日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

作者更正:将新一代表型分析技术整合到国家层面的超罕见病患者诊疗框架中,可改进基因诊断并产生新的分子发现。

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M C; Schaaf, Christian P; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M; Kotzaeridou, Urania; Hoffmann, Georg F; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M; Haack, Tobias; Ehmke, Nadja; Wagner, Matias

Plasma versus serum: which is better for proteomic blood biomarker analysis? Evaluation of the novel NULISA platform

血浆与血清:哪种更适合蛋白质组学血液生物标志物分析?新型NULISA平台的评估

Peymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico; Carrozzo, Rosalba; Diodato, Daria; Distelmaier, Felix; Fang, Fang; Ghezzi, Daniele; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas; Stenton, Sarah L; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rötig, Agnés; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger; Song, Yeunjoo E; Wang, Ping; Laux, Renee A; Fuzzell, Sarada L; Hochstetler, Sherri D; Miskimen, Kristy L; Lynn, Audrey; Wang, Weihuan; Liu, Yining; Moore, Noel C; Gulyayev, Alex V; Dorfsman, Daniel A; Caywood, Laura J; Clouse, Jason E; Herington, Sharlene D; Prough, Michael B; Slifer, Susan H; Adams, Larry D; Whitehead, Patrice G; Vance, Jeffery M; Cuccaro, Michael L; Ogrocki, Paula K; Lerner, Alan J; Pericak‐Vance, Margaret; Scott, William K; Bush, William S; Haines, Jonathan L; Griswold, Anthony J; Akinyemi, Rufus O; Rajabli, Farid; Ayele, Biniyam A; Coker, Motunrayo; Scott, Kyle M; Akinwande, Kazeem; Adams, Larry D; Diala, Samuel; Whitehead, Patrice G; McCauley, Jacob L; Ogunronbi, Mayowa; Hamilton‐Nelson, Kara L; Damasceno, Albertino; Zaman, Andrew F; Zewde, Yared Z; NJAMNSHI, Alfred Kongnyu; Caban‐Holt, Allison M; Ndetei, David; Sarfo, Fred Stephen; Akinyemi, Joshua O; Blanton, Susan H; Akpalu, Albert; Cuccaro, Michael L; Wahab, Kolawole; Gugssa, Seid Ali; McInerney, Katalina F; Obiako, Reginald; Baiyewu, Olusegun; Walker, Richard; Mena, Pedro R; Okubadejo, Njideka U; Martinez, Izri M; Kunkle, Brian W; Paddick, Stella‐Maria; Kalaria, Raj; Ogunniyi, Adesola; Vance, Jeffery M; Reitz, Christiane; Seshadri, Sudha; Guerchet, Maëlenn; Tosto, Giuseppe; Williams, Scott M; Bush, William S; Haines, Jonathan L; Byrd, Goldie S; Pericak‐Vance, Margaret; Farinas, Marissa F; Chen, Yijun; Zeng, Xuemei; Nafash, Michel N; Gogola, Alexandra; Kofler, Julia K; Tudorascu, Dana L; Shaaban, C Elizabeth; Lingler, Jennifer H; Pascoal, Tharick A; Klunk, William E; Villemagne, Victor L; Berman, Sarah B; Sweet, Robert; Kamboh, M Ilyas; Ikonomovic, Milos D; Snitz, Beth E; Cohen, Ann D; Lopez, Oscar L; Karikari, Thomas K

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

基因组学和蛋白质组学相结合,揭示了肌张力障碍中难以捉摸的变异和巨大的病因异质性

Zech Michael, Dzinovic Ivana, Skorvanek Matej, Harrer Philip, Necpal Jan, Kopajtich Robert, Kittke Volker, Tilch Erik, Zhao Chen, Tsoma Eugenia, Sorrentino Ugo, Indelicato Elisabetta, Stehr Antonia, Saparov Alice, Abela Lucia, Adamovicova Miriam, Afenjar Alexandra, Assmann Birgit, Baloghova Janette, Baumann Matthias, Berutti Riccardo, Brezna Zuzana, Brugger Melanie, Brunet Theresa, Cogne Benjamin, Colangelo Isabel, Conboy Erin, Distelmaier Felix, Eckenweiler Matthias, Garavaglia Barbara, Geerlof Arie, Graf Elisabeth, Hackenberg Annette, Harvanova Denisa, Haslinger Bernhard, Havrankova Petra, Hoffmann Georg F, Janzarik Wibke G, Keren Boris, Kolnikova Miriam, Kolokotronis Konstantinos, Kosutzka Zuzana, Koy Anne, Krenn Martin, Krygier Magdalena, Kusikova Katarina, Maier Oliver, Meitinger Thomas, Mertes Christian, Milenkovic Ivan, Monfrini Edoardo, Santos Dias Mourao Andre, Musacchio Thomas, Nizon Mathilde, Ostrozovicova Miriam, Pavlov Martin, Prihodova Iva, Rektorova Irena, Romito Luigi M, Rybanska Barbora, Sadr-Nabavi Ariane, Schwenger Susanne, Shoeibi Ali, Sitzberger Alexandra, Smirnov Dmitrii, Svantnerova Jana, Tautanova Raushana, Toelle Sandra P, Ulmanova Olga, Vetrini Francesco, Vill Katharina, Wagner Matias, Weise David, Zorzi Giovanna, Di Fonzo Alessio, Oexle Konrad, Berweck Steffen, Mall Volker, Boesch Sylvia, Schormair Barbara, Prokisch Holger, Jech Robert, Winkelmann Juliane

