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J

Johannes R. Lemke

University of Leipzig Medical Center

60H指数
298论文数
1.2W被引数
收录论文 122
发表时间
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Clinical Impact of Genetic Testing in Inherited Kidney Diseases遗传检测在遗传性肾脏疾病中的临床影响
errClinical Kidney Journal
IF4.6
err2026-05-19
err0
errOAAI
errLea M Merz; Sarah Stopp; Ilona Krey; Fabian Baalmann; Emilia Marczak; Nora Liebmann; Olga Hempel; Bastian M Krüger; Marie Engesser; Anne-Christin Teichmann; Franziska Schnabel; Rami A Jamra; Johannes Lemke; Carsten Bergmann; Tom H Lindner; Jonathan de Fallois; Johannes Münch; Jan Halbritter; Katalin Dittrich; Friederike Petzold; null
err分享
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Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy更正：GRIN2A功能缺失变体会增加早发性精神分裂症及其他精神障碍的风险，并可能实现精准治疗
errMolecular Psychiatry
IF10.1
err2026-01-07
err0
errOAAI
errJohannes R. Lemke; Andrea Eoli; Ilona Krey; Bernt Popp; Vincent Strehlow; Dirk A. Wittekind; Anna-Leena Vuorinen; Hesham M. Aldhalaan; Sarah Baer; Anne de Saint Martin; Trine B. Hammer; Isabella Herman; Frauke Hornemann; Trine Ingebrigtsen; Damien Lederer; Gaetan Lesca; Dana Marafie; Mikael Mathot; Jill A. Rosenfeld; Rikke S. Møller; Helenius J. Schelhaas; Chelsey Stillman; Alessandro Orsini; Anup D. Patel; Juliette Piard; Pierangelo Veggiotti; Danique R. M. Vlaskamp; Sarah Weckhuysen; Stephen F. Traynelis; Tim A. Benke; Henrike O. Heyne; Steffen Syrbe
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GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapyGRIN2A功能丧失性变异会增加早发性精神分裂症及其他精神疾病的风险，并可能实现精准治疗。
errMolecular Psychiatry
IF10.1
err2025-10-14
err0
errOAAI
errJohannes R. Lemke; Andrea Eoli; Ilona Krey; Bernt Popp; Vincent Strehlow; Dirk A. Wittekind; Anna-Leena Vuorinen; Hesham M. Aldhalaan; Sarah Baer; Anne de Saint Martin; Trine B. Hammer; Isabella Herman; Frauke Hornemann; Trine Ingebrigtsen; Damien Lederer; Gaetan Lesca; Dana Marafie; Mikael Mathot; Jill A. Rosenfeld; Rikke S. Møller; Helenius J. Schelhaas; Chelsey Stillman; Alessandro Orsini; Anup D. Patel; Juliette Piard; Pierangelo Veggiotti; Danique R. M. Vlaskamp; Sarah Weckhuysen; Stephen F. Traynelis; Tim A. Benke; Henrike O. Heyne; Steffen Syrbe
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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: 将下一代表型整合到超早期疾病患者的国家框架中，可改善遗传诊断并产生新的分子发现
errNature Genetics
IF0
err2025-06-24
err0
errOAAI
errAxel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner
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Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals检测单基因肥胖：一项超过500名个体的全外显子组系统性检查
errInternational Journal of Obesity
IF3.8
err2025-06-16
err0
errOAAI
errRobert Künzel; Helene Faust; Linnaeus Bundalian; Matthias Blüher; Mariami Jasaszwili; Anna Kirstein; Albrecht Kobelt; Antje Körner; Denny Popp; Eric Wenzel; Rami Abou Jamra; Johannes R. Lemke; Torsten Schöneberg; Robert Stein; Antje Garten; Diana Le Duc
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err收藏
Screening for Hypophosphatasia in Adult Patients at a Maximum Care Provider-Retrospective Analyses over Fifteen Years
errJOURNAL OF CLINICAL MEDICINE
IF2.9
err2024-12-02
err0
errOAAI
errHennings, Robert; Le Duc, Diana; Bundalian, Linnaeus; Toenjes, Anke; Lemke, Johannes R.; Thiery, Joachim; Kratzsch, Juergen; Roth, Andreas
err分享
err收藏
Ligand distances as key predictors of pathogenicity and function in NMDA receptors配体距离是NMDA受体致病性和功能的关键预测因子
errHUMAN MOLECULAR GENETICS
IF3.2
err2024-11-13
err0
errOAAI
