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Zeitschriftenartikel

Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Müller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; Ridder, Willem de; Winter, Jonathan de; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; Warrenburg, Bart P. van de; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Küpper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M.; Lewis, Richard A.; Millan, Francisca; Duman, Özgür; Dündar, Nihal; Uyanik, Gökhan; Schols, Ludger; Nuernberg, Peter; Nürnberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Gläser, Dieter; Hüttel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Züchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schüle, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark und Senderek, Jan (2021): Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. In: Brain, Bd. 144: S. 1422-1434

Stenton, Sarah L.; Sheremet, Natalia L.; Catarino, Claudia B.; Andreeva, Natalia A.; Assouline, Zahra; Barboni, Piero; Barel, Ortal; Berutti, Riccardo; Bychkov, Igor; Caporali, Leonardo; Capristo, Mariantonietta; Carbonelli, Michele; Cascavilla, Maria L.; Issa, Peter Charbel; Freisinger, Peter; Gerber, Sylvie; Ghezzi, Daniele; Graf, Elisabeth; Heidler, Juliana; Hempel, Maja; Heon, Elise; Itkis, Yulya S.; Javasky, Elisheva; Kaplan, Josseline; Kopajtich, Robert; Kornblum, Cornelia; Kovacs-Nagy, Reka; Krylova, Tatiana D.; Kunz, Wolfram S.; La Morgia, Chiara; Lamperti, Costanza; Ludwig, Christina; Malacarne, Pedro F.; Maresca, Alessandra; Mayr, Johannes A.; Meisterknecht, Jana; Nevinitsyna, Tatiana A.; Palombo, Flavia; Pode-Shakked, Ben; Shmelkova, Maria S.; Strom, Tim M.; Tagliavini, Francesca; Tzadok, Michal; Ven, Amelie T. van der; Vignal-Clermont, Catherine; Wagner, Matias; Zakharova, Ekaterina Y.; Zhorzholadze, Nino V.; Rozet, Jean-Michel; Carelli, Valerio; Tsygankova, Polina G.; Klopstock, Thomas; Wittig, Ilka und Prokisch, Holger (2021): Impaired complex I repair causes recessive Leber?s hereditary optic neuropathy Sarah L. Stenton, ... , Ilka Wittig, Holger Prokisch ... In: Journal of Clinical Investigation, Bd. 131, Nr. 6, e138267

Kour, Sukhleen; Rajan, Deepa S.; Fortuna, Tyler R.; Anderson, Eric N.; Ward, Caroline; Lee, Youngha; Lee, Sangmoon; Shin, Yong Beom; Chae, Jong-Hee; Choi, Murim; Siquier, Karine; Cantagrel, Vincent; Amiel, Jeanne; Stolerman, Elliot S.; Barnett, Sarah S.; Cousin, Margot A.; Castro, Diana; McDonald, Kimberly; Kirmse, Brian; Nemeth, Andrea H.; Rajasundaram, Dhivyaa; Innes, A. Micheil; Lynch, Danielle; Frosk, Patrick; Collins, Abigail; Gibbons, Melissa; Yang, Michele; Desguerre, Isabelle; Boddaert, Nathalie; Gitiaux, Cyril; Rydning, Siri Lynne; Selmer, Kaja K.; Urreizti, Roser; Garcia-Oguiza, Alberto; Osorio, Andres Nascimento; Verdura, Edgard; Pujol, Aurora; McCurry, Hannah R.; Landers, John E.; Agnihotri, Sameer; Andriescu, E. Corina; Moody, Shade B.; Phornphutkul, Chanika; Sacoto, Maria J. Guillen; Begtrup, Amber; Houlden, Henry; Kirschner, Janbernd; Schorling, David; Rudnik-Schoeneborn, Sabine; Strom, Tim M.; Leiz, Steffen; Juliette, Kali; Richardson, Randal; Yang, Ying; Zhang, Yuehua; Wang, Minghui; Wang, Jia; Wang, Xiaodong; Platzer, Konrad; Donkervoort, Sandra; Bonnemann, Carsten G.; Wagner, Matias; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Stanley, Valentina; Maroofian, Reza; Gleeson, Joseph G.; Zaki, Maha S.; Senderek, Jan und Pandey, Udai Bhan (2021): Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. In: Nature Communications, Bd. 12, Nr. 1, 2558

Goodrich, Julia K.; Singer-Berk, Moriel; Son, Rachel; Sveden, Abigail; Wood, Jordan; England, Eleina; Cole, Joanne B.; Weisburd, Ben; Watts, Nick; Caulkins, Lizz; Dornbos, Peter; Koesterer, Ryan; Zappala, Zachary; Zhang, Haichen; Maloney, Kristin A.; Dahl, Andy; Aguilar-Salinas, Carlos A.; Atzmon, Gil; Barajas-Olmos, Francisco; Barzilai, Nir; Blangero, John; Boerwinkle, Eric; Bonnycastle, Lori L.; Bottinger, Erwin; Bowden, Donald W.; Centeno-Cruz, Federico; Chambers, John C.; Chami, Nathalie; Chan, Edmund; Chan, Juliana; Cheng, Ching-Yu; Cho, Yoon Shin; Contreras-Cubas, Cecilia; Cordova, Emilio; Correa, Adolfo; DeFronzo, Ralph A.; Duggirala, Ravindranath; Dupuis, Josee; Eugenia Garay-Sevilla, Ma; Garcia-Ortiz, Humberto; Gieger, Christian; Glaser, Benjamin; Gonzalez-Villalpando, Clicerio; Elena Gonzalez, Ma; Grarup, Niels; Groop, Leif; Gross, Myron; Haiman, Christopher; Han, Sohee; Hanis, Craig L.; Hansen, Torben; Heard-Costa, Nancy L.; Henderson, Brian E.; Hernandez, Juan Manuel Malacara; Hwang, Mi Yeong; Islas-Andrade, Sergio; Jorgensen, Marit E.; Kang, Hyun Min; Kim, Bong-Jo; Kim, Young Jin; Koistinen, Heikki A.; Kooner, Jaspal Singh; Kuusisto, Johanna; Kwak, Soo-Heon; Laakso, Markku; Lange, Leslie; Lee, Jong-Young; Lee, Juyoung; Lehman, Donna M.; Linneberg, Allan; Liu, Jianjun; Loos, Ruth J. F.; Lyssenko, Valeriya; Ma, Ronald C. W.; Martinez-Hernandez, Angelica; Meigs, James B.; Meitinger, Thomas; Mendoza-Caamal, Elvia; Mohlke, Karen L.; Morris, Andrew D.; Morrison, Alanna C.; Ng, Maggie C. Y.; Nilsson, Peter M.; O'Donnell, Christopher J.; Orozco, Lorena; Palmer, Colin N. A.; Park, Kyong Soo; Post, Wendy S.; Pedersen, Oluf; Preuss, Michael; Psaty, Bruce M.; Reiner, Alexander P.; Revilla-Monsalve, Cristina; Rich, Stephen S.; Rotter, Jerome I.; Saleheen, Danish; Schurmann, Claudia; Sim, Xueling; Sladek, Rob; Small, Kerrin S.; So, Wing Yee; Spector, Timothy D.; Strauch, Konstantin; Strom, Tim M.; Tai, E. Shyong; Tam, Claudia H. T.; Teo, Yik Ying; Thameem, Farook; Tomlinson, Brian; Tracy, Russell P.; Tuomi, Tiinamaija; Tuomilehto, Jaakko; Tusie-Luna, Teresa; Dam, Rob M. van; Vasan, Ramachandran S.; Wilson, James G.; Witte, Daniel R.; Wong, Tien-Yin; Burtt, Noel P.; Zaitlen, Noah; McCarthy, Mark I.; Boehnke, Michael; Pollin, Toni I.; Flannick, Jason; Mercader, Josep M.; O'Donnell-Luria, Anne; Baxter, Samantha; Florez, Jose C.; MacArthur, Daniel G. und Udler, Miriam S. (2021): Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. In: Nature Communications, Bd. 12, Nr. 1, 3505

Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas und Haack, Tobias B. (2021): Bi-allelic truncating mutations in VWA1 cause neuromyopathy. In: Brain, Bd. 144: S. 574-583

Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpal, Jan; Havrankova, Petra; Pavelekova, Petra; Hempel, Maja; Kotzaeridou, Urania; Hoffmann, Georg F.; Leiz, Steffen; Makowski, Christine; Roser, Timo; Schroeder, Sebastian A.; Steinfeld, Robert; Strobl-Wildemann, Gertrud; Hoefele, Julia; Borggraefe, Ingo; Distelmaier, Felix; Strom, Tim M.; Winkelmann, Juliane; Meitinger, Thomas; Zech, Michael und Wagner, Matias (2021): De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. In: Clinical Genetics, Bd. 100, Nr. 1: S. 14-28

Tan, Jing; Wagner, Matias; Stenton, Sarah L.; Strom, Tim M.; Wortmann, Saskia B.; Prokisch, Holger; Meitinger, Thomas; Oexle, Konrad und Klopstock, Thomas (2020): Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases. In: Ebiomedicine, Bd. 54, 102730

Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpal, Jan; Dincer, Yasemin; Vill, Katharina; Disteimaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fecikova, Anna; Havrankova, Petra; Roth, Jan; Prihodova, Iva; Adamovicova, Miriam; Ulmanova, Olga; Bechyne, Karel; Danhofer, Pavlina; Vesely, Branislav; Han, Vladimir; Pavelekova, Petra; Gdovinova, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V.; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Svantnerova, Jana; Minar, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H.; Pajusalu, Sander; Ounap, Katrin; Schatz, Ulrich A.; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilhofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S.; Riedhammer, Korbinian M.; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E.; Zamora, Francisca Milian; Henderson, Lindsay B.; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M.; Ozelius, Laurie J.; Vetro, Annafisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B.; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Ruzicka, Evzen; Cohn, Ronald D.; Dyment, David; Chung, Wendy K.; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafai; Daumke, Ofiver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad und Winkehnann, Juliane (2020): Monogenic variants in dystonia: an exome-wide sequencing study. In: Lancet Neurology, Bd. 19, Nr. 11: S. 908-918

Husain, Ralf A.; Grimmel, Mona; Wagner, Matias; Hennings, J. Christopher; Marx, Christian; Feichtinger, Rene G.; Saadi, Abdelkrim; Rostasy, Kevin; Radelfahr, Florentine; Bevot, Andrea; Doebler-Neumann, Marion; Hartmann, Hans; Colleaux, Laurence; Cordts, Isabell; Kobeleva, Xenia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Besse, Arnaud; Ng, Andy Cheuk-Him; Chiang, Diana; Bolduc, Francois; Tafakhori, Abbas; Mane, Shrikant; Firouzabadi, Saghar Ghasemi; Huebner, Antje K.; Buchert, Rebecca; Beck-Woedl, Stefanie; Müller, Amelie J.; Laugwitz, Lucia; Naegele, Thomas; Wang, Zhao-Qi; Strom, Tim M.; Sturm, Marc; Meitinger, Thomas; Klockgether, Thomas; Riess, Olaf; Klopstock, Thomas; Brandl, Ulrich; Huebner, Christian A.; Deschauer, Marcus; Mayr, Johannes A.; Bonnen, Penelope E.; Kraegeloh-Mann, Ingeborg; Wortmann, Saskia B. und Haack, Tobias B. (2020): Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. In: American Journal of Human Genetics, Bd. 107, Nr. 2: S. 364-373

Zech, Michael; Brunet, Theresa; Skorvanek, Matej; Blaschek, Astrid; Vill, Katharina; Hanker, Britta; Huning, Irina; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Ruzicka, Evzen; Kamsteeg, Erik-Jan; Smagt, Jasper J. van der; Wagner, Matias; Jech, Robert und Winkelmann, Juliane (2020): Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia. In: Parkinsonism & Related Disorders, Bd. 77: S. 70-75

Braunisch, Matthias Christoph; Riedhammer, Korbinian Maria; Herr, Pierre-Maurice; Draut, Sarah; Guenthner, Roman; Wagner, Matias; Weidenbusch, Marc; Lungu, Adrian; Alhaddad, Bader; Renders, Lutz; Strom, Tim M.; Heemann, Uwe; Meitinger, Thomas; Schmaderer, Christoph und Hoefele, Julia (2020): Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS. In: European Journal of Human Genetics, Bd. 29, Nr. 2: S. 262-270

