Gain-of-Function Mutations inRARBCause Intellectual Disability with Progressive Motor Impairment

Retinoic Acid Receptor   Controls Development of Striatonigral Projection Neurons through FGF-Dependent and Meis1-Dependent Mechanisms

(2015) M. Rataj-Baniowska et al.   JOURNAL OF NEUROSCIENCE

Mechanisms of retinoic acid signalling and its roles in organ and limb development

(2015) Thomas J. Cunningham et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes

(2014) Yannis J Trakadis et al.   BMC Medical Genomics

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum

(2014) Radhika Dhamija et al.   European Journal of Medical Genetics

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

(2013) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Chiari Malformation Type I: A Case-Control Association Study of 58 Developmental Genes

(2013) Aintzane Urbizu et al.   PLoS One

A paradoxical teratogenic mechanism for retinoic acid

(2012) L. M. Y. Lee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

(2011) Kathrin Laue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Basal Ganglia Disorders Associated with Imbalances in the Striatal Striosome and Matrix Compartments

(2011) Jill R. Crittenden et al.   Frontiers in Neuroanatomy

Retinoic Acid Functions as a Key GABAergic Differentiation Signal in the Basal Ganglia

(2011) Christina Chatzi et al.   PLOS BIOLOGY

Retinoic Acid Enhances Osteogenesis in Cranial Suture–Derived Mesenchymal Cells: Potential Mechanisms of Retinoid-Induced Craniosynostosis

(2010) Aaron W. James et al.   PLASTIC AND RECONSTRUCTIVE SURGERY

Genetic disruption of CYP26B1 severely affects development of neural crest derived head structures, but does not compromise hindbrain patterning

(2009) Glenn Maclean et al.   DEVELOPMENTAL DYNAMICS

Modular patterning of structure and function of the striatum by retinoid receptor signaling

(2008) W.-L. Liao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA