The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

(2015) S. Dimassi et al.   CLINICAL GENETICS

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome

(2015) Naomi Hino-Fukuyo et al.   HUMAN GENETICS

The Effect of an Alternate Start Codon on Heterologous Expression of a PhoA Fusion Protein in Mycoplasma gallisepticum

(2015) Indu S. Panicker et al.   PLoS One

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

(2014) Daniëlle G.M. Bosch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The genetic landscape of infantile spasms

(2014) Jacques L. Michaud et al.   HUMAN MOLECULAR GENETICS

Postmitotic control of sensory area specification during neocortical development

(2014) C. Alfano et al.   Nature Communications

NR2F1haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay

(2013) Hussam Al-Kateb et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Coup d'Etat: An Orphan Takes Control

(2011) Fu-Jung Lin et al.   ENDOCRINE REVIEWS

COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis

(2010) K. Tang et al.   DEVELOPMENT

NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness

(2009) Kerry K. Brown et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Spatial Patterning of Mouse Cone Opsin Expression Is Regulated by Bone Morphogenetic Protein Signaling through Downstream Effector COUP-TF Nuclear Receptors

(2009) S. Satoh et al.   JOURNAL OF NEUROSCIENCE