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edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6950e31 Item: Title: MATERIALS AND METHODS Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@b7dd107 Children: Item: Title: Patient recruitment Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@42eca56e Item: Title: Exome sequencing, data analysis, and interpretation Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@52f759d7 Item: Title: RESULTS Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7cbd213e Children: Item: Title: Demographics of 1001 patients with suspected genetic muscle disease Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@192d3247 Item: Title: Initial screening detected suspected pathogenic variants in 47% of participants Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@3ecd23d9 Item: Title: Frequency of NMD genes varied greatly in our cohort Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@569cfc36 Item: Title: Homozygous variants associated with established autosomal dominant inheritance Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@43bd930a Item: Title: Solved rate differed with geographical location of the participating center Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@33723e30 Item: Title: Analysis of an extended gene list increased the diagnostic yield to 49% Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@64f6106c Item: Title: Expanding exome sequencing beyond single base pair changes and small indels increased the detection yield by a further 3% Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@553a3d88 Item: Title: Over 400 novel suspected pathogenic variants were identified Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7a30d1e6 Item: Title: Single heterozygous pathogenic variants in the most common recessive genes account for 2.5% of the unsolved cases Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@5891e32e Item: Title: Many patients harbored suspected pathogenic variants in genes associated with treatable or manageable conditions Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@cb0ed20 Item: Title: DISCUSSION Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@8e24743 Item: Title: Supplementary information Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@74a10858 Item: Title: ACKNOWLEDGMENTS Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@23fe1d71 Item: Title: DISCLOSURE Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@28ac3dc3 Item: Title: References Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@32eebfca Info: Title: Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness Author: Ana Töpf Subject: GENETICS in MEDICINE, doi:10.1038/s41436-020-0840-3 Keywords: next-generation 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doi:10.1038/s41436-020-0840-3 Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness Ana Töpf Katherine Johnson Adam Bates Lauren Phillips Katherine R. Chao Eleina M. England Kristen M. Laricchia Thomas Mullen Elise Valkanas Liwen Xu Marta Bertoli Alison Blain Ana B. Casasús Jennifer Duff Magdalena Mroczek Sabine Specht Monkol Lek Monica Ensini Daniel G. MacArthur Ela Akay Jorge Alonso-Pérez Jonathan Baets Nina Barisic Alexandra Bastian Sabine Borell Teodora Chamova Kristl Claeys Jaume Colomer Sandra Coppens Nicolas Deconinck Willem de Ridder Jordi Díaz-Manera Cristina Domínguez-González Alexis Duncan Hacer Durmus Nagia A. Fahmy Maria Elena Farrugia Roberto Fernández-Torrón Lidia Gonzalez-Quereda Jana Haberlova Maja von der Hagen Andreas Hahn Antonia Jakovčević Ivonne Jerico Pascual Solange Kapetanovic Viktorija Kenina Janbernd Kirschner Andrea Klein Heike Kölbel Anna Kostera-Pruszczyk Richa Kulshrestha Jaana Lähdetie Mahsa Layegh Cheryl Longman Adolfo López de Munain Wolfgang Loscher Anna Lusakowska Paul Maddison Armelle Magot Anirban Majumdar Pilar Martí Amaia Martínez Arroyo Radim Mazanec Sandra Mercier Tiziana Mongini Nuria Muelas Andrés Nascimento Shahriar Nafissi Shirin Omidi Carlos Ortez Stéphanie Paquay Yann Pereon Stojan Perić Valentina Ponzalino Vidosava Rakočević Stojanović Gauthier Remiche Aida Rodríguez Sainz Sabine Rudnik Iciar Sanchez Albisua Manuela Santos Ulrike Schara Andriy Shatillo Jadranka Sertić Ulrich Stephani Sonja Strang-Karlsson Yves Sznajer Ani Tanev Ivailo Tournev Peter Van den Bergh Vinciane Van Parijs Juan Vílchez Katharina Vill John Vissing Carina Wallgren-Pettersson Julia Wanschitz Tracey Willis Nanna Witting Miren Zulaica Volker Straub Springer US next-generation sequencing targeted exome analysis neuromuscular disease limb-girdle weakness genetic diagnosis GENETICS in MEDICINE, doi:10.1038/s41436-020-0840-3 10.1038/s41436-020-0840-3 http://dx.doi.org/10.1038/s41436-020-0840-3 journal GENETICS in MEDICINE © 2020, The Author(s) 1530-0366 10.1038/s41436-020-0840-3 springer.com springerlink.com 2010-04-23 True 10.1038/s41436-020-0840-3 springer.com springerlink.com Springer 2020-08-19T12:06:45+05:30 2020-08-19T12:05:36+05:30 2020-08-19T12:06:45+05:30 True next-generation sequencing; targeted exome analysis; neuromuscular disease; limb-girdle weakness; genetic diagnosis VoR uuid:684b87d4-4e70-4c40-b29d-25e37c5d4ef3 uuid:fea431c7-0858-4306-a7ce-48338723ecf5 default 1 converted uuid:cfafabec-81b0-4a2a-8a4a-6b3e6938e08c converted to PDF/A-2b pdfToolbox 2020-08-19T12:06:45+05:30 2 B Ana Töpf http://orcid.org/0000-0002-9227-2526 http://ns.adobe.com/pdf/1.3/ pdf Adobe PDF Schema internal A name object indicating whether the document has been modified to include trapping information Trapped Text http://ns.adobe.com/pdfx/1.3/ pdfx pdfx internal ID of PDF/X standard GTS_PDFXVersion Text internal Conformance level of PDF/X standard GTS_PDFXConformance Text internal Company creating the PDF Company Text internal Date when document was last modified SourceModified Text external Mirrors crossmark:CrosMarkDomains CrossMarkDomains Seq Text internal Mirrors crossmark:DOI doi Text http://ns.adobe.com/xap/1.0/mm/ xmpMM XMP Media Management Schema internal UUID based identifier for specific incarnation of a document InstanceID URI internal The common identifier for all versions and renditions of a document. 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PRISM recommends that a subset of the PCV platform values, namely “mobile” and “web”, be used in conjunction with this element. NOTE: PRISM recommends against the use of the #other value allowed in the PRISM Platform controlled vocabulary. In lieu of using #other please reach out to the PRISM group at prism-wg@yahoogroups.com to request addition of your term to the Platform Controlled Vocabulary. url Text http://springernature.com/ns/xmpExtensions/2.0/ sn Springer Nature ORCID Schema external Author information: contains the name of each author and his/her ORCID (ORCiD: Open Researcher and Contributor ID). 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