Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus

(2016) Hiroyuki Takai et al.   GENES & DEVELOPMENT

Identification of a novel MKS locus defined byTMEM107mutation

(2015) Ranad Shaheen et al.   HUMAN MOLECULAR GENETICS

Noncoding RNAs in eukaryotic ribosome biogenesis and function

(2015) Denis L J Lafontaine   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Noncoding RNAs in eukaryotic ribosome biogenesis and function

(2015) Denis L J Lafontaine   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus

(2014) Josephine Mayer et al.   NEUROPEDIATRICS

Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

(2012) Anne Polvi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling

(2012) Kasey J. Christopher et al.   DEVELOPMENTAL BIOLOGY

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

(2012) Beverley H Anderson et al.   NATURE GENETICS

Specialized ribosomes: a new frontier in gene regulation and organismal biology

(2012) Shifeng Xue et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The box C/D and H/ACA snoRNPs: key players in the modification, processing and the dynamic folding of ribosomal RNA

(2011) Nicholas J. Watkins et al.   Wiley Interdisciplinary Reviews-RNA

When ribosomes go bad: diseases of ribosome biogenesis

(2010) Emily F. Freed et al.   Molecular BioSystems