errMontanucci, Ludovica; Bruenger, Tobias; Bhattarai, Nisha; Bosselmann, Christian M.; Kim, Sukhan; Allen, James P.; Zhang, Jing; Kloeckner, Chiara; Krey, Ilona; Fariselli, Piero; May, Patrick; Lemke, Johannes R.; Myers, Scott J.; Yuan, Hongjie; Traynelis, Stephen F.; Lal, Dennis
err分享
err收藏
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-10-11
err1
errOAAI
errD'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R.; Morelli, Federica; Ramadza, Danijela Petkovic; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria
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Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants
errEBIOMEDICINE
IF10.8
err2024-08-01
err3
errOAAI
errMohammadi, Nazanin Azarinejad; Ahring, Philip Kiaer; Liao, Vivian Wan Yu; Chua, Han Chow; Rosa, Sebastian Ortiz de la; Johannesen, Katrine Marie; Michaeli-Yossef, Yael; Vincent-Devulder, Aline; Meridda, Catherine; Bruel, Ange-Line; Rossi, Alessandra; Patel, Chirag; Klepper, Joerg; Bonanni, Paolo; Minghetti, Sara; Trivisano, Marina; Specchio, Nicola; Amor, David; Auvin, Stephane; Baer, Sarah; Meyer, Pierre; Milh, Mathieu; Salpietro, Vincenzo; Maroo, Reza; Lemke, Johannes R.; Weckhuysen, Sarah; Christophersen, Palle; Rubboli, Guido; Chebib, Mary; Jensen, Anders A.; Absalom, Nathan L.; Moller, Rikke Steensbjerre
err分享
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Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants
errEPILEPSIA
IF6.6
err2024-07-02
err1
PREAI
errCuccurullo, Claudia; Irelli, Emanuele Cerulli; Ugga, Lorenzo; Riva, Antonella; D'Amico, Alessandra; Cabet, Sara; Lesca, Gaetan; Bilo, Leonilda; Zara, Federico; Iliescu, Catrinel; Barca, Diana; Fung, France; Helbig, Katherine; Ortiz-Gonzalez, Xilma; Schelhaas, Helenius J.; Willemsen, Marjolein H.; van der Linden, Inge; Canafoglia, Laura; Courage, Carolina; Gommaraschi, Samuele; Gonzalez-Alegre, Pedro; Bardakjian, Tanya; Syrbe, Steffen; Schuler, Elisabeth; Lemke, Johannes R.; Vari, Stella; Roende, Gitte; Bak, Mads; Huq, Mahbulul; Powis, Zoe; Johannesen, Katrine M.; Hammer, Trine Bjorg; Moller, Rikke S.; Rabin, Rachel; Pappas, John; Zupanc, Mary L.; Zadeh, Neda; Cohen, Julie; Naidu, Sakkubai; Krey, Ilona; Saneto, Russell; Thies, Jenny; Licchetta, Laura; Tinuper, Paolo; Bisulli, Francesca; Minardi, Raffaella; Bayat, Allan; Villeneuve, Nathalie; Molinari, Florence; Dafsari, Hormos Salimi; Moller, Birk; Le Roux, Marie; Houdayer, Clara; Vecchi, Marilena; Mammi, Isabella; Fiorini, Elena; Proietti, Jacopo; Ferri, Sofia; Cantalupo, Gaetano; Battaglia, Domenica Immacolata; Gambardella, Maria Luigia; Contaldo, Ilaria; Brogna, Claudia; Trivisano, Marina; De Dominicis, Angela; Bova, Stefania Maria; Gardella, Elena; Striano, Pasquale; Coppola, Antonietta
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De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor
errCELLULAR AND MOLECULAR LIFE SCIENCES
IF6.2
err2024-03-28
err3
errOAAI
errXu, Yuchen; Song, Rui; Perszyk, Riley E.; Chen, Wenjuan; Kim, Sukhan; Park, Kristen L.; Allen, James P.; Nocilla, Kelsey A.; Zhang, Jing; Xiangwei, Wenshu; Tankovic, Anel; McDaniels, Ellington D.; Sheikh, Rehan; Mizu, Ruth K.; Karamchandani, Manish M.; Hu, Chun; Kusumoto, Hirofumi; Pecha, Joseph; Cappuccio, Gerarda; Gaitanis, John; Sullivan, Jennifer; Shashi, Vandana; Petrovski, Slave; Jauss, Robin-Tobias; Lee, Hyun Kyung; Bozarth, Xiuhua; Lynch, David R.; Helbig, Ingo; Pierson, Tyler Mark; Boerkoel, Cornelius F.; Myers, Scott J.; Lemke, Johannes R.; Benke, Timothy A.; Yuan, Hongjie; Traynelis, Stephen F.
