Literature DB >> 28482373

The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies.

Wolfram Kress1, Simone Rost1, Konstantin Kolokotronis1, Gerhard Meng1, Natalie Pluta1, Clemens Müller-Reible1.   

Abstract

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Year:  2017        PMID： 28482373     DOI： 10.1055/s-0037-1602660

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


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  6 in total

1.  Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.

Authors:  Pablo Brea Winckler; Bruna Cristine Chwal; Marco Antonnio Rocha Dos Santos; Daniela Burguêz; Marcia Polese-Bonatto; Edmar Zanoteli; Marina Siebert; Filippo Pinto E Vairo; Márcia Lorena Fagundes Chaves; Jonas Alex Morales Saute
Journal:  Neurol Sci       Date:  2022-02-17       Impact factor: 3.307

Review 2.  [Application of RNA sequencing in clinical diagnosis of Mendelian disease].

Authors:  Hui Xiao; Wen-Hao Zhou
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2020-10

Review 3.  Congenital myopathies: clinical phenotypes and new diagnostic tools.

Authors:  Denise Cassandrini; Rosanna Trovato; Anna Rubegni; Sara Lenzi; Chiara Fiorillo; Jacopo Baldacci; Carlo Minetti; Guja Astrea; Claudio Bruno; Filippo M Santorelli
Journal:  Ital J Pediatr       Date:  2017-11-15       Impact factor: 2.638

4.  Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Authors:  Hernan D Gonorazky; Sergey Naumenko; Arun K Ramani; Viswateja Nelakuditi; Pouria Mashouri; Peiqui Wang; Dennis Kao; Krish Ohri; Senthuri Viththiyapaskaran; Mark A Tarnopolsky; Katherine D Mathews; Steven A Moore; Andres N Osorio; David Villanova; Dwi U Kemaladewi; Ronald D Cohn; Michael Brudno; James J Dowling
Journal:  Am J Hum Genet       Date:  2019-02-28       Impact factor: 11.025

5.  Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing.

Authors:  Guanting Lu; Qiongling Peng; Lianying Wu; Jian Zhang; Liya Ma
Journal:  BMC Med Genomics       Date:  2021-11-14       Impact factor: 3.063

6.  Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.

Authors:  Miguel Angel Alcántara-Ortigoza; Miriam Erandi Reyna-Fabián; Ariadna González-Del Angel; Bernardette Estandia-Ortega; Cesárea Bermúdez-López; Gabriela Marisol Cruz-Miranda; Matilde Ruíz-García
Journal:  Genes (Basel)       Date:  2019-10-29       Impact factor: 4.096
  6 in total

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