Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen, +35

Science Translational Medicine

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Keren Carss, Elizabeth Stevens, A. Reghan Foley, +32

The American Journal of Human Genetics

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Michaela Yuen, Sarah A. Sandaradura, James J. Dowling, +54

Journal of Clinical Investigation

MechanobiologyThin FilamentsSystems BiologyDevelopmental BiologyEngineering +13

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy

Roula Ghaoui, Sandra T. Cooper, Monkol Lek, +16

JAMA Neurology

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

Nigel F. Clarke, Leigh B. Waddell, Sandra T. Cooper, +14

Human Mutation

Developmental AnomalyType 1Mendelian DisorderOphthalmologyGenetic Disorder +11

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi Jones, Sandra Donkervoort, +81

Annals of Neurology

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen, +35

GeneticsPathologyDisease Gene IdentificationGenomicsSplicing Variant +14

Mutations in <i>HSPB8</i> causing a new phenotype of distal myopathy and motor neuropathy

Roula Ghaoui, Johanna Palmio, Janice Brewer, +18

Neurology

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Gina O’Grady, Heather Best, Tamar E. Sztal, +38

The American Journal of Human Genetics

Internalized NucleiMyofibrillar DisorganizationBiochemistryNatural SciencesPhysiology +1

Mutations in<i>PIGY</i>: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Biljana Ilkovski, Alistair T. Pagnamenta, Gina O’Grady, +21

Human Molecular Genetics