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A

André Schaller

university of bern
H指数:27
被引数:2,614

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Learnings from familial visual snow syndrome: A case series

家族性视觉雪花综合征的启示：一个病例系列

IF0
2026-04-140
OA
Laura Weichsel MD; Nedelina Slavova MD; Franz Riederer MD; Adrian Scutelnic MD; Antonia Klein MD; Sophie De Beukelaer MD; André Schaller MD; Christiane Zweier MD; Christoph J. Schankin MD
SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland

SwissGenVar: 一个用于遗传变异临床级解释的平台，以促进瑞士的个性化医疗保健

JOURNAL OF PERSONALIZED MEDICINE
IF3
2024-06-170
OAAI
Kraemer, Dennis; Terumalai, Dillenn; Famiglietti, Maria Livia; Filges, Isabel; Joset, Pascal; Koller, Samuel; Maurer, Fabienne; Meier, Stephanie; Nouspikel, Thierry; Sanz, Javier; Zweier, Christiane; Abramowicz, Marc; Berger, Wolfgang; Cichon, Sven; Schaller, Andre; Superti-Furga, Andrea; Barbie, Valerie; Rauch, Anita
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
JOURNAL OF MEDICAL GENETICS
IF3.7
2023-04-135
PRE
Di Lazzaro Filho, Ricardo; Yamamoto, Guilherme Lopes; Silva, Tiago J.; Rocha, Leticia A.; Linnenkamp, Bianca D. W.; Castro, Matheus Augusto Araujo; Bartholdi, Deborah; Schaller, Andre; Leeb, Tosso; Kelmann, Samantha; Utagawa, Claudia Y.; Steiner, Carlos E.; Steinmetz, Leandra; Honjo, Rachel Sayuri; Kim, Chong Ae; Wang, Lisa; Abourjaili-Bilodeau, Raphael; Campeau, Philippe; Warman, Matthew; Passos-Bueno, Maria Rita; Hoch, Nicolas C.; Bertola, Debora Romeo
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

