Literature DB >> 28277145

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives.

Maja Tarailo-Graovac1,2, Wyeth W Wasserman2, Clara D M Van Karnebeek3,4.   

Abstract

Entities:  

Keywords:  Central nervous system; diagnosis; exome/genome sequencing; inborn errors of metabolism; precision medicine

Mesh：

Year:  2017        PMID： 28277145     DOI： 10.1080/14737159.2017.1293527

Source DB:  PubMed          Journal:  Expert Rev Mol Diagn        ISSN： 1473-7159            Impact factor:   5.225


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  7 in total

1.  The role of the clinician in the multi-omics era: are you ready?

Authors:  Clara D M van Karnebeek; Saskia B Wortmann; Maja Tarailo-Graovac; Mirjam Langeveld; Carlos R Ferreira; Jiddeke M van de Kamp; Carla E Hollak; Wyeth W Wasserman; Hans R Waterham; Ron A Wevers; Tobias B Haack; Ronald J A Wanders; Kym M Boycott
Journal:  J Inherit Metab Dis       Date:  2018-01-23       Impact factor: 4.982

2.  Identification of human D lactate dehydrogenase deficiency.

Authors:  Glen R Monroe; Albertien M van Eerde; Federico Tessadori; Karen J Duran; Sanne M C Savelberg; Johanna C van Alfen; Paulien A Terhal; Saskia N van der Crabben; Klaske D Lichtenbelt; Sabine A Fuchs; Johan Gerrits; Markus J van Roosmalen; Koen L van Gassen; Mirjam van Aalderen; Bart G Koot; Marlies Oostendorp; Marinus Duran; Gepke Visser; Tom J de Koning; Francesco Calì; Paolo Bosco; Karin Geleijns; Monique G M de Sain-van der Velden; Nine V Knoers; Jeroen Bakkers; Nanda M Verhoeven-Duif; Gijs van Haaften; Judith J Jans
Journal:  Nat Commun       Date:  2019-04-01       Impact factor: 14.919

Review 3.  Uncovering Missing Heritability in Rare Diseases.

Authors:  Tatiana Maroilley; Maja Tarailo-Graovac
Journal:  Genes (Basel)       Date:  2019-04-04       Impact factor: 4.096

4.  De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.

Authors:  Maja Tarailo-Graovac; Farah R Zahir; Irena Zivkovic; Michelle Moksa; Kathryn Selby; Sunita Sinha; Corey Nislow; Sylvia G Stockler-Ipsiroglu; Ruth Sheffer; Ann Saada-Reisch; Jan M Friedman; Clara D M van Karnebeek; Gabriella A Horvath
Journal:  Mol Genet Genomic Med       Date:  2019-09-01       Impact factor: 2.183

Review 5.  Genetic Modifiers and Rare Mendelian Disease.

Authors:  K M Tahsin Hassan Rahit; Maja Tarailo-Graovac
Journal:  Genes (Basel)       Date:  2020-02-25       Impact factor: 4.096

Review 6.  The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

Authors:  Julian Delanne; Ange-Line Bruel; Frédéric Huet; Sébastien Moutton; Sophie Nambot; Margot Grisval; Nada Houcinat; Paul Kuentz; Arthur Sorlin; Patrick Callier; Nolwenn Jean-Marcais; Anne-Laure Mosca-Boidron; Frédéric Tran Mau-Them; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Daphné Lehalle; Salima El Chehadeh; Christine Francannet; Marine Lebrun; Laetitia Lambert; Marie-Line Jacquemont; Marion Gerard-Blanluet; Jean-Luc Alessandri; Marjolaine Willems; Julien Thevenon; Mondher Chouchane; Véronique Darmency; Clémence Fatus-Fauconnier; Sébastien Gay; Marie Bournez; Alice Masurel; Vanessa Leguy; Yannis Duffourd; Christophe Philippe; François Feillet; Laurence Faivre; Christel Thauvin-Robinet
Journal:  Mol Genet Metab Rep       Date:  2021-10-18

Review 7.  Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders.

Authors:  Marjan Shakiba; Mohammad Keramatipour
Journal:  Iran J Child Neurol       Date:  2018
  7 in total

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