Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation

Shwachman-Diamond syndrome (SDS) in a preterm neonate

(2015) Maria Saito-Benz et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Kelch proteins: emerging roles in skeletal muscle development and diseases

(2014) Vandana A Gupta et al.   Skeletal Muscle

Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome

(2013) Heidi Schaballie et al.   EUROPEAN JOURNAL OF PEDIATRICS

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

(2012) Steven J Keogh et al.   BMC Pediatrics

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

(2011) A. J. Finch et al.   GENES & DEVELOPMENT

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS