Haack, T;Strom, T;Freisinger, P;Ahting, U;Rolinski, B;Mayr, J;Sperl, W;Meitinger, T;Prokisch, H
Exome sequencing as an approach to identify disease causing mutations in pediatric patients with mitochondrial diseases
Mitochondrion
2013
13
6
920-920

de Vries, B;Freilinger, T;Anttila, V;Malik, R;Kallela, M;Terwindt, GM;Pozo-Rosich, P;Winsvold, B;Nyholt, DR;van Oosterhout, WPJ;Artto, V;Todt, U;Hämäläinen, E;Fernández-Morales, J;Louter, MA;Kaunisto, MA;Schoenen, J;Raitakari, O;Lehtimäki, T;Vila-Pueyo, M;Gobel, H;Wichmann, E;Sintas, C;Uitterlinden, AG;Hofman, A;Rivadeneira, F;Heinze, A;Tronvik, E;van Duijn, CM;Kaprio, J;Cormand, B;Wessman, M;Frants, RR;Meitinger, T;Müller-Myhsok, B;Zwart, JA;Färkkilä, M;Macaya, A;Ferrari, MD;Kubisch, C;Palotie, A;Dichgans, M;van den Maagdenberg, AMJM
Migraine without aura: genome-wide association analysis identifies several novel susceptibility
J Headache Pain
2013
14 1
P18-

Freisinger, P;Haack, T;Mayr, J;Plecko, B;Ahting, U;Rolinski, B;Willichowski, E;Sperl;Prokisch, H
Phenotypic spectrum of 7 patients and 4 novel MTFMT mutations
Mitochondrion
2013
13
6
920-920

Sperl, W;Mayr, JA;Haack, TB;Zimmermann, FA;Meitinger, T;Prokisch, H
Sengers syndrome is caused by a deficiency of the acylglycerol kinase
Mitochondrion
2013
13
6
909-909

Freisinger, P;Haberberger, B;Strecker, V;Steger, M;Heim, K;Ahting, U;Rolinski, B;Mayr, J;Rötig, A;Sperl, W;Zeviani, M;Wittig, I;Meitinger, T;Prokisch, H
Bezafibrate as treatment option in patients with mitochondrial complex I deficiency
Mitochondrion
2013
13
6
920-921

Freisinger, P;Mayr, JA;Scheffner, T;Makowski, C;Koch, J;Ahting, U;Zimmermann, FA;Schlachter, K;Prokisch, H;Sperl, W
Thiamine-pyrophospholdnase-deficiency: Clinical and genotypic spectrum in 5 patients
Mitochondrion
2013
13
6
921-921

O'Seaghdha, Conall M;Wu, Hongsheng;Yang, Qiong;Kapur, Karen;Guessous, Idris;Zuber, Annie Mercier;Köttgen, Anna;Stoudmann, Candice;Teumer, Alexander;Kutalik, Zoltan;Mangino, Massimo;Dehghan, Abbas;Zhang, Weihua;Eiriksdottir, Gudny;Li, Guo;Tanaka, Toshiko;Portas, Laura;Lopez, Lorna M;Hayward, Caroline;Lohman, Kurt;Matsuda, Koichi;Padmanabhan, Sandosh;Firsov, Dmitri;Sorice, Rossella;Ulivi, Sheila;Brockhaus, A Catharina;Kleber, Marcus E;Mahajan, Anubha;Ernst, Florian D;Gudnason, Vilmundur;Launer, Lenore J;Macé, Aurélien;Boerwinckle, Eric;Arking, Dan E;Tanikawa, Chizu;Nakamura, Yusuke;Brown, Morris J;Gaspoz, Jean-Michel;Theler, Jean-Marc;Siscovick, David S;Psaty, Bruce M;Bergmann, Sven;Vollenweider, Peter;Vitart, Veronique;Wright, Alan F;Zemunik, Tatijana;Boban, Mladen;Kolcic, Ivana;Navarro, Pau;Brown, Edward M;Estrada, Karol;Ding, Jingzhong;Harris, Tamara B;Bandinelli, Stefania;Hernandez, Dena;Singleton, Andrew B;Girotto, Giorgia;Ruggiero, Daniela;D'adamo, Adamo Pio;Robino, Antonietta;Meitinger, Thomas;Meisinger, Christa;Davies, Gail;Starr, John M;Chambers, John C;Boehm, Bernhard O;Winkelmann, Bernhard R;Huang, Jie;Murgia, Federico;Wild, Sarah H;Campbell, Harry;Morris, Andrew P;Franco, Oscar H;Hofman, Albert;Uitterlinden, Andre G;Rivadeneira, Fernando;Völker, Uwe;Hannemann, Anke;Biffar, Reiner;Hoffmann, Wolfgang;Shin, So-Youn;Lescuyer, Pierre;Henry, Hughes;Schurmann, Claudia;Munroe, Patricia B;Gasparini, Paolo;Pirastu, Nicola;Ciullo, Marina;Gieger, Christian;März, Winfried;Lind, Lars;Spector, Tim D;Smith, Albert V;Rudan, Igor;Wilson, James F;Polasek, Ozren;Deary, Ian J;Pirastu, Mario;Ferrucci, Luigi;Liu, Yongmei;Kestenbaum, Bryan;Kooner, Jaspal S;Witteman, Jacqueline C M;Nauck, Matthias;Kao, W H Linda;Wallaschofski, Henri;Bonny, Olivier;Fox, Caroline S;Bochud, Murielle
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
PLoS Genet
2013
9
9
e1003796

