Flannick, Jason;Fuchsberger, Christian;Mahajan, Anubha;Teslovich, Tanya M;Agarwala, Vineeta;Gaulton, Kyle J;Caulkins, Lizz;Koesterer, Ryan;Ma, Clement;Moutsianas, Loukas;McCarthy, Davis J;Rivas, Manuel A;Perry, John R B;Sim, Xueling;Blackwell, Thomas W;Robertson, Neil R;Rayner, N William;Cingolani, Pablo;Locke, Adam E;Tajes, Juan Fernandez;Highland, Heather M;Dupuis, Josée;Chines, Peter S;Lindgren, Cecilia M;Hartl, Christopher;Jackson, Anne U;Chen, Han;Huyghe, Jeroen R;van de Bunt, Martijn;Pearson, Richard D;Kumar, Ashish;Müller-Nurasyid, Martina;Grarup, Niels;Stringham, Heather M;Gamazon, Eric R;Lee, Jaehoon;Chen, Yuhui;Scott, Robert A;Below, Jennifer E;Chen, Peng;Huang, Jinyan;Go, Min Jin;Stitzel, Michael L;Pasko, Dorota;Parker, Stephen C J;Varga, Tibor V;Green, Todd;Beer, Nicola L;Day-Williams, Aaron G;Ferreira, Teresa;Fingerlin, Tasha;Horikoshi, Momoko;Hu, Cheng;Huh, Iksoo;Ikram, Mohammad Kamran;Kim, Bong-Jo;Kim, Yongkang;Kim, Young Jin;Kwon, Min-Seok;Lee, Juyoung;Lee, Selyeong;Lin, Keng-Han;Maxwell, Taylor J;Nagai, Yoshihiko;Wang, Xu;Welch, Ryan P;Yoon, Joon;Zhang, Weihua;Barzilai, Nir;Voight, Benjamin F;Han, Bok-Ghee;Jenkinson, Christopher P;Kuulasmaa, Teemu;Kuusisto, Johanna;Manning, Alisa;Ng, Maggie C Y;Palmer, Nicholette D;Balkau, Beverley;Stan?áková, Alena;Abboud, Hanna E;Boeing, Heiner;Giedraitis, Vilmantas;Prabhakaran, Dorairaj;Gottesman, Omri;Scott, James;Carey, Jason;Kwan, Phoenix;Grant, George;Smith, Joshua D;Neale, Benjamin M;Purcell, Shaun;Butterworth, Adam S;Howson, Joanna M M;Lee, Heung Man;Lu, Yingchang;Kwak, Soo-Heon;Zhao, Wei;Danesh, John;Lam, Vincent K L;Park, Kyong Soo;Saleheen, Danish;So, Wing Yee;Tam, Claudia H T;Afzal, Uzma;Aguilar, David;Arya, Rector;Aung, Tin;Chan, Edmund;Navarro, Carmen;Cheng, Ching-Yu;Palli, Domenico;Correa, Adolfo;Curran, Joanne E;Rybin, Dennis;Farook, Vidya S;Fowler, Sharon P;Freedman, Barry I;Griswold, Michael;Hale, Daniel Esten;Hicks, Pamela J;Khor, Chiea-Chuen;Kumar, Satish;Lehne, Benjamin;Thuillier, Dorothee;Lim, Wei Yen;Liu, Jianjun;Loh, Marie;Musani, Solomon K;Puppala, Sobha;Scott, William R;Yengo, Loic;Tan, Sian-Tsung;Taylor, Herman A;Thameem, Farook;Wilson, Gregory;Wong, Tien Yin;Njølstad, Pål Rasmus;Levy, Jonathan C;Mangino, Massimo;Bonnycastle, Lori L;Schwarzmayr, Thomas;Fadista, Joao;Surdulescu, Gabriela L;Herder, Christian;Groves, Christopher J;Wieland, Thomas;Bork-Jensen, Jette;Brandslund, Ivan;Christensen, Cramer;Koistinen, Heikki A;Doney, Alex S F;Kinnunen, Leena;Esko, Tõnu;Farmer, Andrew J;Hakaste, Liisa;Hodgkiss, Dylan;Kravic, Jasmina;Lyssenko, Valeri;Hollensted, Mette;Jørgensen, Marit E;Jørgensen, Torben;Ladenvall, Claes;Justesen, Johanne Marie;Käräjämäki, Annemari;Kriebel, Jennifer;Rathmann, Wolfgang;Lannfelt, Lars;Lauritzen, Torsten;Narisu, Narisu;Linneberg, Allan;Melander, Olle;Milani, Lili;Neville, Matt;Orho-Melander, Marju;Qi, Lu;Qi, Qibin;Roden, Michael;Rolandsson, Olov;Swift, Amy;Rosengren, Anders H;Stirrups, Kathleen;Wood, Andrew R;Mihailov, Evelin;Blancher, Christine;Carneiro, Mauricio O;Maguire, Jared;Poplin, Ryan;Shakir, Khalid;Fennell, Timothy;DePristo, Mark;de Angelis, Martin Hrabe;Deloukas, Panos;Gjesing, Anette P;Jun, Goo;Nilsson, Peter;Murphy, Jacquelyn;Onofrio, Robert;Thorand, Barbara;Hansen, Torben;Meisinger, Christa;Hu, Frank B;Isomaa, Bo;Karpe, Fredrik;Liang, Liming;Peters, Annette;Huth, Cornelia;O'Rahilly, Stephen P;Palmer, Colin N A;Pedersen, Oluf;Rauramaa, Rainer;Tuomilehto, Jaakko;Salomaa, Veikko;Watanabe, Richard M;Syvänen, Ann-Christine;Bergman, Richard N;Bharadwaj, Dwaipayan;Bottinger, Erwin P;Cho, Yoon Shin;Chandak, Giriraj R;Chan, Juliana C N;Chia, Kee Seng;Daly, Mark J;Ebrahim, Shah B;Langenberg, Claudia;Elliott, Paul;Jablonski, Kathleen A;Lehman, Donna M;Jia, Weiping;Ma, Ronald C W;Pollin, Toni I;Sandhu, Manjinder;Tandon, Nikhil;Froguel, Philippe;Barroso, Ines;Teo, Yik Ying;Zeggini, Eleftheria;Loos, Ruth J F;Small, Kerrin S;Ried, Janina S;DeFronzo, Ralph A;Grallert, Harald;Glaser, Benjamin;Metspalu, Andres;Wareham, Nicholas J;Walker, Mark;Banks, Eric;Gieger, Christian;Ingelsson, Erik;Im, Hae Kyung;Illig, Thomas;Franks, Paul W;Buck, Gemma;Trakalo, Joseph;Buck, David;Prokopenko, Inga;Mägi, Reedik;Lind, Lars;Farjoun, Yossi;Owen, Katharine R;Gloyn, Anna L;Strauch, Konstantin;Tuomi, Tiinamaija;Kooner, Jaspal Singh;Lee, Jong-Young;Park, Taesung;Donnelly, Peter;Morris, Andrew D;Hattersley, Andrew T;Bowden, Donald W;Collins, Francis S;Atzmon, Gil;Chambers, John C;Spector, Timothy D;Laakso, Markku;Strom, Tim M;Bell, Graeme I;Blangero, John;Duggirala, Ravindranath;Tai, E Shyong;McVean, Gilean;Hanis, Craig L;Wilson, James G;Seielstad, Mark;Frayling, Timothy M;Meigs, James B;Cox, Nancy J;Sladek, Rob;Lander, Eric S;Gabriel, Stacey;Mohlke, Karen L;Meitinger, Thomas;Groop, Leif;Abecasis, Goncalo;Scott, Laura J;Morris, Andrew P;Kang, Hyun Min;Altshuler, David;Burtt, Noël P;Florez, Jose C;Boehnke, Michael;McCarthy, Mark I
Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.
Sci Data
2018
5
180002

