Review
Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene
Sivasankar Malaichamy
K. Polavarapu
Rachel Thompson
Romane Idoux
S. Spendiff
V. Karcagi
Á. Herczegfalvi
M. Almomen
R. Scola
P. Lorenzoni
E. Zanoteli
A. Zambon
C. Camelo
Eduardo de Paula Estephan
Thenral S. Geetha
V. Ramprasad
S. Vengalil
S. Nashi
Muddassu Keerthipriya
Dipti Baskar
V. Preethish-Kumar
A. Kotambail
D. Muhmann
U. Schara-Schmidt
S. Laurie
L. Matalonga
S. Beltran
Andreas Roos
I. Barić
A. Nalini
H. Lochmüller
Medicine