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

A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics.

多组学研究揭示,MRPL42 双等位基因变异会导致联合氧化磷酸化缺乏综合征。

Boschann Felix, Kopp Johannes, Römer Susanne, Küchler Oliver, Lyubenova Hristiana, von Kügelgen Nicolai, Hertstein Erik, Hagelstein Lea, Becker Christian, Becker Kerstin, Brachs Sebastian, Mai Knut, Meierhofer David, Seelow Dominik, Mundlos Stefan, Horn Denise, Schuelke Markus, Fischer-Zirnsak Björn

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

Functional analyses of splice site variants in TCF12

TCF12剪接位点变异的功能分析

Borst, Angela; Schweitzer, Tilmann; Horn, Denise; Kunstmann, Erdmute; König, Eva-Maria; Pluta, Natalie; Klopocki, Eva

A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes

与家族性卵母细胞停滞和精子染色体过早浓缩相关的TRIP13纯合致病变异

Schweiger, Michal; Reis, André; Gümüslü, Esen; Krebsova, Alice; Raab, Andreas; Lang, Christine; Horn, Denise; Sperling, Karl; Neitzel, Heidemarie

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

The importance of routine genetic testing in pediatric epilepsy surgery

儿童癫痫手术中常规基因检测的重要性

Becker, Lena-Luise; Makridis, Konstantin L; Abad-Perez, Angela T; Thomale, Ulrich-Wilhelm; Tietze, Anna; Elger, Christian E; Horn, Denise; Kaindl, Angela M

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

GestaltMatcher数据库——罕见人类疾病面部表型变异的全球参考数据库

Lesmann, Hellen; Hustinx, Alexander; Moosa, Shahida; Klinkhammer, Hannah; Marchi, Elaine; Caro, Pilar; Abdelrazek, Ibrahim M; Pantel, Jean Tori; Hagen, Merle Ten; Thong, Meow-Keong; Mazlan, Rifhan Azwani Binti; Tae, Sok Kun; Kamphans, Tom; Meiswinkel, Wolfgang; Li, Jing-Mei; Javanmardi, Behnam; Knaus, Alexej; Uwineza, Annette; Knopp, Cordula; Tkemaladze, Tinatin; Elbracht, Miriam; Mattern, Larissa; Jamra, Rami Abou; Velmans, Clara; Strehlow, Vincent; Jacob, Maureen; Peron, Angela; Dias, Cristina; Nunes, Beatriz Carvalho; Vilella, Thainá; Pinheiro, Isabel Furquim; Kim, Chong Ae; Melaragno, Maria Isabel; Weiland, Hannah; Kaptain, Sophia; Chwiałkowska, Karolina; Kwasniewski, Miroslaw; Saad, Ramy; Wiethoff, Sarah; Goel, Himanshu; Tang, Clara; Hau, Anna; Barakat, Tahsin Stefan; Panek, Przemysław; Nabil, Amira; Suh, Julia; Braun, Frederik; Gomy, Israel; Averdunk, Luisa; Ekure, Ekanem; Bergant, Gaber; Peterlin, Borut; Graziano, Claudio; Gaboon, Nagwa; Fiesco-Roa, Moisés; Spinelli, Alessandro Mauro; Wilpert, Nina-Maria; Phowthongkum, Prasit; Güzel, Nergis; Haack, Tobias B; Bitar, Rana; Tzschach, Andreas; Rodriguez-Palmero, Agusti; Brunet, Theresa; Rudnik-Schöneborn, Sabine; Contreras-Capetillo, Silvina Noemi; Oberlack, Ava; Samango-Sprouse, Carole; Sadeghin, Teresa; Olaya, Margaret; Platzer, Konrad; Borovikov, Artem; Schnabel, Franziska; Heuft, Lara; Herrmann, Vera; Oegema, Renske; Elkhateeb, Nour; Kumar, Sheetal; Komlosi, Katalin; Mohamed, Khoushoua; Kalantari, Silvia; Sirchia, Fabio; Martinez-Monseny, Antonio F; Höller, Matthias; Toutouna, Louiza; Mohamed, Amal; Lasa-Aranzasti, Amaia; Sayer, John A; Ehmke, Nadja; Danyel, Magdalena; Sczakiel, Henrike; Schwartzmann, Sarina; Boschann, Felix; Zhao, Max; Adam, Ronja; Einicke, Lara; Horn, Denise; Chew, Kee Seang; Kam, Choy Chen; Karakoyun, Miray; Pode-Shakked, Ben; Eliyahu, Aviva; Rock, Rachel; Carrion, Teresa; Chorin, Odelia; Zarate, Yuri A; Conti, Marcelo Martinez; Karakaya, Mert; Tung, Moon Ley; Chandra, Bharatendu; Bouman, Arjan; Lumaka, Aime; Wasif, Naveed; Shinawi, Marwan; Blackburn, Patrick R; Wang, Tianyun; Niehues, Tim; Schmidt, Axel; Roth, Regina Rita; Wieczorek, Dagmar; Hu, Ping; Waikel, Rebekah L; Ledgister Hanchard, Suzanna E; Elmakkawy, Gehad; Safwat, Sylvia; Ebstein, Frédéric; Krüger, Elke; Küry, Sébastien; Bézieau, Stéphane; Arlt, Annabelle; Olinger, Eric; Marbach, Felix; Li, Dong; Dupuis, Lucie; Mendoza-Londono, Roberto; Houge, Sofia Douzgou; Weis, Denisa; Chung, Brian Hon-Yin; Mak, Christopher C Y; Kayserili, Hülya; Elcioglu, Nursel; Aykut, Ayca; Şimşek-Kiper, Peli Özlem; Bögershausen, Nina; Wollnik, Bernd; Bentzen, Heidi Beate; Kurth, Ingo; Netzer, Christian; Jezela-Stanek, Aleksandra; Devriendt, Koen; Gripp, Karen W; Mücke, Martin; Verloes, Alain; Schaaf, Christian P; Nellåker, Christoffer; Solomon, Benjamin D; Nöthen, Markus M; Abdalla, Ebtesam; Lyon, Gholson J; Krawitz, Peter M; Hsieh, Tzung-Chien

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

GestaltMatcher数据库——罕见人类疾病面部表型变异的全球参考数据库

Lesmann, Hellen; Hustinx, Alexander; Moosa, Shahida; Klinkhammer, Hannah; Marchi, Elaine; Caro, Pilar; Abdelrazek, Ibrahim M; Pantel, Jean Tori; Hagen, Merle Ten; Thong, Meow-Keong; Binti Mazlan, Rifhan Azwani; Tae, Sok Kun; Kamphans, Tom; Meiswinkel, Wolfgang; Li, Jing-Mei; Javanmardi, Behnam; Knaus, Alexej; Uwineza, Annette; Knopp, Cordula; Tkemaladze, Tinatin; Elbracht, Miriam; Mattern, Larissa; Jamra, Rami Abou; Velmans, Clara; Strehlow, Vincent; Jacob, Maureen; Peron, Angela; Dias, Cristina; Nunes, Beatriz Carvalho; Vilella, Thainá; Pinheiro, Isabel Furquim; Kim, Chong Ae; Melaragno, Maria Isabel; Weiland, Hannah; Kaptain, Sophia; Chwiałkowska, Karolina; Kwasniewski, Miroslaw; Saad, Ramy; Wiethoff, Sarah; Goel, Himanshu; Tang, Clara; Hau, Anna; Barakat, Tahsin Stefan; Panek, Przemysław; Nabil, Amira; Suh, Julia; Braun, Frederik; Gomy, Israel; Averdunk, Luisa; Ekure, Ekanem; Bergant, Gaber; Peterlin, Borut; Graziano, Claudio; Gaboon, Nagwa; Fiesco-Roa, Moisés; Spinelli, Alessandro Mauro; Wilpert, Nina-Maria; Phowthongkum, Prasit; Güzel, Nergis; Haack, Tobias B; Bitar, Rana; Tzschach, Andreas; Rodriguez-Palmero, Agusti; Brunet, Theresa; Rudnik-Schöneborn, Sabine; Contreras-Capetillo, Silvina Noemi; Oberlack, Ava; Samango-Sprouse, Carole; Sadeghin, Teresa; Olaya, Margaret; Platzer, Konrad; Borovikov, Artem; Schnabel, Franziska; Heuft, Lara; Herrmann, Vera; Oegema, Renske; Elkhateeb, Nour; Kumar, Sheetal; Komlosi, Katalin; Mohamed, Khoushoua; Kalantari, Silvia; Sirchia, Fabio; Martinez-Monseny, Antonio F; Höller, Matthias; Toutouna, Louiza; Mohamed, Amal; Lasa-Aranzasti, Amaia; Sayer, John A; Ehmke, Nadja; Danyel, Magdalena; Sczakiel, Henrike; Schwartzmann, Sarina; Boschann, Felix; Zhao, Max; Adam, Ronja; Einicke, Lara; Horn, Denise; Chew, Kee Seang; Kam, Choy Chen; Karakoyun, Miray; Pode-Shakked, Ben; Eliyahu, Aviva; Rock, Rachel; Carrion, Teresa; Chorin, Odelia; Zarate, Yuri A; Conti, Marcelo Martinez; Karakaya, Mert; Tung, Moon Ley; Chandra, Bharatendu; Bouman, Arjan; Lumaka, Aime; Wasif, Naveed; Shinawi, Marwan; Blackburn, Patrick R; Wang, Tianyun; Niehues, Tim; Schmidt, Axel; Roth, Regina