Mutations inSNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

(2014) Danielle C. Lynch et al.   Nature Communications

Single strand DNA binding proteins 1 and 2 protect newly replicated telomeres

(2013) Peili Gu et al.   CELL RESEARCH

Nager syndrome: confirmation ofSF3B4haploinsufficiency as the major cause

(2013) F. Petit et al.   CLINICAL GENETICS

Essential Developmental, Genomic Stability, and Tumour Suppressor Functions of the Mouse Orthologue of hSSB1/NABP2

(2013) Wei Shi et al.   PLoS Genetics

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

(2012) Matthew A. Lines et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

(2012) Francois P. Bernier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ThehSSB1orthologueObfc2bis essential for skeletogenesis but dispensable for the DNA damage responsein vivo

(2012) Niklas Feldhahn et al.   EMBO JOURNAL

Pre-mRNA splicing in disease and therapeutics

(2012) Ravi K. Singh et al.   TRENDS IN MOLECULAR MEDICINE

Regulation of alternative splicing by the core spliceosomal machinery

(2011) A. L. Saltzman et al.   GENES & DEVELOPMENT

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

(2011) P. Edery et al.   SCIENCE

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

(2011) H. He et al.   SCIENCE

Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome

(2010) Pen-Hua Su et al.   CLINICAL DYSMORPHOLOGY

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1

(2008) R. Zeevaert et al.   HUMAN MOLECULAR GENETICS

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

(2008) Qun Pan et al.   NATURE GENETICS