Bryant, Laura; Li, Dong; Cox, Samuel G.; Marchione, Dylan; Joiner, Evan F.; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E.; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J.; Wadley, Alexandrea; Mancini, Grazia M. S.; Powell-Hamilton, Nina; Kamp, Jiddeke van de; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P.; Powis, Zoe; Cho, Megan T.; Willing, Marcia C.; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B.; Retterer, Kyle; Schuette, Jane L.; Innis, Jeffrey W.; Pizzino, Amy; Luttgen, Sabine; Denecke, Jonas; Strom, Tim M.; Monaghan, Kristin G.; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A.; Lyons, Michael J.; Hoefele, Julia; Gunthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L.; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H.; Ounap, Katrin; Ilves, Pilvi; Innes, A. Micheil; Kernohan, Kristin D.; Costain, Gregory; Meyn, M. Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Martin, Martin G.; Martinez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M.; Gotway, Garrett; Stuurman, K. E.; Thompson, Michelle L.; McWalter, Kirsty; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Tveten, Kristian; Vollo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Larsen, Martin J.; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C.; Dean, Joy; Vergano, Samantha A. Schrier; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Allen, Margot van; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J.; Cathey, Sara S.; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Padilla, Natalia; Crump, J. Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H. und Bhoj, Elizabeth J. (2020): Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. In: Science Advances, Bd. 6, Nr. 49, eabc9207

Senderek, Jan; Lassuthova, Petra; Kabzinska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J.; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Draeger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N.; Horvath, Rita; Hoyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N.; Kurth, Ingo; Laing, Nigel G.; Lamont, Phillipa J.; Loescher, Wolfgang N.; Ludolph, Albert; Marques, Wilson; Nicholson, Garth; Ong, Royston; Petri, Susanne; Ravenscroft, Gianina; Rebelo, Adriana; Ricci, Giulia; Rudnik-Schoeneborn, Sabine; Schirmacher, Anja; Schlotter-Weigel, Beate; Schoels, Ludger; Schuele, Rebecca; Synofzik, Matthis; Francou, Bruno; Strom, Tim M.; Wagner, Johannes; Walk, David; Wanschitz, Julia; Weinmann, Daniela; Weishaupt, Jochen; Wiessner, Manuela; Windhager, Reinhard; Young, Peter; Zuechner, Stephan; Toegel, Stefan; Seeman, Pavel; Kochanski, Andrzej und Auer-Grumbach, Michaela (2020): The genetic landscape of axonal neuropathies in the middle-aged and elderly Focus on MME. In: Neurology, Bd. 95, Nr. 24, E3163-E3179

Riedhammer, Korbinian M.; Braunisch, Matthias C.; Guenthner, Roman; Wagner, Matias; Hemmer, Clara; Strom, Tim M.; Schmaderer, Christoph; Renders, Lutz; Tasic, Velibor; Gucev, Zoran; Nushi-Stavileci, Valbona; Putnik, Jovana; Stajic, Natasa; Weidenbusch, Marc; Uetz, Barbara; Montoya, Carmen; Strotmann, Peter; Ponsel, Sabine; Lange-Sperandio, Baerbel und Hoefele, Julia (2020): Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies. In: American Journal of Kidney Diseases, Bd. 76, Nr. 4: S. 460-470