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Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA从古代DNA中发现的历史和史前个体中的21三体和18三体病例
errNATURE COMMUNICATIONS
IF15.7
err2024-02-20
err5
errOAAI
errRohrlach, Adam Benjamin; Rivollat, Maite; de-Miguel-Ibanez, Patxuka; Moilanen, Ulla; Liira, Anne-Mari; Teixeira, Joao C.; Roca-Rada, Xavier; Armendariz-Martija, Javier; Boyadzhiev, Kamen; Boyadzhiev, Yavor; Llamas, Bastien; Tiliakou, Anthi; Moetsch, Angela; Tuke, Jonathan; Prevedorou, Eleni-Anna; Polychronakou-Sgouritsa, Naya; Buikstra, Jane; Onkamo, Paeivi; Stockhammer, Philipp W.; Heyne, Henrike O.; Lemke, Johannes R.; Risch, Roberto; Schiffels, Stephan; Krause, Johannes; Haak, Wolfgang; Pruefer, Kay
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err收藏
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
errBRAIN
IF11.7
err2023-12-01
err2
errOAAI
errRinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G.; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H.; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M.; Pedersen, Miriam G.; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andree; Emrick, Lisa T.; Sully, Krystal; Murali, Chaya N.; Burrage, Lindsay C.; Gonzalez, Julie Ana Plaud; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jeremie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Melanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Valenzuela, Fernando Eduardo Ayala; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Romero, Leslie Patron; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortuem, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Moller, Rikke S.; Tumer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R.; Shi, Yun Stone; Kristensen, Anders S.
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Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIbII型局灶性皮质发育不良的深层组织病理学基因型-表型分析GATOR1-altered自噬细胞亚型IIa和MTOR改变的迁移缺陷亚型IIb之间的差异
errACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
err2023-11-09
err3
errOAAI
errHonke, Jonas; Hoffmann, Lucas; Coras, Roland; Kobow, Katja; Leu, Costin; Pieper, Tom; Hartlieb, Till; Bien, Christian G.; Woermann, Friedrich; Cloppenborg, Thomas; Kalbhenn, Thilo; Gaballa, Ahmed; Hamer, Hajo; Brandner, Sebastian; Roessler, Karl; Doerfler, Arnd; Rampp, Stefan; Lemke, Johannes R.; Baldassari, Sara; Baulac, Stephanie; Lal, Dennis; Nuernberg, Peter; Bluemcke, Ingmar
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Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants错觉GRID1和GRID2人类变体的临床特征，功能后果和救援药理学
errHUMAN MOLECULAR GENETICS
IF3.2
err2023-11-07
err5
errOAAI
errAllen, James P.; Garber, Kathryn B.; Perszyk, Riley; Khayat, Cara T.; Kell, Steven A.; Kaneko, Maki; Quindipan, Catherine; Saitta, Sulagna; Ladda, Roger L.; Hewson, Stacy; Inbar-Feigenberg, Michal; Prasad, Chitra; Prasad, Asuri N.; Olewiler, Leah; Mu, Weiyu; Rosenthal, Liana S.; Scala, Marcello; Striano, Pasquale; Zara, Federico; McCullock, Tyler W.; Jauss, Robin-Tobias; Lemke, Johannes R.; MacLean, David M.; Zhu, Cheng; Yuan, Hongjie; Myers, Scott J.; Traynelis, Stephen F.