Stauber, J;Einhaeupl, M;Wagner, M;Roeber, S;Klopstock, T
Mitochondrial ATP6 mutation m.9176T > C leading to mild late-onset manifestation of a neurologic multisystem disorder
Eur J Neurol
2018
25 2
453-453

Barbagiovanni, Giulia;Germain, Pierre-Luc;Zech, Michael;Atashpaz, Sina;Lo Riso, Pietro;D'Antonio-Chronowska, Agnieszka;Tenderini, Erika;Caiazzo, Massimiliano;Boesch, Sylvia;Jech, Robert;Haslinger, Bernhard;Broccoli, Vania;Stewart, Adrian Francis;Winkelmann, Juliane;Testa, Giuseppe
KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes.
Cell Rep
2018
25
4
988-1001

Thiel, Christian;Wortmann, Saskia;Riedhammer, Korbinian;Alhaddad, Bader;Mayatepek, Ertan;Prokisch, Holger;Distelmaier, Felix
Severe ichthyosis in MPDU1-CDG.
J Inherit Metab Dis
2018
41
6
1293-1294

Pozojevic, Jelena;Parenti, Ilaria;Graul-Neumann, Luitgard;Ruiz Gil, Sara;Watrin, Erwan;Wendt, Kerstin S;Werner, Ralf;Strom, Tim M;Gillessen-Kaesbach, Gabriele;Kaiser, Frank J
Novel mosaic variants in two patients with Cornelia de Lange syndrome.
Eur J Med Genet
2018
61
11
680-684

