TY  - JOUR
AU  - Beecroft, Sarah J
AU  - Yau, Kyle S
AU  - Allcock, Richard J N
AU  - Mina, Kym
AU  - Gooding, Rebecca
AU  - Faiz, Fathimath
AU  - Atkinson, Vanessa J
AU  - Wise, Cheryl
AU  - Sivadorai, Padma
AU  - Trajanoski, Daniel
AU  - Kresoje, Nina
AU  - Ong, Royston
AU  - Duff, Rachael M
AU  - Cabrera-Serrano, Macarena
AU  - Nowak, Kristen J
AU  - Pachter, Nicholas
AU  - Ravenscroft, Gianina
AU  - Lamont, Phillipa J
AU  - Davis, Mark R
AU  - Laing, Nigel G
PY  - 2020
DO  - 10.1002/acn3.51002
UR  - http://hdl.handle.net/10668/15220
T2  - Annals of clinical and translational neurology
AB  - To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center. We designed two iterations of a comprehensive targeted gene panel for neuromuscular disorders. Version 1 included 336 genes, which was...
LA  - en
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Aged, 80 and over
KW  - Australia
KW  - Child
KW  - Child, Preschool
KW  - Cohort Studies
KW  - Female
KW  - Genetic Testing
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Infant
KW  - Male
KW  - Middle Aged
KW  - Neuromuscular Diseases
KW  - New Zealand
KW  - Referral and Consultation
KW  - Young Adult
TI  - Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
TY  - research article
VL  - 7
ER  -