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

2型糖尿病病理生理异质性的遗传驱动因素

Suzuki, Ken; Hatzikotoulas, Konstantinos; Southam, Lorraine; Taylor, Henry J; Yin, Xianyong; Lorenz, Kim M; Mandla, Ravi; Huerta-Chagoya, Alicia; Melloni, Giorgio E M; Kanoni, Stavroula; Rayner, Nigel W; Bocher, Ozvan; Arruda, Ana Luiza; Sonehara, Kyuto; Namba, Shinichi; Lee, Simon S K; Preuss, Michael H; Petty, Lauren E; Schroeder, Philip; Vanderwerff, Brett; Kals, Mart; Bragg, Fiona; Lin, Kuang; Guo, Xiuqing; Zhang, Weihua; Yao, Jie; Kim, Young Jin; Graff, Mariaelisa; Takeuchi, Fumihiko; Nano, Jana; Lamri, Amel; Nakatochi, Masahiro; Moon, Sanghoon; Scott, Robert A; Cook, James P; Lee, Jung-Jin; Pan, Ian; Taliun, Daniel; Parra, Esteban J; Chai, Jin-Fang; Bielak, Lawrence F; Tabara, Yasuharu; Hai, Yang; Thorleifsson, Gudmar; Grarup, Niels; Sofer, Tamar; Wuttke, Matthias; Sarnowski, Chloé; Gieger, Christian; Nousome, Darryl; Trompet, Stella; Kwak, Soo-Heon; Long, Jirong; Sun, Meng; Tong, Lin; Chen, Wei-Min; Nongmaithem, Suraj S; Noordam, Raymond; Lim, Victor J Y; Tam, Claudia H T; Joo, Yoonjung Yoonie; Chen, Chien-Hsiun; Raffield, Laura M; Prins, Bram Peter; Nicolas, Aude; Yanek, Lisa R; Chen, Guanjie; Brody, Jennifer A; Kabagambe, Edmond; An, Ping; Xiang, Anny H; Choi, Hyeok Sun; Cade, Brian E; Tan, Jingyi; Broadaway, K Alaine; Williamson, Alice; Kamali, Zoha; Cui, Jinrui; Thangam, Manonanthini; Adair, Linda S; Adeyemo, Adebowale; Aguilar-Salinas, Carlos A; Ahluwalia, Tarunveer S; Anand, Sonia S; Bertoni, Alain; Bork-Jensen, Jette; Brandslund, Ivan; Buchanan, Thomas A; Burant, Charles F; Butterworth, Adam S; Canouil, Mickaël; Chan, Juliana C N; Chang, Li-Ching; Chee, Miao-Li; Chen, Ji; Chen, Shyh-Huei; Chen, Yuan-Tsong; Chen, Zhengming; Chuang, Lee-Ming; Cushman, Mary; Danesh, John; Das, Swapan K; de Silva, H Janaka; Dedoussis, George; Dimitrov, Latchezar; Doumatey, Ayo P; Du, Shufa; Duan, Qing; Eckardt, Kai-Uwe; Emery, Leslie S; Evans, Daniel S; Evans, Michele K; Fischer, Krista; Floyd, James S; Ford, Ian; Franco, Oscar H; Frayling, Timothy M; Freedman, Barry I; Genter, Pauline; Gerstein, Hertzel C; Giedraitis, Vilmantas; González-Villalpando, Clicerio; González-Villalpando, Maria Elena; Gordon-Larsen, Penny; Gross, Myron; Guare, Lindsay A; Hackinger, Sophie; Hakaste, Liisa; Han, Sohee; Hattersley, Andrew T; Herder, Christian; Horikoshi, Momoko; Howard, Annie-Green; Hsueh, Willa; Huang, Mengna; Huang, Wei; Hung, Yi-Jen; Hwang, Mi Yeong; Hwu, Chii-Min; Ichihara, Sahoko; Ikram, Mohammad Arfan; Ingelsson, Martin; Islam, Md Tariqul; Isono, Masato; Jang, Hye-Mi; Jasmine, Farzana; Jiang, Guozhi; Jonas, Jost B; Jørgensen, Torben; Kamanu, Frederick K; Kandeel, Fouad R; Kasturiratne, Anuradhani; Katsuya, Tomohiro; Kaur, Varinderpal; Kawaguchi, Takahisa; Keaton, Jacob M; Kho, Abel N; Khor, Chiea-Chuen; Kibriya, Muhammad G; Kim, Duk-Hwan; Kronenberg, Florian; Kuusisto, Johanna; Läll, Kristi; Lange, Leslie A; Lee, Kyung Min; Lee, Myung-Shik; Lee, Nanette R; Leong, Aaron; Li, Liming; Li, Yun; Li-Gao, Ruifang; Ligthart, Symen; Lindgren, Cecilia M; Linneberg, Allan; Liu, Ching-Ti; Liu, Jianjun; Locke, Adam E; Louie, Tin; Luan, Jian'an; Luk, Andrea O; Luo, Xi; Lv, Jun; Lynch, Julie