Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes...
Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders
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Author / Creator
Buttner, Benjamin , Martin, Sonja , Finck, Anja , Arelin, Maria , Baade-Buttner, Carolin , Bartolomaeus, Tobias , Bauer, Peter , Bertsche, Astrid , Bernhard, Matthias K , Biskup, Saskia , Nataliya Di Donato , Elgizouli, Magdeldin , Ewald, Roland , Heine, Constanze , Hellenbroich, Yorck , Hentschel, Julia , Hoffjan, Sabine , Horn, Susanne , Hornemann, Frauke , Huhle, Dagmar , Kamphausen, Susanne B , Kiess, Wieland , Krey, Ilona , Kuechler, Alma , Liesfeld, Ben , Merkenschlager, Andreas , Mitter, Diana , Muschke, Petra , Pfaffle, Roland , Polster, Tilman , Schanze, Ina , Jan-Ulrich Schlump , Syrbe, Steffen , Wieczorek, Dagmar , Zenker, Martin , Lemke, Johannes R , Diana Le Duc , Platzer, Konrad and Rami Abou Jamra
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
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Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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More information
Scope and Contents
Contents
Background: Deciphering the monogenetic causes of neurodevelopmental disorders (NDD) is an important milestone to offer personalized care. But the plausibility of reported candidate genes in exome studies often remains unclear, which slows down progress in the field. Methods: We performed exome sequencing (ES) in 198 cases of NDD. Cases that remain...
Alternative Titles
Full title
Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders
Authors, Artists and Contributors
Author / Creator
Martin, Sonja
Finck, Anja
Arelin, Maria
Baade-Buttner, Carolin
Bartolomaeus, Tobias
Bauer, Peter
Bertsche, Astrid
Bernhard, Matthias K
Biskup, Saskia
Nataliya Di Donato
Elgizouli, Magdeldin
Ewald, Roland
Heine, Constanze
Hellenbroich, Yorck
Hentschel, Julia
Hoffjan, Sabine
Horn, Susanne
Hornemann, Frauke
Huhle, Dagmar
Kamphausen, Susanne B
Kiess, Wieland
Krey, Ilona
Kuechler, Alma
Liesfeld, Ben
Merkenschlager, Andreas
Mitter, Diana
Muschke, Petra
Pfaffle, Roland
Polster, Tilman
Schanze, Ina
Jan-Ulrich Schlump
Syrbe, Steffen
Wieczorek, Dagmar
Zenker, Martin
Lemke, Johannes R
Diana Le Duc
Platzer, Konrad
Rami Abou Jamra
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2197688278
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2197688278
Other Identifiers
E-ISSN
2692-8205
DOI
10.1101/588517
How to access this item
https://www.proquest.com/docview/2197688278?pq-origsite=primo&accountid=13902
