Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Tony Roscioli

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay

American Journal of Human Genetics

English

Genome-Wide Profiling of P63 DNA–Binding Sites Identifies an Element That Regulates Gene Expression During Limb Development in the 7q21 SHFM1 Locus

Molecular Biology

Cancer Research

English

Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy

Neural Plasticity

English

Indications and Outcomes of Rapid Turn Around Time Whole Exome Sequencing Studies

Forensic Medicine

English

Generalized Arterial Calcification of Infancy: Treatment With Bisphosphonates

Nature Reviews Endocrinology

English

Related publications

Spatial Organization and Signal Transduction at Intercellular Junctions

Nature Reviews Molecular Cell Biology

Molecular Biology

English

Talins and Kindlins: Partners in Integrin-Mediated Adhesion

Nature Reviews Molecular Cell Biology

Molecular Biology

English

Molecular Control of Endothelial Cell Behaviour During Blood Vessel Morphogenesis

Nature Reviews Molecular Cell Biology

Molecular Biology

English

Multidimensional Proteomics for Cell Biology

Nature Reviews Molecular Cell Biology

Molecular Biology

English

DNA Methylation Pathways and Their Crosstalk With Histone Methylation

Nature Reviews Molecular Cell Biology

Molecular Biology

English

Transcriptional Integration of Metabolism by the Nuclear Sterol-Activated Receptors LXR and FXR

Nature Reviews Molecular Cell Biology

Molecular Biology

English

Tail-Anchored Membrane Protein Insertion Into the Endoplasmic Reticulum

Nature Reviews Molecular Cell Biology

Molecular Biology

English

Dynamin, a Membrane-Remodelling GTPase

Nature Reviews Molecular Cell Biology

Molecular Biology

English

Regulating the Regulator: Post-Translational Modification of RAS

Nature Reviews Molecular Cell Biology

Molecular Biology

English

Trithorax Group Proteins: Switching Genes on and Keeping Them Active

Nature Reviews Molecular Cell Biology

Molecular Biology

English