Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing.
School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Sydney, New South Wales, Australia.|Department of Pediatric Neurology, Sydney Children's Hospital, Randwick, New South Wales, Australia.
Hooi Ling
HL
Teoh
School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Sydney, New South Wales, Australia.|Department of Pediatric Neurology, Sydney Children's Hospital, Randwick, New South Wales, Australia.
Hugo
H
Sampaio
Department of Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.|Kinghorn Centre for Clinical Genomics, Darlinghurst, New South Wales, Australia.|St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.
Tony
T
Roscioli
School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Sydney, New South Wales, Australia.|Department of Pediatric Neurology, Sydney Children's Hospital, Randwick, New South Wales, Australia.
Michelle
M
Farrar
D005820:Genetic Testing; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D008969:Molecular Sequence Data; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D000073359:Exome Sequencing
GENETICS; NEUROMUSCULAR