A; Lyssenko, Valeriya; Maeda, Shiro; Mamakou, Vasiliki; Mansuri, Sohail Rafik; Matsuda, Koichi; Meitinger, Thomas; Melander, Olle; Metspalu, Andres; Mo, Huan; Morris, Andrew D; Moura, Filipe A; Nadler, Jerry L; Nalls, Michael A; Nayak, Uma; Ntalla, Ioanna; Okada, Yukinori; Orozco, Lorena; Patel, Sanjay R; Patil, Snehal; Pei, Pei; Pereira, Mark A; Peters, Annette; Pirie, Fraser J; Polikowsky, Hannah G; Porneala, Bianca; Prasad, Gauri; Rasmussen-Torvik, Laura J; Reiner, Alexander P; Roden, Michael; Rohde, Rebecca; Roll, Katheryn; Sabanayagam, Charumathi; Sandow, Kevin; Sankareswaran, Alagu; Sattar, Naveed; Schönherr, Sebastian; Shahriar, Mohammad; Shen, Botong; Shi, Jinxiu; Shin, Dong Mun; Shojima, Nobuhiro; Smith, Jennifer A; So, Wing Yee; Stančáková, Alena; Steinthorsdottir, Valgerdur; Stilp, Adrienne M; Strauch, Konstantin; Taylor, Kent D; Thorand, Barbara; Thorsteinsdottir, Unnur; Tomlinson, Brian; Tran, Tam C; Tsai, Fuu-Jen; Tuomilehto, Jaakko; Tusie-Luna, Teresa; Udler, Miriam S; Valladares-Salgado, Adan; van Dam, Rob M; van Klinken, Jan B; Varma, Rohit; Wacher-Rodarte, Niels; Wheeler, Eleanor; Wickremasinghe, Ananda R; van Dijk, Ko Willems; Witte, Daniel R; Yajnik, Chittaranjan S; Yamamoto, Ken; Yamamoto, Kenichi; Yoon, Kyungheon; Yu, Canqing; Yuan, Jian-Min; Yusuf, Salim; Zawistowski, Matthew; Zhang, Liang; Zheng, Wei; Raffel, Leslie J; Igase, Michiya; Ipp, Eli; Redline, Susan; Cho, Yoon Shin; Lind, Lars; Province, Michael A; Fornage, Myriam; Hanis, Craig L; Ingelsson, Erik; Zonderman, Alan B; Psaty, Bruce M; Wang, Ya-Xing; Rotimi, Charles N; Becker, Diane M; Matsuda, Fumihiko; Liu, Yongmei; Yokota, Mitsuhiro; Kardia, Sharon L R; Peyser, Patricia A; Pankow, James S; Engert, James C; Bonnefond, Amélie; Froguel, Philippe; Wilson, James G; Sheu, Wayne H H; Wu, Jer-Yuarn; Hayes, M Geoffrey; Ma, Ronald C W; Wong, Tien-Yin; Mook-Kanamori, Dennis O; Tuomi, Tiinamaija; Chandak, Giriraj R; Collins, Francis S; Bharadwaj, Dwaipayan; Paré, Guillaume; Sale, Michèle M; Ahsan, Habibul; Motala, Ayesha A; Shu, Xiao-Ou; Park, Kyong-Soo; Jukema, J Wouter; Cruz, Miguel; Chen, Yii-Der Ida; Rich, Stephen S; McKean-Cowdin, Roberta; Grallert, Harald; Cheng, Ching-Yu; Ghanbari, Mohsen; Tai, E-Shyong; Dupuis, Josee; Kato, Norihiro; Laakso, Markku; Köttgen, Anna; Koh, Woon-Puay; Bowden, Donald W; Palmer, Colin N A; Kooner, Jaspal S; Kooperberg, Charles; Liu, Simin; North, Kari E; Saleheen, Danish; Hansen, Torben; Pedersen, Oluf; Wareham, Nicholas J; Lee, Juyoung; Kim, Bong-Jo; Millwood, Iona Y; Walters, Robin G; Stefansson, Kari; Ahlqvist, Emma; Goodarzi, Mark O; Mohlke, Karen L; Langenberg, Claudia; Haiman, Christopher A; Loos, Ruth J F; Florez, Jose C; Rader, Daniel J; Ritchie, Marylyn D; Zöllner, Sebastian; Mägi, Reedik; Marston, Nicholas A; Ruff, Christian T; van Heel, David A; Finer, Sarah; Denny, Joshua C; Yamauchi, Toshimasa; Kadowaki, Takashi; Chambers, John C; Ng, Maggie C Y; Sim, Xueling; Below, Jennifer E; Tsao, Philip S; Chang, Kyong-Mi; McCarthy, Mark I; Meigs, James B; Mahajan, Anubha; Spracklen, Cassandra N; Mercader, Josep M; Boehnke, Michael; Rotter, Jerome I; Vujkovic, Marijana; Voight, Benjamin F; Morris, Andrew P; Zeggini, Eleftheria

Understanding the genetic complexity of puberty timing across the allele frequency spectrum

了解青春期发育时间在等位基因频率谱中的遗传复杂性

Kentistou, Katherine A; Kaisinger, Lena R; Stankovic, Stasa; Vaudel, Marc; Mendes de Oliveira, Edson; Messina, Andrea; Walters, Robin G; Liu, Xiaoxi; Busch, Alexander S; Helgason, Hannes; Thompson, Deborah J; Santoni, Federico; Petricek, Konstantin M; Zouaghi, Yassine; Huang-Doran, Isabel; Gudbjartsson, Daniel F; Bratland, Eirik; Lin, Kuang; Gardner, Eugene J; Zhao, Yajie; Jia, Raina Y; Terao, Chikashi; Riggan, Marjorie J; Bolla, Manjeet K; Yazdanpanah, Mojgan; Yazdanpanah, Nahid; Bradfield, Jonathan P; Broer, Linda; Campbell, Archie; Chasman, Daniel I; Cousminer, Diana L; Franceschini, Nora; Franke, Lude H; Girotto, Giorgia; He, Chunyan; Järvelin, Marjo-Riitta; Joshi, Peter K; Kamatani, Yoichiro; Karlsson, Robert; Luan, Jian'an; Lunetta, Kathryn L; Mägi, Reedik; Mangino, Massimo; Medland, Sarah E; Meisinger, Christa; Noordam, Raymond; Nutile, Teresa; Concas, Maria Pina; Polašek, Ozren; Porcu, Eleonora; Ring, Susan M; Sala, Cinzia; Smith, Albert V; Tanaka, Toshiko; van der Most, Peter J; Vitart, Veronique; Wang, Carol A; Willemsen, Gonneke; Zygmunt, Marek; Ahearn, Thomas U; Andrulis, Irene L; Anton-Culver, Hoda; Antoniou, Antonis C; Auer, Paul L; Barnes, Catriona L K; Beckmann, Matthias W; Berrington de Gonzalez, Amy; Bogdanova, Natalia V; Bojesen, Stig E; Brenner, Hermann; Buring, Julie E; Canzian, Federico; Chang-Claude, Jenny; Couch, Fergus J; Cox, Angela; Crisponi, Laura; Czene, Kamila; Daly, Mary B; Demerath, Ellen W; Dennis, Joe; Devilee, Peter; De Vivo, Immaculata; Dörk, Thilo; Dunning, Alison M; Dwek, Miriam; Eriksson, Johan G; Fasching, Peter A; Fernandez-Rhodes, Lindsay; Ferreli, Liana; Fletcher, Olivia; Gago-Dominguez, Manuela; García-Closas, Montserrat; García-Sáenz, José A; González-Neira, Anna; Grallert, Harald; Guénel, Pascal; Haiman, Christopher A; Hall, Per; Hamann, Ute; Hakonarson, Hakon; Hart, Roger J; Hickey, Martha; Hooning, Maartje J; Hoppe, Reiner; Hopper, John L; Hottenga, Jouke-Jan; Hu, Frank B; Huebner, Hanna; Hunter, David J; Jernström, Helena; John, Esther M; Karasik, David; Khusnutdinova, Elza K; Kristensen, Vessela N; Lacey, James V; Lambrechts, Diether; Launer, Lenore J; Lind, Penelope A; Lindblom, Annika; Magnusson, Patrik K E; Mannermaa, Arto; McCarthy, Mark I; Meitinger, Thomas; Menni, Cristina; Michailidou, Kyriaki; Millwood, Iona Y; Milne, Roger L; Montgomery, Grant W; Nevanlinna, Heli; Nolte, Ilja M; Nyholt, Dale R; Obi, Nadia; O'Brien, Katie M; Offit, Kenneth; Oldehinkel, Albertine J; Ostrowski, Sisse R; Palotie, Aarno; Pedersen, Ole B; Peters, Annette; Pianigiani, Giulia; Plaseska-Karanfilska, Dijana; Pouta, Anneli; Pozarickij, Alfred; Radice, Paolo; Rennert, Gad; Rosendaal, Frits R; Ruggiero, Daniela; Saloustros, Emmanouil; Sandler, Dale P; Schipf, Sabine; Schmidt, Carsten O; Schmidt, Marjanka K; Small, Kerrin; Spedicati, Beatrice; Stampfer, Meir; Stone, Jennifer; Tamimi, Rulla M; Teras, Lauren R; Tikkanen, Emmi; Turman, Constance; Vachon, Celine M; Wang, Qin; Winqvist, Robert; Wolk, Alicja; Zemel, Babette S; Zheng, Wei; van Dijk, Ko W; Alizadeh, Behrooz Z; Bandinelli, Stefania; Boerwinkle, Eric; Boomsma, Dorret I; Ciullo, Marina; Chenevix-Trench, Georgia; Cucca, Francesco; Esko, Tõnu; Gieger, Christian; Grant, Struan F A; Gudnason, Vilmundur; Hayward, Caroline; Kolčić, Ivana; Kraft, Peter; Lawlor, Deborah A; Martin, Nicholas G; Nøhr, Ellen A; Pedersen, Nancy L; Pennell, Craig E; Ridker, Paul M; Robino, Antonietta; Snieder, Harold; Sovio, Ulla; Spector, Tim D; Stöckl, Doris; Sudlow, Cathie; Timpson, Nic J; Toniolo, Daniela; Uitterlinden, André; Ulivi, Sheila; Völzke, Henry; Wareham, Nicholas J; Widen, Elisabeth; Wilson, James F; Pharoah, Paul D P; Li, Liming; Easton, Douglas F; Njølstad, Pål R; Sulem, Patrick; Murabito, Joanne M; Murray, Anna; Manousaki, Despoina; Juul, Anders; Erikstrup, Christian; Stefansson, Kari; Horikoshi, Momoko; Chen, Zhengming; Farooqi, I Sadaf; Pitteloud, Nelly; Johansson, Stefan; Day, Felix R; Perry, John R B; Ong, Ken K

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

将新一代表型分析技术整合到国家级框架中,用于治疗罕见病患者,可改进基因诊断并产生新的分子发现。

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M C; Schaaf, Christian P; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M; Kotzaeridou, Urania; Hoffmann, Georg F; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M; Haack, Tobias; Ehmke, Nadja; Wagner, Matias

Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum

出版商更正:了解青春期发育时间在等位基因频率谱中的遗传复杂性

Kentistou, Katherine A; Kaisinger, Lena R; Stankovic, Stasa; Vaudel, Marc; Mendes de Oliveira, Edson; Messina, Andrea; Walters, Robin G; Liu, Xiaoxi; Busch, Alexander S; Helgason, Hannes; Thompson, Deborah J; Santoni, Federico; Petricek, Konstantin M; Zouaghi, Yassine; Huang-Doran, Isabel; Gudbjartsson, Daniel F; Bratland, Eirik; Lin, Kuang; Gardner, Eugene J; Zhao, Yajie; Jia, Raina Y; Terao, Chikashi; Riggan, Marjorie J; Bolla, Manjeet K; Yazdanpanah, Mojgan; Yazdanpanah, Nahid; Bradfield, Jonathan P; Broer, Linda; Campbell, Archie; Chasman, Daniel I; Cousminer, Diana L; Franceschini, Nora; Franke, Lude H; Girotto, Giorgia; He, Chunyan; Järvelin, Marjo-Riitta; Joshi, Peter K; Kamatani, Yoichiro; Karlsson, Robert; Luan, Jian'an; Lunetta, Kathryn L; Mägi, Reedik; Mangino, Massimo; Medland, Sarah E; Meisinger, Christa; Noordam, Raymond; Nutile, Teresa; Concas, Maria Pina; Polašek, Ozren; Porcu, Eleonora; Ring, Susan M; Sala, Cinzia; Smith, Albert V; Tanaka, Toshiko; van der Most, Peter J; Vitart, Veronique; Wang, Carol A; Willemsen, Gonneke; Zygmunt, Marek; Ahearn, Thomas U; Andrulis, Irene L; Anton-Culver, Hoda; Antoniou, Antonis C; Auer, Paul L; Barnes, Catriona L K; Beckmann, Matthias W; Berrington de Gonzalez, Amy; Bogdanova, Natalia V; Bojesen, Stig E; Brenner, Hermann; Buring, Julie E; Canzian, Federico; Chang-Claude, Jenny; Couch, Fergus J; Cox, Angela; Crisponi, Laura; Czene, Kamila; Daly, Mary B; Demerath, Ellen W; Dennis, Joe; Devilee, Peter; De Vivo, Immaculata; Dörk, Thilo; Dunning, Alison M; Dwek, Miriam; Eriksson, Johan G; Fasching, Peter A; Fernandez-Rhodes, Lindsay; Ferreli, Liana; Fletcher, Olivia; Gago-Dominguez, Manuela; García-Closas, Montserrat; García-Sáenz, José A; González-Neira, Anna; Grallert, Harald; Guénel, Pascal; Haiman, Christopher A; Hall, Per; Hamann, Ute; Hakonarson, Hakon; Hart, Roger J; Hickey, Martha; Hooning, Maartje J; Hoppe, Reiner; Hopper, John L; Hottenga, Jouke-Jan; Hu, Frank B; Huebner, Hanna; Hunter, David J; Jernström, Helena; John, Esther M; Karasik, David; Khusnutdinova, Elza K; Kristensen, Vessela N; Lacey, James V; Lambrechts, Diether; Launer, Lenore