Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

(2014) Syndia Lazarus et al.   BMC MUSCULOSKELETAL DISORDERS

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

(2013) Aideen M. McInerney-Leo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly

(2013) Jawahir Y. Mohamed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype

(2013) Fatih Bayrakli et al.   BMC GENETICS

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

(2013) Duncan B. Sparrow et al.   HUMAN MOLECULAR GENETICS

Control of Hes7 Expression by Tbx6, the Wnt Pathway and the Chemical Gsk3 Inhibitor LiCl in the Mouse Segmentation Clock

(2013) Aitor González et al.   PLoS One

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

A Mechanism for Gene-Environment Interaction in the Etiology of Congenital Scoliosis

(2012) Duncan B. Sparrow et al.   CELL

RIPPLY3 is a retinoic acid-inducible repressor required for setting the borders of the pre-placodal ectoderm

(2012) A. Janesick et al.   DEVELOPMENT

Vertebrate Segmentation: From Cyclic Gene Networks to Scoliosis

(2011) Olivier Pourquié   CELL

RNA structure and the mechanisms of alternative splicing

(2011) C Joel McManus et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The mouse notches up another success: understanding the causes of human vertebral malformation

(2011) Duncan B. Sparrow et al.   MAMMALIAN GENOME

CREST maps somatic structural variation in cancer genomes with base-pair resolution

(2011) Jianmin Wang et al.   NATURE METHODS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Role of environmental factors in axial skeletal dysmorphogenesis

(2010) Peter G. Alexander et al.   BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS

Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice

(2010) T. Okubo et al.   DEVELOPMENT

Dindel: Accurate indel calls from short-read data

(2010) C. A. Albers et al.   GENOME RESEARCH

Notch inhibition by the ligand Delta-Like 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis

(2010) Gavin Chapman et al.   HUMAN MOLECULAR GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies

(2009) M. Ye et al.   HUMAN MOLECULAR GENETICS

The Xenopus Bowline/Ripply family proteins negatively regulate the transcriptional activity of T-box transcription factors

(2009) Keisuke Hitachi et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

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

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

Physical interaction between Tbx6 and mespb is indispensable for the activation of bowline expression during Xenopus somitogenesis

(2008) Keisuke Hitachi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis

(2008) D. B. Sparrow et al.   HUMAN MOLECULAR GENETICS

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

(2008) May Tassabehji et al.   HUMAN MUTATION

Activator-to-Repressor Conversion of T-Box Transcription Factors by the Ripply Family of Groucho/TLE-Associated Mediators

(2008) A. Kawamura et al.   MOLECULAR AND CELLULAR BIOLOGY