Kornblum, C;Nicholls, T;Haack, TB;Schoeler, S;Peeva, V;Danhauser, K;Hallmann, K;Zsurka, G;Rorbach, J;Iuso, A;Wieland, T;Sciacco, M;Ronchi, D;Comi, GP;Moggio, M;Quinzii, CM;DiMauro, S;Calvo, SE;Mootha, VK;Klopstock, T;Strom, TM;Meitinger, T;Minczuk, M;Kunz, WS;Prokisch, H
Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder
Neuromuscul Disord
2013
23
9-10
852-852

Hackmann, K;Stadler, A;Schallner, J;Franke, K;Gerlach, EM;Schröck, E;Rump, A;Fauth, C;Tinschert, S;Oexle, K
Severe Intellectual Disability, West Syndrome, Dandy-Walker Malformation, and Syndactyly in a Patient With Partial Tetrasomy 17q25.3
Am J Med Genet A
2013
161
12
3144-9

Verhoeven, VJM;Hysi, PG;Wojciechowski, R;Fan, Q;Guggenheim, JA;Hohn, R;Macgregor, S;Hewitt, AW;Nag, A;Cheng, CY;Yonova-Doing, E;Zhou, X;Ikram, MK;Buitendijk, GHS;McMahon, G;Kemp, JP;St Pourcain, B;Simpson, CL;Mäkelä, KM;Lehtimäki, T;Kähönen, M;Paterson, AD;Hosseini, SM;Wong, HS;Xu, L;Jonas, JB;Parssinen, O;Wedenoja, J;Yip, SP;Ho, DWH;Pang, CP;Chen, LJ;Burdon, KP;Craig, JE;Klein, BEK;Klein, R;Haller, T;Metspalu, A;Khor, CC;Tai, ES;Aung, T;Vithana, E;Tay, WT;Barathi, VA;Chen, P;Li, RY;Liao, JM;Zheng, YF;Ong, RT;Döring, A;Evans, DM;Timpson, NJ;Verkerk, AJMH;Meitinger, T;Raitakari, O;Hawthorne, F;Spector, TD;Karssen, LC;Pirastu, M;Murgia, F;Ang, W;Mishra, A;Montgomery, GW;Pennell, CE;Cumberland, PM;Cotlarciuc, I;Mitchell, P;Wang, JJ;Schache, M;Janmahasathian, S;Igo, RP;Lass, JH;Chew, E;KIyengar, S;Gorgels, TGMF;Rudan, I;Hayward, C;Wright, AF;Polasek, O;Vatavuk, Z;Wilson, JF;Fleck, B;Zeller, T;Mirshahi, A;Müller, C;Uitterlinden, AG;Rivadeneira, F;Vingerling, JR;Hofman, A;Oostra, BA;Amin, N;Bergen, AAB;Teo, YY;Rahi, JS;Vitart, V;Williams, C;Baird, PN;Wong, TY;Oexle, K;Pfeiffer, N;Mackey, DA;Young, TL;van Duijn, CM;Saw, SM;Bailey-Wilson, JE;Stambolian, D;Klaver, CC;Hammond, CJ
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (vol 45, pg 314, 2013)
Nat Genet
2013
45
6
712