J; Lind, Penelope A; Lindblom, Annika; Magnusson, Patrik K E; Mannermaa, Arto; McCarthy, Mark I; Meitinger, Thomas; Menni, Cristina; Michailidou, Kyriaki; Millwood, Iona Y; Milne, Roger L; Montgomery, Grant W; Nevanlinna, Heli; Nolte, Ilja M; Nyholt, Dale R; Obi, Nadia; O'Brien, Katie M; Offit, Kenneth; Oldehinkel, Albertine J; Ostrowski, Sisse R; Palotie, Aarno; Pedersen, Ole B; Peters, Annette; Pianigiani, Giulia; Plaseska-Karanfilska, Dijana; Pouta, Anneli; Pozarickij, Alfred; Radice, Paolo; Rennert, Gad; Rosendaal, Frits R; Ruggiero, Daniela; Saloustros, Emmanouil; Sandler, Dale P; Schipf, Sabine; Schmidt, Carsten O; Schmidt, Marjanka K; Small, Kerrin; Spedicati, Beatrice; Stampfer, Meir; Stone, Jennifer; Tamimi, Rulla M; Teras, Lauren R; Tikkanen, Emmi; Turman, Constance; Vachon, Celine M; Wang, Qin; Winqvist, Robert; Wolk, Alicja; Zemel, Babette S; Zheng, Wei; van Dijk, Ko W; Alizadeh, Behrooz Z; Bandinelli, Stefania; Boerwinkle, Eric; Boomsma, Dorret I; Ciullo, Marina; Chenevix-Trench, Georgia; Cucca, Francesco; Esko, Tõnu; Gieger, Christian; Grant, Struan F A; Gudnason, Vilmundur; Hayward, Caroline; Kolčić, Ivana; Kraft, Peter; Lawlor, Deborah A; Martin, Nicholas G; Nøhr, Ellen A; Pedersen, Nancy L; Pennell, Craig E; Ridker, Paul M; Robino, Antonietta; Snieder, Harold; Sovio, Ulla; Spector, Tim D; Stöckl, Doris; Sudlow, Cathie; Timpson, Nic J; Toniolo, Daniela; Uitterlinden, André; Ulivi, Sheila; Völzke, Henry; Wareham, Nicholas J; Widen, Elisabeth; Wilson, James F; Pharoah, Paul D P; Li, Liming; Easton, Douglas F; Njølstad, Pål R; Sulem, Patrick; Murabito, Joanne M; Murray, Anna; Manousaki, Despoina; Juul, Anders; Erikstrup, Christian; Stefansson, Kari; Horikoshi, Momoko; Chen, Zhengming; Farooqi, I Sadaf; Pitteloud, Nelly; Johansson, Stefan; Day, Felix R; Perry, John R B; Ong, Ken K

Genetic landscape of pediatric acute liver failure of indeterminate origin

儿童不明原因急性肝衰竭的遗传图谱

Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier L; Crushell, Ellen; Dalgiç, Buket; Das, Anibh M; Dezsőfi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaçlioğlu, Ceyda T; Knoppke, Birgit; Kohl, Martina; Kölbel, Heike; Kölker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloğlu, Zarife; Kuster, Alice; Laass, Martin W; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Müller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petković Ramadža, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnès; Santer, René; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B; Zakharova, Ekaterina; Hoffmann, Georg F; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger

Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications

多性状分析能够阐明甲状腺功能的遗传特征,并识别与临床意义相关的因果关系。

Sterenborg, Rosalie B T M; Steinbrenner, Inga; Li, Yong; Bujnis, Melissa N; Naito, Tatsuhiko; Marouli, Eirini; Galesloot, Tessel E; Babajide, Oladapo; Andreasen, Laura; Astrup, Arne; Åsvold, Bjørn Olav; Bandinelli, Stefania; Beekman, Marian; Beilby, John P; Bork-Jensen, Jette; Boutin, Thibaud; Brody, Jennifer A; Brown, Suzanne J; Brumpton, Ben; Campbell, Purdey J; Cappola, Anne R; Ceresini, Graziano; Chaker, Layal; Chasman, Daniel I; Concas, Maria Pina; Coutinho de Almeida, Rodrigo; Cross, Simone M; Cucca, Francesco; Deary, Ian J; Kjaergaard, Alisa Devedzic; Echouffo Tcheugui, Justin B; Ellervik, Christina; Eriksson, Johan G; Ferrucci, Luigi; Freudenberg, Jan; Fuchsberger, Christian; Gieger, Christian; Giulianini, Franco; Gögele, Martin; Graham, Sarah E; Grarup, Niels; Gunjača, Ivana; Hansen, Torben; Harding, Barbara N; Harris, Sarah E; Haunsø, Stig; Hayward, Caroline; Hui, Jennie; Ittermann, Till; Jukema, J Wouter; Kajantie, Eero; Kanters, Jørgen K; Kårhus, Line L; Kiemeney, Lambertus A L M; Kloppenburg, Margreet; Kühnel, Brigitte; Lahti, Jari; Langenberg, Claudia; Lapauw, Bruno; Leese, Graham; Li, Shuo; Liewald, David C M; Linneberg, Allan; Lominchar, Jesus V T; Luan, Jian'an; Martin, Nicholas G; Matana, Antonela; Meima, Marcel E; Meitinger, Thomas; Meulenbelt, Ingrid; Mitchell, Braxton D; Møllehave, Line T; Mora, Samia; Naitza, Silvia; Nauck, Matthias; Netea-Maier, Romana T; Noordam, Raymond; Nursyifa, Casia; Okada, Yukinori; Onano, Stefano; Papadopoulou, Areti; Palmer, Colin N A; Pattaro, Cristian; Pedersen, Oluf; Peters, Annette; Pietzner, Maik; Polašek, Ozren; Pramstaller, Peter P; Psaty, Bruce M; Punda, Ante; Ray, Debashree; Redmond, Paul; Richards, J Brent; Ridker, Paul M; Russ, Tom C; Ryan, Kathleen A; Olesen, Morten Salling; Schultheiss, Ulla T; Selvin, Elizabeth; Siddiqui, Moneeza K; Sidore, Carlo; Slagboom, P Eline; Sørensen, Thorkild I A; Soto-Pedre, Enrique; Spector, Tim D; Spedicati, Beatrice; Srinivasan, Sundararajan; Starr, John M; Stott, David J; Tanaka, Toshiko; Torlak, Vesela; Trompet, Stella; Tuhkanen, Johanna; Uitterlinden, André G; van den Akker, Erik B; van den Eynde, Tibbert; van der Klauw, Melanie M; van Heemst, Diana; Verroken, Charlotte; Visser, W Edward; Vojinovic, Dina; Völzke, Henry; Waldenberger, Melanie; Walsh, John P; Wareham, Nicholas J; Weiss, Stefan; Willer, Cristen J; Wilson, Scott G; Wolffenbuttel, Bruce H R; Wouters, Hanneke J C M; Wright, Margaret J; Yang, Qiong; Zemunik, Tatijana; Zhou, Wei; Zhu, Gu; Zöllner, Sebastian; Smit, Johannes W A; Peeters, Robin P; Köttgen, Anna; Teumer, Alexander; Medici, Marco

New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center

德国一家新生儿筛查中心32年来通过新生儿筛查发现的马来酰乙酰乙酸异构酶缺乏症新病例及自然病程:经验总结

Gramer, Gwendolyn; Wortmann, Saskia B; Fang-Hoffmann, Junmin; Kohlmüller, Dirk; Okun, Jürgen G; Prokisch, Holger; Meitinger, Thomas; Hoffmann, Georg F