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Papers共 22 篇Author StatisticsCo-AuthorSimilar Experts

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Structural and Non-Coding Variants Increase the Diagnostic Yield of Clinical Whole Genome Sequencing for Rare Diseases
Alistair T. Pagnamenta,Carme Camps,Edoardo Giacopuzzi,John M. Taylor,Mona Hashim,Eduardo Calpena,Pamela J. Kaisaki, Akiko Hashimoto,Jing Yu,Edward Sanders,Ron Schwessinger,Jim R. Hughes,Gerton Lunter,Helene Dreau,Matteo Ferla,Lukas Lange,Yesim Kesim,Vassilis Ragoussis,Dimitrios V. Vavoulis, Holger Allroggen,Olaf Ansorge,Christian Babbs,Siddharth Banka,Benito Baños-Piñero,David Beeson,Tal Ben-Ami,David L. Bennett,Celeste Bento,Edward Blair,Charlotte Brasch-Andersen,Katherine R. Bull,Holger Cario,Deirdre Cilliers,Valerio Conti,E. Graham Davies,Fatima Dhalla, Beatriz Diez Dacal,Yin Dong,James E. Dunford,Renzo Guerrini,Adrian L. Harris,Jane Hartley,Georg Hollander,Kassim Javaid,Maureen Kane,Deirdre Kelly,Dominic Kelly,Samantha J. L. Knight,Alexandra Y. Kreins,Erika M. Kvikstad,Craig B. Langman,Tracy Lester,Kate E. Lines,Simon R. Lord,Xin Lu,Sahar Mansour,Adnan Manzur,Reza Maroofian,Brian Marsden,Joanne Mason,Simon J. McGowan,Davide Mei,Hana Mlcochova,Yoshiko Murakami,Andrea H. Németh,Steven Okoli,Elizabeth Ormondroyd,Lilian Bomme Ousager,Jacqueline Palace,Smita Y. Patel,Melissa M. Pentony,Chris Pugh,Aboulfazl Rad, Archana Ramesh,Simone G. Riva,Irene Roberts,Noémi Roy,Outi Salminen, Kyleen D. Schilling,Caroline Scott,Arjune Sen,Conrad Smith,Mark Stevenson,Rajesh V. Thakker,Stephen R. F. Twigg,Holm H. Uhlig,Richard van Wijk,Barbara Vona,Steven Wall, Jing Wang,Hugh Watkins,Jaroslav Zak,Anna H. Schuh,Usha Kini,Andrew O. M. Wilkie,Niko Popitsch,Jenny C. Taylor
Genome Medicineno. 1 (2023)
Cited2Views0WOSBibtex
2
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Sub-genic Intolerance, ClinVar, and the Epilepsies: A Whole-Exome Sequencing Study of 29,165 Individuals
Joshua E. Motelow,Gundula Povysil,Ryan S. Dhindsa,Kate E. Stanley,Andrew Allen,Yen‐Chen Anne Feng,Daniel P. Howrigan,Liam Abbott,Katherine Tashman,Felecia Cerrato,Caroline Cusick,Tarjinder Singh,Henrike Heyne,Andrea Byrnes,Claire Churchhouse,Nick Watts,Matthew Solomonson, Dennis Lal, Namrata Gupta,Benjamin M. Neale,Gianpiero L. Cavalleri,Patrick Cossette,Chris Cotsapas,Peter De Jonghe,Tracy Dixon‐Salazar,Renzo Guerrini,Hákon Hákonarson,Erin L. Heinzen,Ingo Helbig,Patrick Kwan, Anthony G Marson,Slavé Petrovski,Sitharthan Kamalakaran,Sanjay M. Sisodiya,Randy Stewart,Sarah Weckhuysen, Chantal Depondt,Dennis Dlugos,Ingrid E. Scheffer,Pasquale Striano,Catharine Freyer,Roland Krause,Patrick May,Kevin E. McKenna,Brigid M. Regan,Caitlin A. Bennett,Costin Leu, Stephanie L. Leech,Terence J. O’Brien,Marian Todaro,Hannah Stamberger, Danielle M. Andrade,Quratulain Zulfiqar Ali,Tara Sadoway,Heinz Krestel,André Schaller,Savvas Papacostas,Ioanna Kousiappa,George A. Tanteles,Yiolanda Christou,Katalin Štěrbová,Markéta Vlčková,Lucie Sedláčková,Petra Laššuthová,Karl Martin Klein, Felix Rosenow,Philipp S. Reif,Susanne Knake,Bernd A. Neubauer,Friedrich Zimprich,Martha Feucht,Eva M. Reinthaler,Wolfram S. Kunz,Gábor Zsurka, Rainer Surges,Tobias Baumgartner,Randi von Wrede,Manuela Pendziwiat,Hiltrud Muhle,Annika Rademacher,Andreas van Baalen,Sarah von Spiczak,Ulrich Stephani,Zaid Afawi,Amos D. Korczyn,Moien Kanaan,Christina Canavati, Gerhard Kurlemann,Karen Müller‐Schlüter,Gerhard Kluger, Martin Häusler,Ilan Blatt, Johannes R. Lemke,Ilona Krey,Yvonne G. Weber,Stefan Wolking, Felicitas Becker,Stephan Lauxmann,Christian Malte Boßelmann,Josua Kegele,Christian Hengsbach,Sarah Rau,Bernhard J. Steinhoff,Andreas Schulze–Bonhage,Ingo Borggräfe,Christoph J. Schankin,Susanne Schubert‐Bast,Herbert Schreiber,Thomas Mayer,Rudolf Korinthenberg,Knut Brockmann, Markus Wolff,Dieter Dennig,Rene Madeleyn,Reetta Kälviäinen,Anni Saarela, Oskari Timonen,Tarja Linnankivi,Anna‐Elina Lehesjoki, Sylvain Rheims,Gaëtan Lesca,Philippe Ryvlin, Louis Maillard,Luc Valton,Philippe Derambure,Fabrice Bartoloméi,Édouard Hirsch,Véronique Michel, Francine Chassoux,Mark I. Rees, Seo‐Kyung Chung,William Owen Pickrell, Robert M. Powell, Mark D. Baker,Beata Fonferko‐Shadrach,Charlotte Lawthom, Joseph Anderson,Natascha Schneider,Simona Balestrini,Sara Zagaglia,Vera Braatz,Michael R. Johnson,Pauls Auce,Graeme J. Sills, Larry Baum, Pak C. Sham, Stacey S. Cherny,Colin Hiu Tung Lui,Norman Delanty,Colin Doherty,Arif Shukralla,Hany El‐Naggar,Peter Widdess‐Walsh,Nina Barišić,Laura Canafoglia, Silvana Franceschetti,Barbara Castellotti,Tiziana Granata,Francesca Ragona, Federico Zara,Michele Iacomino,Antonella Riva,Francesca Madia,Maria Stella Vari, Vincenzo Salpietro, Marcello Scala,Maria Margherita Mancardi,Lino Nobili,Elisabetta Amadori,Thea Giacomini,Francesca Bisulli,Tommaso Pippucci,Raffaella Minardi,Paolo Tinuper,Lorenzo Muccioli,Barbara Mostacci,Antonio Gambardella, Angelo Labate,Grazia Annesi,Lorella Manna,Monica Gagliardi,Elena Parrini,Davide Mei,Annalisa Vetro,Claudia Bianchini,Martino Montomoli,Viola Doccini,Carmen Barba, Shigeo Hirose,Atsushi Ishii,Toshimitsu Suzuki,Yushi Inoue,Kazuhiro Yamakawa,Ahmad Beydoun,Wassim Nasreddine, Nathalie K. Zgheib,Birutė Tumienė,Algirdas Utkus,Lynette G. Sadleir,Chontelle King,S. Hande Çağlayan,Mutluay Arslan, Zühal Yapıcı,Pınar Topaloğlu, Bülent Kara,Uluç Yiş,Dilşad Türkdoğan,Aslı Gündoğdu-Eken, Nerses Bebek,Sibel Uğur‐İşeri, Betül Baykan,Barış Salman,Garen Haryanyan,Emrah Yücesan,Yeşim Kesim, Çiğdem Özkara,Meng‐Han Tsai,Chen-Jui Ho, Lin Cheng, Lin,I‐Jun Chou, Annapurna Poduri,Beth R. Shiedley,Catherine Shain, Jeffrey L. Noebels, Alicia Goldman,Robyn M. Busch,Lara Jehi, Imad Najm,Lisa Ferguson,Jean Khoury,Tracy A. Glauser,Peggy O. Clark,Russell J. Buono,Thomas N. Ferraro,Michael R. Sperling,Warren Lo,Michael Privitera,Jacqueline French, Steven C. Schachter,Ruben Kuzniecky,Orrin Devinsky,Manu Hegde,David A. Greenberg,Colin A. Ellis,Ethan M. Goldberg,Katherine L. Helbig,Mahgenn Cosico,Priya Vaidiswaran,Eryn Fitch,Samuel F. Berkovic, Holger Lerche,Daniel H. Lowenstein,David B. Goldstein
American journal of human geneticsno. 10 (2021): 2024-2024
Cited1Views0Bibtex
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Author Statistics

#Papers: 23

#Citation: 264

H-Index: 5

G-Index: 12

Sociability: 6

Diversity: 2

Activity: 21

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