Literature DB >> 30981320

Next generation sequencing in clinical diagnosis.

Hane Lee, Julian A Martinez-Agosto, Jessica Rexach, Brent L Fogel.   

Abstract

Year:  2019        PMID: 30981320     DOI: 10.1016/S1474-4422(19)30110-3

Source DB:  PubMed          Journal:  Lancet Neurol        ISSN: 1474-4422            Impact factor:   44.182


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  2 in total

1.  Monogenic variants in dystonia: an exome-wide sequencing study.

Authors:  Michael Zech; Robert Jech; Sylvia Boesch; Matej Škorvánek; Sandrina Weber; Matias Wagner; Chen Zhao; Angela Jochim; Ján Necpál; Yasemin Dincer; Katharina Vill; Felix Distelmaier; Malgorzata Stoklosa; Martin Krenn; Stephan Grunwald; Tobias Bock-Bierbaum; Anna Fečíková; Petra Havránková; Jan Roth; Iva Příhodová; Miriam Adamovičová; Olga Ulmanová; Karel Bechyně; Pavlína Danhofer; Branislav Veselý; Vladimír Haň; Petra Pavelekova; Zuzana Gdovinová; Tobias Mantel; Tobias Meindl; Alexandra Sitzberger; Sebastian Schröder; Astrid Blaschek; Timo Roser; Michaela V Bonfert; Edda Haberlandt; Barbara Plecko; Birgit Leineweber; Steffen Berweck; Thomas Herberhold; Berthold Langguth; Jana Švantnerová; Michal Minár; Gonzalo Alonso Ramos-Rivera; Monica H Wojcik; Sander Pajusalu; Katrin Õunap; Ulrich A Schatz; Laura Pölsler; Ivan Milenkovic; Franco Laccone; Veronika Pilshofer; Roberto Colombo; Steffi Patzer; Arcangela Iuso; Julia Vera; Monica Troncoso; Fang Fang; Holger Prokisch; Friederike Wilbert; Matthias Eckenweiler; Elisabeth Graf; Dominik S Westphal; Korbinian M Riedhammer; Theresa Brunet; Bader Alhaddad; Riccardo Berutti; Tim M Strom; Martin Hecht; Matthias Baumann; Marc Wolf; Aida Telegrafi; Richard E Person; Francisca Millan Zamora; Lindsay B Henderson; David Weise; Thomas Musacchio; Jens Volkmann; Anna Szuto; Jessica Becker; Kirsten Cremer; Thomas Sycha; Fritz Zimprich; Verena Kraus; Christine Makowski; Pedro Gonzalez-Alegre; Tanya M Bardakjian; Laurie J Ozelius; Annalisa Vetro; Renzo Guerrini; Esther Maier; Ingo Borggraefe; Alice Kuster; Saskia B Wortmann; Annette Hackenberg; Robert Steinfeld; Birgit Assmann; Christian Staufner; Thomas Opladen; Evžen Růžička; Ronald D Cohn; David Dyment; Wendy K Chung; Hartmut Engels; Andres Ceballos-Baumann; Rafal Ploski; Oliver Daumke; Bernhard Haslinger; Volker Mall; Konrad Oexle; Juliane Winkelmann
Journal:  Lancet Neurol       Date:  2020-11       Impact factor: 44.182

Review 2.  Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.

Authors:  Carla Fuster-García; Belén García-Bohórquez; Ana Rodríguez-Muñoz; José M Millán; Gema García-García
Journal:  Genes (Basel)       Date:  2020-04-27       Impact factor: 4.096

  2 in total

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