De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis

Rap1b Is an Effector of Axin2 Regulating Crosstalk of Signaling Pathways During Skeletal Development

(2017) Takamitsu Maruyama et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Smurf1 Inhibits Osteoblast Differentiation, Bone Formation, and Glucose Homeostasis through Serine 148

(2016) Junko Shimazu et al.   Cell Reports

Mitochondrial dysfunction remodels one-carbon metabolism in human cells

(2016) Xiaoyan Robert Bao et al.   eLife

Understanding craniosynostosis as a growth disorder

(2016) Kevin Flaherty et al.   Wiley Interdisciplinary Reviews-Developmental Biology

A Genetic-Pathophysiological Framework for Craniosynostosis

(2015) Stephen R.F. Twigg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BMP gradients: A paradigm for morphogen-mediated developmental patterning

(2015) E. Bier et al.   SCIENCE

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

(2015) J. Homsy et al.   SCIENCE

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

A Bayesian framework for de novo mutation calling in parents-offspring trios

(2014) Qiang Wei et al.   BIOINFORMATICS

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Hand in glove: brain and skull in development and dysmorphogenesis

(2013) Joan T. Richtsmeier et al.   ACTA NEUROPATHOLOGICA

Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis

(2013) Jaclyn Greenwood et al.   GENETICS IN MEDICINE

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

(2013) Stephen R F Twigg et al.   NATURE GENETICS

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

(2013) Vikram P Sharma et al.   NATURE GENETICS

Absence of Endochondral Ossification and Craniosynostosis in Posterior Frontal Cranial Sutures of Axin2−/− Mice

(2013) Björn Behr et al.   PLoS One

Wnt Signaling through Inhibition of β-Catenin Degradation in an Intact Axin1 Complex

(2012) Vivian S.W. Li et al.   CELL

Augmentation of smad-dependent BMP signaling in neural crest cells causes craniosynostosis in mice

(2012) Yoshihiro Komatsu et al.   JOURNAL OF BONE AND MINERAL RESEARCH

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

(2012) Cristina M Justice et al.   NATURE GENETICS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros

(2011) Céline Burcklé et al.   HUMAN MOLECULAR GENETICS

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Differential activation of canonical Wnt signaling determines cranial sutures fate: A novel mechanism for sagittal suture craniosynostosis

(2010) Björn Behr et al.   DEVELOPMENTAL BIOLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Wnt/β-Catenin Signaling: Components, Mechanisms, and Diseases

(2009) Bryan T. MacDonald et al.   DEVELOPMENTAL CELL

Emerging roles of Wnts in the adult nervous system

(2009) Nibaldo C. Inestrosa et al.   NATURE REVIEWS NEUROSCIENCE

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

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

Cranial Sutures: A Brief Review

(2009) Bethany J. Slater et al.   PLASTIC AND RECONSTRUCTIVE SURGERY

MesP1 drives vertebrate cardiovascular differentiation through Dkk-1-mediated blockade of Wnt-signalling

(2008) R. David et al.   NATURE CELL BIOLOGY