Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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

Science Translational Medicine

Approach to the diagnosis of congenital myopathies

Kathryn N. North, Ching H. Wang, Nigel F. Clarke, +9

Neuromuscular Disorders

De novo <i>LMNA</i> mutations cause a new form of congenital muscular dystrophy

Susana Quijano‐Roy, Blaise Mbieleu, Carsten G. Bönnemann, +21

Annals of Neurology

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari, +52

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsFrequent CausePathology +2

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

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

Emily C. Oates, Alexander M. Rossor, Majid Hafezparast, +23

The American Journal of Human Genetics

Rare DiseasesMendelian DisorderGenetic DisorderMedicineGenetics +6

Consensus Statement on Standard of Care for Congenital Myopathies

Ching H. Wang, James J. Dowling, Kathryn N. North, +31

Journal of Child Neurology

Neuromusculoskeletal DisorderRare DiseasesPediatric Orthopedic SurgeryMendelian DisorderCare Committee +9

<i>SEPN1</i>: Associated with congenital fiber‐type disproportion and insulin resistance

Nigel F. Clarke, Warren Kidson, Susana Quijano‐Roy, +7

Annals of 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