err分享
err收藏
Clinical and functional consequences of GRIA variants in patients with neurological diseases
errCELLULAR AND MOLECULAR LIFE SCIENCES
IF6.2
err2023-11-03
err1
errOAAI
errXiangWei, Wenshu; Perszyk, Riley E.; Liu, Nana; Xu, Yuchen; Bhattacharya, Subhrajit; Shaulsky, Gil H.; Smith-Hicks, Constance; Fatemi, Ali; Fry, Andrew E.; Chandler, Kate; Wang, Tao; Vogt, Julie; Cohen, Julie S.; Paciorkowski, Alex R.; Poduri, Annapurna; Zhang, Yuehua; Wang, Shuang; Wang, Yuping; Zhai, Qiongxiang; Fang, Fang; Leng, Jie; Garber, Kathryn; Myers, Scott J.; Jauss, Robin-Tobias; Park, Kristen L.; Benke, Timothy A.; Lemke, Johannes R.; Yuan, Hongjie; Jiang, Yuwu; Traynelis, Stephen F.
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Advanced control strategies for continuous capture of monoclonal antibodies based upon biolayer interferometry
errBIOTECHNOLOGY AND BIOENGINEERING
IF3.6
err2023-11-03
err2
errOAAI
errKruse, Thomas; Austerjost, Jonas; Lemke, Johannes; Krasov, Yuri; Popov, Vasiliy; Pollard, David; Kampmann, Markus
err分享
err收藏
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons
errCOMMUNICATIONS BIOLOGY
IF5.1
err2023-09-19
err9
errOAAI
errCamp, Chad R.; Vlachos, Anna; Kloeckner, Chiara; Krey, Ilona; Banke, Tue G.; Shariatzadeh, Nima; Ruggiero, Sarah M.; Galer, Peter; Park, Kristen L.; Caccavano, Adam; Kimmel, Sarah; Yuan, Xiaoqing; Yuan, Hongjie; Helbig, Ingo; Benke, Tim A.; Lemke, Johannes R.; Pelkey, Kenneth A.; McBain, Chris J.; Traynelis, Stephen F.
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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture超过29,000名癫痫患者的ghis荟萃分析确定了26个风险基因座和亚型特异性遗传结构
errNATURE GENETICS
IF31.8
err2023-08-31
err43
errOAAI
errStevelink, Remi; Campbell, Ciaran; Chen, Siwei; Abou-Khalil, Bassel; Adesoji, Oluyomi M.; Afawi, Zaid; Amadori, Elisabetta; Anderson, Alison; Anderson, Joseph; Andrade, Danielle M.; Annesi, Grazia; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bast, Thomas; Baum, Larry; Baumgartner, Tobias; Baykan, Betul; Bebek, Nerses; Becker, Albert J.; Becker, Felicitas; Bennett, Caitlin A.; Berghuis, Bianca; Berkovic, Samuel F.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blatt, Ilan; Bobbili, Dheeraj R.; Borggraefe, Ingo; Bosselmann, Christian; Braatz, Vera; Bradfield, Jonathan P.; Brockmann, Knut; Brody, Lawrence C.; Buono, Russell J.; Busch, Robyn M.; Caglayan, Hande; Campbell, Ellen; Canafoglia, Laura; Canavati, Christina; Cascino, Gregory D.; Castellotti, Barbara; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherny, Stacey S.; Cheung, Ching-Lung; Chinthapalli, Krishna; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Clark, Peggy O.; Cole, Andrew J.; Compston, Alastair; Coppola, Antonietta; Cosico, Mahgenn; Cossette, Patrick; Craig, John J.; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; de Haan, Gerrit-Jan; Delanty, Norman; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Elger, Christian E.; Ellis, Colin A.; Eriksson, Johan G.; Faucon, Annika; Feng, Yen-Chen A.; Ferguson, Lisa; Ferraro, Thomas N.; Ferri, Lorenzo; Feucht, Martha; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; Franke, Andre; French, Jacqueline A.; Freri, Elena; Gagliardi, Monica; Gambardella, Antonio; Geller, Eric B.; Giangregorio, Tania; Gjerstad, Leif; Glauser, Tracy; Goldberg, Ethan; Goldman, Alicia; Granata, Tiziana; Greenberg, David A.; Guerrini, Renzo; Gupta, Namrata; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Hassanin, Emadeldin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike O.; Hirose, Shinichi; Hirsch, Edouard; Hjalgrim, Helle; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Cheng; Iacomino, Michele; Imbach, Lukas L.; Inoue, Yushi; Ishii, Atsushi; Jamnadas-Khoda, Jennifer; Jehi, Lara; Johnson, Michael R.; Kalviainen, Reetta; Kamatani, Yoichiro; Kanaan, Moien; Kanai, Masahiro; Kantanen, Anne-Mari; Kara, Bulent; Kariuki, Symon