亚基因不耐受，ClinVar和癫痫: 29,165个人的全外显子组测序研究

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-06-0143
OAAI
Motelow, Joshua E.; Povysil, Gundula; Dhindsa, Ryan S.; Stanley, Kate E.; Allen, Andrew S.; Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Cusick, Caroline; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea E.; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Gupta, Namrata; Neale, Benjamin M.; Cavalleri, Gianpiero L.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slave; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bennett, Caitlin A.; Leu, Costin; Leech, Stephanie L.; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Ali, Quratulain Zulfiqar; Sadoway, Tara R.; Krestel, Heinz; Schaller, Andre; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Christou, Yiolanda; Sterbova, Katalin; Vlckova, Marketa; Sedlackova, Lucie; Lassuthova, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Neubauer, Bernd A.; Zimprich, Friedrich; Feucht, Martha; Reinthaler, Eva M.; Kunz, Wolfram S.; Zsurka, Gabor; Surges, Rainer; Baumgartner, Tobias; von Wrede, Randi; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Muller-Schluter, Karen; Kluger, Gerhard; Haeusler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Lauxmann, Stephan; Bosselmann, Christian; Kegele, Josua; Hengsbach, Christian; Rau, Sarah; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Borggraefe, Ingo; Schankin, Christoph J.; Schubert-Bast, Susanne; Schreiber, Herbert; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Wolff, Markus; Dennig, Dieter; Madeleyn, Rene; Kalviainen, Reetta; Saarela, Anni; Timonen, Oskari; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rheims, Sylvain; Lesca, Gaetan; Ryvlin, Philippe; Maillard, Louis; Valton, Luc; Derambure, Philippe; Bartolomei, Fabrice; Hirsch, Edouard; Michel, Veronique; Chassoux, Francine; Rees, Mark, I; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert; Baker, Mark D.; Fonferko-Shadrach, Beata; Lawthom, Charlotte; Anderson, Joseph; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H. T.; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; El-Naggar, Hany; Widdess-Walsh, Peter; Barisi, Nina; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Ragona, Francesca; Zara, Federico; Iacomino, Michele; Riva, Antonella; Madia, Francesca; Vari, Maria Stella; Salpietro, Vincenzo; Scala, Marcello; Mancardi, Maria Margherita; Nobili, Lino; Amadori, Elisabetta; Giacomini, Thea; Bisulli, Francesca; Pippucci, Tommaso; Licchetta, Laura; Minardi, Raffaella; Tinuper, Paolo; Muccioli, Lorenzo; Mostacci, Barbara; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Barba, Carmen; Hirose, Shinichi; Ishii, Atsushi; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Beydoun, Ahmad; Nasreddine, Wassim; Zgheib, Nathalie Khoueiry; Tumiene, Birute; Utkus, Algirdas; Sadleir, Lynette G.; King, Chontelle; Caglayan, S. Hande; Arslan, Mutluay; Yapici, Zuhal; Topaloglu, Pinar; Kara, Bulent; Yis, Uluc; Turkdogan, Dilsad; Gundogdu-Eken, Asli; Bebek, Nerses; Tsai, Meng-Han; Ho, Chen-Jui; Lin, Chih-Hsiang; Lin, Kuang-Lin; Chou, I-Jun; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Noebels, Jeffrey L.; Goldman, Alicia; Busch, Robyn M.; Jehi, Lara; Najm, Imad M.; Ferguson, Lisa; Khoury, Jean; Glauser, Tracy A.; Clark, Peggy O.; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben, I; Devinsky, Orrin; Hegde, Manu; Greenberg, David A.; Ellis, Colin A.; Goldberg, Ethan; Helbig, Katherine L.; Cosico, Mahgenn; Vaidiswaran, Priya; Fitch, Eryn; Berkovic, Samuel F.; Lerche, Holger; Lowenstein, Daniel H.; Goldstein, David B.
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2015-03-1392
OAAI
Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, Andre; Kotzaeridou, Urania; de Vries, Maaike C.; Schottmann, Gudrun; Santra, Saikat; Buechner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; Memari, Yasin; Kolb-Kokocinski, Anja; Durbin, Richard; Hasselmann, Oswald; Cremer, Kirsten; Albrecht, Beate; Wieczorek, Dagmar; Engels, Hartmut; Hahn, Dagmar; Zink, Alexander M.; Alston, Charlotte L.; Taylor, Robert W.; Rodenburg, Richard J.; Trollmann, Regina; Sperl, Wolfgang; Strom, Tim M.; Hoffmann, Georg F.; Mayr, Johannes A.; Meitinger, Thomas; Bolognini, Ramona; Schuelke, Markus; Nuoffer, Jean-Marc; Koelker, Stefan; Prokisch, Holger; Klopstock, Thomas
Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis
HUMAN MOLECULAR GENETICS
IF3.2
2014-02-2044
OA
Stickel, Felix; Buch, Stephan; Zoller, Heinz; Hultcrantz, Rolf; Gallati, Sabina; Oesterreicher, Christoph; Finkenstedt, Armin; Stadlmayr, Andreas; Aigner, Elmar; Sahinbegovic, Enijad; Sarrazin, Christoph; Schafmayer, Clemens; Braun, Felix; Erhart, Wiebke; Nothnagel, Michael; Lerch, Markus M.; Mayerle, Julia; Voelzke, Henry; Schaller, Andre; Kratzer, Wolfgang; Boehm, Bernhard O.; Sipos, Bence; D'Amato, Mauro; Torkvist, Leif; Stal, Per; Arlt, Alexander; Franke, Andre; Becker, Thomas; Krawczak, Michael; Zwerina, Jochen; Berg, Thomas; Hinrichsen, Holger; Krones, Elisabeth; Dejaco, Christian; Strasser, Michael; Datz, Christian; Hampe, Jochen

研究方向

暂未获取到该数据
S
Sabina Gallati
H 指数:34论文数:214被引数:5,503
J
Jean‐Marc Nuoffer
H 指数:32论文数:301被引数:3,303
C
Christopher B. Jackson
H 指数:27论文数:97被引数:3,039
D
Dagmar Hahn
H 指数:22论文数:65被引数:1,642
T
Thomas von Känel
H 指数:8论文数:28被引数:404
J
Javier Sanz
H 指数:10论文数:31被引数:419
A
Argelia Medeiros‐Domingo
H 指数:35论文数:146被引数:5,313
C
Christoph Aebi
H 指数:49论文数:273被引数:7,352
M
Martin Konrad
H 指数:58论文数:274被引数:1.2万
R
Rolf Troller
H 指数:15论文数:23被引数:556