AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome

Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei

(2020) Shan Jiang et al.   PLoS Genetics

Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency

(2020) Kenichi Kinjo et al.   Scientific Reports

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

(2019) Camille Dion et al.   NUCLEIC ACIDS RESEARCH

PDGF‐B: The missing piece in the mosaic of PDGF family role in craniofacial development

(2019) Debora Corsinovi et al.   DEVELOPMENTAL DYNAMICS

g:Profiler: a web server for functional enrichment analysis and conversions of gene lists (2019 update)

(2019) Uku Raudvere et al.   NUCLEIC ACIDS RESEARCH

Sema3E is required for migration of cranial neural crest cells in zebrafish: Implications for the pathogenesis of CHARGE syndrome

(2019) Zhi‐Zhi Liu et al.   INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY

Random Walk with Restart on Multiplex and Heterogeneous Biological Networks

(2018) Alberto Valdeolivas et al.   BIOINFORMATICS

AKT signaling displays multifaceted functions in neural crest development

(2018) Méghane Sittewelle et al.   DEVELOPMENTAL BIOLOGY

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function

(2018) Alexandra D. Gurzau et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

FSHD type 2 and Bosma arhinia microphthalmia syndrome

(2018) Karlien Mul et al.   NEUROLOGY

Smchd1 regulates long-range chromatin interactions on the inactive X chromosome and at Hox clusters

(2018) Natasha Jansz et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Specification and formation of the neural crest: Perspectives on lineage segregation

(2018) Maneeshi S. Prasad et al.   GENESIS

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

(2017) Christopher T Gordon et al.   NATURE GENETICS

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

(2017) Natalie D Shaw et al.   NATURE GENETICS

Semaphorin-Plexin signaling influences early ventral telencephalic development and thalamocortical axon guidance

(2017) Manuela D. Mitsogiannis et al.   Neural Development

The Epigenetic Regulator SMCHD1 in Development and Disease

(2017) Natasha Jansz et al.   TRENDS IN GENETICS

PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle

(2017) Christopher R. S. Banerji et al.   Nature Communications

PdgfraandPdgfrbgenetically interact during craniofacial development

(2016) Neil McCarthy et al.   DEVELOPMENTAL DYNAMICS

PDGFRβ regulates craniofacial development through homodimers and functional heterodimers with PDGFRα

(2016) Katherine A. Fantauzzo et al.   GENES & DEVELOPMENT

Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation

(2015) Toshiki Takenouchi et al.   JOURNAL OF PEDIATRICS

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

A Proteome-Scale Map of the Human Interactome Network

(2014) Thomas Rolland et al.   CELL

The ubiquitin ligase Nedd4 regulates craniofacial development by promoting cranial neural crest cell survival and stem-cell like properties

(2013) Sophie Wiszniak et al.   DEVELOPMENTAL BIOLOGY

Epigenetic Functions of Smchd1 Repress Gene Clusters on the Inactive X Chromosome and on Autosomes

(2013) Anne-Valerie Gendrel et al.   MOLECULAR AND CELLULAR BIOLOGY

FBXL2- and PTPL1-mediated degradation of p110-free p85β regulatory subunit controls the PI(3)K signalling cascade

(2013) Shafi Kuchay et al.   NATURE CELL BIOLOGY

A new reference implementation of the PSICQUIC web service

(2013) Noemi del-Toro et al.   NUCLEIC ACIDS RESEARCH

Modeling Neural Crest Induction, Melanocyte Specification, and Disease-Related Pigmentation Defects in hESCs and Patient-Specific iPSCs

(2013) Yvonne Mica et al.   Cell Reports

A Critical Role for PDGFRα Signaling in Medial Nasal Process Development

(2013) Fenglei He et al.   PLoS Genetics

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

graphite - a Bioconductor package to convert pathway topology to gene network

(2012) Gabriele Sales et al.   BMC BIOINFORMATICS

PDGFRa mutations in humans with isolated cleft palate

(2012) Sawitree Rattanasopha et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Neural Crest and Olfactory System: New Prospective

(2012) Paolo E. Forni et al.   MOLECULAR NEUROBIOLOGY

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

(2012) Richard J L F Lemmers et al.   NATURE GENETICS

DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy

(2011) Linda N. Geng et al.   DEVELOPMENTAL CELL

Division of labor during trunk neural crest development

(2010) Laura S. Gammill et al.   DEVELOPMENTAL BIOLOGY

CHD7 cooperates with PBAF to control multipotent neural crest formation

(2010) Ruchi Bajpai et al.   NATURE

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

(2010) R. J. L. F. Lemmers et al.   SCIENCE

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

(2010) Lauren Snider et al.   PLoS Genetics

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample

(2009) ML Mostacciuolo et al.   CLINICAL GENETICS

Facioscapulohumeral muscular dystrophy

(2009) George W Padberg et al.   CURRENT OPINION IN NEUROLOGY

Protein tyrosine phosphatase activity in the neural crest is essential for normal heart and skull development

(2009) T. Nakamura et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Contact inhibition of locomotion in vivo controls neural crest directional migration

(2008) Carlos Carmona-Fontaine et al.   NATURE