Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger, +86

New England Journal of Medicine

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli, +259

Genetics in Medicine

MedicineGeneticsRna SplicingPutative Splicing VariantsPathology +9

SpliceVault predicts the precise nature of variant-associated mis-splicing

Ruebena Dawes, Adam Bournazos, Samantha J. Bryen, +4

Nature Genetics

Recurrent <i>TTN</i> metatranscript‐only c.39974–11T&gt;G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Samantha J. Bryen, Lisa Ewans, Jason Pinner, +32

Human Mutation

Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly

Samantha J. Bryen, Himanshu Joshi, Frances J. Evesson, +13

The American Journal of Human Genetics

Intronic DeletionsSpliceosome AssemblyGeneticsRna SplicingMolecular Biology +5

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, A. Santini, +254

Nature Genetics

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

Lisa G. Riley, Leigh B. Waddell, Roula Ghaoui, +10

European Journal of Human Genetics

CardiomyopathyIntronic Splice VariantMissense L190p-desminGeneticsRecessive Des Cardio/myopathy +3

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

Magdalena Mroczek, Hacer Durmuş, Sunita Bijarnia‐Mahay, +8

Neuromuscular Disorders

Disease PhenotypeAllergyAutoimmune DiseaseDisease MechanismPathology +7

Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants

Hannah Jones, Samantha J. Bryen, Leigh B. Waddell, +10

Neuromuscular Disorders

Dmd MissenseMuscle BiopsyMendelian DisorderMedicineGenetics +8

Genome and <scp>RNA</scp> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, +27

Annals of Clinical and Translational Neurology