M.; Kasperaviciute, Dalia; Trenite, Dorothee Kasteleijn-Nolst; Kato, Mitsuhiro; Kegele, Josua; Kesim, Yescommaim; Khoueiry-Zgheib, Nathalie; King, Chontelle; Kirsch, Heidi E.; Klein, Karl M.; Kluger, Gerhard; Knake, Susanne; Knowlton, Robert C.; Koeleman, Bobby P. C.; Korczyn, Amos D.; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurki, Mitja I.; Kurlemann, Gerhard; Kuzniecky, Ruben; Kwan, Patrick; Labate, Angelo; Lacey, Austin; Lal, Dennis; Landoulsi, Zied; Lau, Yu-Lung; Lauxmann, Stephen; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria H. -Y.; Li, Qingqin S.; Licchetta, Laura; Lin, Kuang-Lin; Lindhout, Dick; Linnankivi, Tarja; Lopes-Cendes, Iscia; Lowenstein, Daniel H.; Lui, Colin H. T.; Madia, Francesca; Magnusson, Sigurdur; Marson, Anthony G.; May, Patrick; McGraw, Christopher M.; Mei, Davide; Mills, James L.; Minardi, Raffaella; Mirza, Nasir; Moller, Rikke S.; Molloy, Anne M.; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Mueller-Schlueter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd; Newton, Charles R. J. C.; Noethen, Markus M.; Nothnagel, Michael; Nuernberg, Peter; O'Brien, Terence J.; Okada, Yukinori; Olafsson, Elias; Oliver, Karen L.; Ozkara, Cigdem; Palotie, Aarno; Pangilinan, Faith; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos N.; Pato, Michele T.; Pendziwiat, Manuela; Petrovski, Slave; Pickrell, William O.; Pinsky, Rebecca; Pippucci, Tommaso; Poduri, Annapurna; Pondrelli, Federica; Powell, Rob H. W.; Privitera, Michael; Rademacher, Annika; Radtke, Rodney; Ragona, Francesca; Rau, Sarah; Rees, Mark I.; Regan, Brigid M.; Reif, Philipp S.; Rhelms, Sylvain; Riva, Antonella; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Sander, Josemir W.; Sander, Thomas; Scala, Marcello; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sham, Pak; Sheidley, Beth R.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Stefansson, Hreinn; Stefansson, Kari; Steinhoff, Bernhard J.; Stephani, Ulrich; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Stroink, Hans; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Tan, K. Meng; Taneja, R. S.; Tanteles, George A.; Tauboll, Erik; Thio, Liu Lin; Thomas, G. Neil; Thomas, Rhys H.; Timonen, Oskari; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pinar; Tozzi, Rossana; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Unnsteinsdottir, Unnur; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; Vining, Eileen P. G.; Visscher, Frank; von Brauchitsch, Sophie; von Wrede, Randi; Wagner, Ryan G.; Weber, Yvonne G.; Weckhuysen, Sarah; Weisenberg, Judith; Weller, Michael; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Wu, David; Yamakawa, Kazuhiro; Yang, Wanling; Yapici, Zuhal; Yucesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zhou, Wei; Zimprich, Fritz; Zsurka, Gabor; Ali, Quratulain Zulfiqar
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SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisSLC6A1变异致病性、分子功能和表型: 遗传和临床分析
errBRAIN
IF11.7
err2023-08-30
err4
errOAAI
errStefanski, Arthur; Perez-Palma, Eduardo; Bruenger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Kloeckner, Chiara; Johannesen, Katrine M.; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T.; Aledo-Serrano, Angel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M.; Hajianpour, M. J.; Pal, Deb K.; Engelen, Marc; Hagebeuk, Eveline E. O.; Shinawi, Marwan; Heidlebaugh, Alexis R.; Oetjens, Kathryn; Hoffman, Trevor L.; Striano, Pasquale; Freed, Amanda S.; Futtrup, Line; Balslev, Thomas; Abuli, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B.; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R.; Tiller, Jacob; Freed, Amber N.; Kang, Jing-Qiong; Wuster, Arthur; Moller, Rikke S.; Lal, Dennis
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