These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. Antoniadi T; Buxton C; Dennis G; Forrester N; Smith D; Lunt P; Burton-Jones S BMC Med Genet; 2015 Sep; 16():84. PubMed ID: 26392352 [TBL] [Abstract][Full Text] [Related]
3. Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. Lupo V; García-García F; Sancho P; Tello C; García-Romero M; Villarreal L; Alberti A; Sivera R; Dopazo J; Pascual-Pascual SI; Márquez-Infante C; Casasnovas C; Sevilla T; Espinós C J Mol Diagn; 2016 Mar; 18(2):225-34. PubMed ID: 26752306 [TBL] [Abstract][Full Text] [Related]
4. Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing. Nam SH; Hong YB; Hyun YS; Nam da E; Kwak G; Hwang SH; Choi BO; Chung KW Mol Cells; 2016 May; 39(5):382-8. PubMed ID: 27025386 [TBL] [Abstract][Full Text] [Related]
5. Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. Hartley T; Wagner JD; Warman-Chardon J; Tétreault M; Brady L; Baker S; Tarnopolsky M; Bourque PR; Parboosingh JS; Smith C; McInnes B; Innes AM; Bernier F; Curry CJ; Yoon G; Horvath GA; Bareke E; Gillespie M; ; ; Majewski J; Bulman DE; Dyment DA; Boycott KM Clin Genet; 2018 Feb; 93(2):301-309. PubMed ID: 28708278 [TBL] [Abstract][Full Text] [Related]