Rita; Wieczorek, Dagmar; Hu, Ping; Waikel, Rebekah L; Ledgister Hanchard, Suzanna E; Elmakkawy, Gehad; Safwat, Sylvia; Ebstein, Frédéric; Krüger, Elke; Küry, Sébastien; Bézieau, Stéphane; Arlt, Annabelle; Olinger, Eric; Marbach, Felix; Li, Dong; Dupuis, Lucie; Mendoza-Londono, Roberto; Houge, Sofia Douzgou; Weis, Denisa; Chung, Brian Hon-Yin; Mak, Christopher C Y; Kayserili, Hülya; Elcioglu, Nursel; Aykut, Ayca; Şimşek-Kiper, Peli Özlem; Bögershausen, Nina; Wollnik, Bernd; Bentzen, Heidi Beate; Kurth, Ingo; Netzer, Christian; Jezela-Stanek, Aleksandra; Devriendt, Koen; Gripp, Karen W; Mücke, Martin; Verloes, Alain; Schaaf, Christian P; Nellåker, Christoffer; Solomon, Benjamin D; Nöthen, Markus M; Abdalla, Ebtesam; Lyon, Gholson J; Krawitz, Peter M; Hsieh, Tzung-Chien

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

视黄酸受体β亚基功能紊乱相关的临床和功能异质性

Caron, Véronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chorfi, Sarah; Lakhani, Saquib A; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R; van de Pol, Laura A; van Hagen, Johanna M; Russi, Alvaro Serrano; Le Guyader, Gwenaël; Nordenskjöld, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancié, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Françoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R; Calame, Daniel G; Geneviève, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A; Dobyns, William B; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M; Tremblay, André; Michaud, Jacques L

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

KIF21A基因的双等位基因功能缺失变异会导致严重的胎儿运动不能伴多发性关节挛缩。

Falb, Ruth J; Müller, Amelie J; Klein, Wolfram; Grimmel, Mona; Grasshoff, Ute; Spranger, Stephanie; Stöbe, Petra; Gauck, Darja; Kuechler, Alma; Dikow, Nicola; Schwaibold, Eva M C; Schmidt, Christoph; Averdunk, Luisa; Buchert, Rebecca; Heinrich, Tilman; Prodan, Natalia; Park, Joohyun; Kehrer, Martin; Sturm, Marc; Kelemen, Olga; Hartmann, Silke; Horn, Denise; Emmerich, Dirk; Hirt, Nina; Neumann, Armin; Kristiansen, Glen; Gembruch, Ulrich; Haen, Susanne; Siebert, Reiner; Hentze, Sabine; Hoopmann, Markus; Ossowski, Stephan; Waldmüller, Stephan; Beck-Wödl, Stefanie; Gläser, Dieter; Tekesin, Ismail; Distelmaier, Felix; Riess, Olaf; Kagan, Karl-Oliver; Dufke, Andreas; Haack, Tobias B