;Moll, Frans L;Montgomery, Grant W;Morris, Andrew D;Morris, Andrew P;Murray, Jeffrey C;Nelis, Mari;Ohlsson, Claes;Oldehinkel, Albertine J;Ong, Ken K;Ouwehand, Willem H;Pasterkamp, Gerard;Peters, Annette;Pramstaller, Peter P;Price, Jackie F;Qi, Lu;Raitakari, Olli T;Rankinen, Tuomo;Rao, D C;Rice, Treva K;Ritchie, Marylyn;Rudan, Igor;Salomaa, Veikko;Samani, Nilesh J;Saramies, Jouko;Sarzynski, Mark A;Schwarz, Peter E H;Sebert, Sylvain;Sever, Peter;Shuldiner, Alan R;Sinisalo, Juha;Steinthorsdottir, Valgerdur;Stolk, Ronald P;Tardif, Jean-Claude;Tönjes, Anke;Tremblay, Angelo;Tremoli, Elena;Virtamo, Jarmo;Vohl, Marie-Claude;Amouyel, Philippe;Asselbergs, Folkert W;Assimes, Themistocles L;Bochud, Murielle;Boehm, Bernhard O;Boerwinkle, Eric;Bottinger, Erwin P;Bouchard, Claude;Cauchi, Stephane;Chambers, John C;Chanock, Stephen J;Cooper, Richard S;de Bakker, Paul I W;Dedoussis, George;Ferrucci, Luigi;Franks, Paul W;Froguel, Philippe;Groop, Leif C;Haiman, Christopher A;Hamsten, Anders;Hayes, M Geoffrey;Hui, Jennie;Hunter, David J;Hveem, Kristian;Jukema, J Wouter;Kaplan, Robert C;Kivimäki, Mika;Kuh, Diana;Laakso, Markku;Liu, Yongmei;Martin, Nicholas G;März, Winfried;Melbye, Mads;Moebus, Susanne;Munroe, Patricia B;Njølstad, Inger;Oostra, Ben A;Palmer, Colin N A;Pedersen, Nancy L;Perola, Markus;Pérusse, Louis;Peters, Ulrike;Powell, Joseph E;Power, Chris;Quertermous, Thomas;Rauramaa, Rainer;Reinmaa, Eva;Ridker, Paul M;Rivadeneira, Fernando;Rotter, Jerome I;Saaristo, Timo E;Saleheen, Danish;Schlessinger, David;Slagboom, P Eline;Snieder, Harold;Spector, Tim D;Strauch, Konstantin;Stumvoll, Michael;Tuomilehto, Jaakko;Uusitupa, Matti;van der Harst, Pim;Völzke, Henry;Walker, Mark;Wareham, Nicholas J;Watkins, Hugh;Wichmann, H-Erich;Wilson, James F;Zanen, Pieter;Deloukas, Panos;Heid, Iris M;Lindgren, Cecilia M;Mohlke, Karen L;Speliotes, Elizabeth K;Thorsteinsdottir, Unnur;Barroso, Ines;Fox, Caroline S;North, Kari E;Strachan, David P;Beckmann, Jacques S;Berndt, Sonja I;Boehnke, Michael;Borecki, Ingrid B;McCarthy, Mark I;Metspalu, Andres;Stefansson, Kari;Uitterlinden, Andre G;van Duijn, Cornelia M;Franke, Lude;Willer, Cristen J;Price, Alkes L;Lettre, Guillaume;Loos, Ruth J F;Weedon, Michael N;Ingelsson, Erik;O'Connell, Jeffrey R;Abecasis, Goncalo R;Chasman, Daniel I;Goddard, Michael E;Visscher, Peter M;Hirschhorn, Joel N;Frayling, Timothy M
Defining the role of common variation in the genomic and biological architecture of adult human height.
Nat Genet
2014
46
11
1173-86