Flannick, Jason; Mercader, Josep M.; Fuchsberger, Christian; Udler, Miriam S.; Mahajan, Anubha; Wessel, Jennifer; Teslovich, Tanya M.; Caulkins, Lizz; Koesterer, Ryan; Barajas-Olmos, Francisco; Blackwell, Thomas W.; Boerwinkle, Eric; Brody, Jennifer A.; Centeno-Cruz, Federico; Chen, Ling; Chen, Siying; Contreras-Cubas, Cecilia; Cordova, Emilio; Correa, Adolfo; Cortes, Maria; DeFronzo, Ralph A.; Dolan, Lawrence; Drews, Kimberly L.; Elliott, Amanda; Floyd, James S.; Gabriel, Stacey; Garay-Sevilla, Maria Eugenia; Garcia-Ortiz, Humberto; Gross, Myron; Han, Sohee; Heard-Costa, Nancy L.; Jackson, Anne U.; Jörgensen, Marit E.; Kang, Hyun Min; Kelsey, Megan; Kim, Bong-Jo; Koistinen, Heikki A.; Kuusisto, Johanna; Leader, Joseph B.; Linneberg, Allan; Liu, Ching-Ti; Liu, Jianjun; Lyssenko, Valeriya; Manning, Alisa K.; Marcketta, Anthony; Malacara-Hernandez, Juan Manuel; Martinez-Hernandez, Angelica; Matsuo, Karen; Mayer-Davis, Elizabeth; Mendoza-Caamal, Elvia; Mohlke, Karen L.; Morrison, Alanna C.; Ndungu, Anne; Ng, Maggie C. Y.; O'Dushlaine, Colm; Payne, Anthony J.; Pihoker, Catherine; Post, Wendy S.; Preuss, Michael; Psaty, Bruce M.; Vasan, Ramachandran S.; Rayner, N. William; Reiner, Alexander P.; Revilla-Monsalve, Cristina; Robertson, Neil R.; Santoro, Nicola; Schurmann, Claudia; So, Wing Yee; Soberon, Xavier; Stringham, Heather M.; Strom, Tim M.; Tam, Claudia H. T.; Thameem, Farook; Tomlinson, Brian; Torres, Jason M.; Tracy, Russell P.; van Dam, Rob M.; Vujkovic, Marijana; Wang, Shuai; Welch, Ryan P.; Witte, Daniel R.; Wong, Tien-Yin; Atzmon, Gil; Barzilai, Nir; Blangero, John; Bonnycastle, Lori L.; Bowden, Donald W.; Chambers, John C.; Chan, Edmund; Cheng, Ching-Yu; Cho, Yoon Shin; Collins, Francis S.; De Vries, Paul S.; Duggirala, Ravindranath; Glaser, Benjamin; Gonzalez, Clicerio; Elena Gonzalez, Ma; Groop, Leif; Kooner, Jaspal Singh; Kwak, Soo Heon; Laakso, Markku; Lehman, Donna M.; Nilsson, Peter; Spector, Timothy D.; Tai, E. Shyong; Tuomi, Tiinamaija; Tuomilehto, Jaakko; Wilson, James G.; Aguilar-Salinas, Carlos A.; Bottinger, Erwin; Burke, Brian; Carey, David J.; Chan, Juliana C. N.; Dupuis, Josee; Frossard, Philippe; Heckbert, Susan R.; Hwang, Mi Yeong; Kim, Young Jin; Kirchner, H. Lester; Lee, Jong-Young; Lee, Juyoung; Loos, Ruth J. F.; Ma, Ronald C. W.; Morris, Andrew D.; O'Donnell, Christopher J.; Palmer, Colin N. A.; Pankow, James; Park, Kyong Soo; Rasheed, Asif; Saleheen, Danish; Sim, Xueling; Small, Kerrin S.; Teo, Yik Ying; Haiman, Christopher; Hanis, Craig L.; Henderson, Brian E.; Orozco, Lorena; Tusie-Luna, Teresa; Dewey, Frederick E.; Baras, Aris; Gieger, Christian; Meitinger, Thomas; Strauch, Konstantin; Lange, Leslie; Grarup, Niels; Hansen, Torben; Pedersen, Oluf; Zeitler, Philip; Dabelea, Dana; Abecasis, Goncalo; Bell, Graeme I.; Cox, Nancy J.; Seielstad, Mark; Sladek, Rob; Meigs, James B.; Rich, Steve S.; Rotter, Jerome I.; Altshuler, David; Burtt, Noel P.; Scott, Laura J.; Morris, Andrew P.; Florez, Jose C.; McCarthy, Mark I. und Boehnke, Michael (2019): Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. In: Nature, Bd. 570, Nr. 7759

Baumann, Matthias; Schreiber, Herbert; Schlotter-Weigel, Beate; Loescher, Wolfgang N.; Stucka, Rolf; Karall, Daniela; Strom, Tim M.; Bauer, Peter; Krabichler, Birgit; Fauth, Christine; Glaeser, Dieter und Senderek, Jan (2019): MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. In: Clinical Genetics, Bd. 95, Nr. 1: S. 182-186

Dusl, Marina; Moreno, Teresa; Muneii, Francina; Macaya, Alfons; Gratacos, Margarida; Abicht, Angela; Strom, Tim M.; Lochmuller, Hanns und Senderek, Jan (2019): Congenital myasthenic syndrome caused by novel COL13A1 mutations. In: Journal of Neurology, Bd. 266, Nr. 5: S. 1107-1112

Sbiera, Silviu; Perez-Rivas, Luis Gustavo; Taranets, Lyudmyla; Weigand, Isabel; Flitsch, Jörg; Graf, Elisabeth; Monoranu, Camelia-Maria; Saeger, Wolfgang; Hagel, Christian; Honegger, Jürgen; Assie, Guillaume; Hermus, Ad R.; Stalla, Guenter K.; Herterich, Sabine; Ronchi, Cristina L.; Deutschbein, Timo; Reincke, Martin; Strom, Tim M.; Popov, Nikita; Theodoropoulou, Marily und Fassnacht, Martin (2019): Driver mutations in USP8 wild-type Cushing's disease. In: Neuro-Oncology, Bd. 21, Nr. 10: S. 1273-1283

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