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

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

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

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

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

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

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

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

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

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, 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Defining the role of common variation in the genomic and biological architecture of adult human height.
Nat Genet
2014
46
11
1173-86