Riedhammer, Korbinian M.;Stippel, Michaela;Guenthner, Roman;Braunisch, Matthias C.;Herr, Pierre Maurice;Macheroux, Eva Pauline;Beck, Bodo B.;Satanovskij, Robin;Tasic, Velibor;Hoefele, Julia
FREQUENCY OF PATHOGENIC VARIANTS IN A MUNICH CAKUT COHORT
Pediatr Nephrol
2018
33
10
1821-1821

Yépez, Vicente A;Kremer, Laura S;Iuso, Arcangela;Gusic, Mirjana;Kopajtich, Robert;Koňařiková, Eliška;Nadel, Agnieszka;Wachutka, Leonhard;Prokisch, Holger;Gagneur, Julien
OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer.
PLoS ONE
2018
13
7

Reijnders, Margot R F;Miller, Kerry A;Alvi, Mohsan;Goos, Jacqueline A C;Lees, Melissa M;de Burca, Anna;Henderson, Alex;Kraus, Alison;Mikat, Barbara;de Vries, Bert B A;Isidor, Bertrand;Kerr, Bronwyn;Marcelis, Carlo;Schluth-Bolard, Caroline;Deshpande, Charu;Ruivenkamp, Claudia A L;Wieczorek, Dagmar;Baralle, Diana;Blair, Edward M;Engels, Hartmut;Lüdecke, Hermann-Josef;Eason, Jacqueline;Santen, Gijs W E;Clayton-Smith, Jill;Chandler, Kate;Tatton-Brown, Katrina;Payne, Katelyn;Helbig, Katherine;Radtke, Kelly;Nugent, Kimberly M;Cremer, Kirsten;Strom, Tim M;Bird, Lynne M;Sinnema, Margje;Bitner-Glindzicz, Maria;van Dooren, Marieke F;Alders, Marielle;Koopmans, Marije;Brick, Lauren;Kozenko, Mariya;Harline, Megan L;Klaassens, Merel;Steinraths, Michelle;Cooper, Nicola S;Edery, Patrick;Yap, Patrick;Terhal, Paulien A;van der Spek, Peter J;Lakeman, Phillis;Taylor, Rachel L;Littlejohn, Rebecca O;Pfundt, Rolph;Mercimek-Andrews, Saadet;Stegmann, Alexander P A;Kant, Sarina G;McLean, Scott;Joss, Shelagh;Swagemakers, Sigrid M A;Douzgou, Sofia;Wall, Steven A;Küry, Sébastien;Calpena, Eduardo;Koelling, Nils;McGowan, Simon J;Twigg, Stephen R F;Mathijssen, Irene M J;Nellaker, Christoffer;Brunner, Han G;Wilkie, Andrew O M
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
2018
102
6
1195-1203

Shashi, Vandana;Magiera, Maria M;Klein, Dennis;Zaki, Maha;Schoch, Kelly;Rudnik-Schöneborn, Sabine;Norman, Andrew;Lopes Abath Neto, Osorio;Dusl, Marina;Yuan, Xidi;Bartesaghi, Luca;De Marco, Patrizia;Alfares, Ahmed A;Marom, Ronit;Arold, Stefan T;Guzmán-Vega, Francisco J;Pena, Loren Dm;Smith, Edward C;Steinlin, Maja;Babiker, Mohamed Oe;Mohassel, Payam;Foley, A Reghan;Donkervoort, Sandra;Kaur, Rupleen;Ghosh, Partha S;Stanley, Valentina;Musaev, Damir;Nava, Caroline;Mignot, Cyril;Keren, Boris;Scala, Marcello;Tassano, Elisa;Picco, Paolo;Doneda, Paola;Fiorillo, Chiara;Issa, Mahmoud Y;Alassiri, Ali;Alahmad, Ahmed;Gerard, Amanda;Liu, Pengfei;Yang, Yaping;Ertl-Wagner, Birgit;Kranz, Peter G;Wentzensen, Ingrid M;Stucka, Rolf;Stong, Nicholas;Allen, Andrew S;Goldstein, David B;Schoser, Benedikt;Rösler, Kai M;Alfadhel, Majid;Capra, Valeria;Chrast, Roman;Strom, Tim M;Kamsteeg, Erik-Jan;Bönnemann, Carsten G;Gleeson, Joseph G;Martini, Rudolf;Janke, Carsten;Senderek, Jan
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
EMBO J
2018
37
23

Gross, Oliver;Hoefele, Julia
Genetic causes and therapy in Alport Syndrome
Med. Genet.
2018
30
4
429-437