NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay, Am J Med Genet A, vol.161, issue.2, pp.377-381, 2013. ,
The aberrant behavior checklist: a behavior rating scale for the assessment of treatment effects, Am J Ment Defic, vol.89, issue.5, pp.485-491, 1985. ,
, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. Cold Spring Harb Mol Case Stud, American Psychiatric Association, issue.6, p.3, 2000.
, The Neurology of Eye Movements, pp.188-240, 2006.
Coup d'Etat: an orphan takes control, Endocrine reviews, vol.32, issue.3, pp.404-421, 2011. ,
Autism diagnostic observation schedule, ADOS-2) modules 1-4. Los Angels, 2012. ,
Impaired inhibitory control is associated with higher-order repetitive behaviors in autism spectrum disorders, Psychological Medicine, vol.39, issue.9, pp.1559-1566, 2009. ,
Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome, Ophthalmic Genetics, pp.1-3, 2019. ,
Trail making test manual for administration and scoring, 1992. ,
, Los Angeles: Western Psychological Services, 2003.
Autism Diagnostic Interview, Revised (ADI-R), 2003. ,
Inhibitory control processes and the strategies that support them during hand and eye movements, Frontiers in Psychology, vol.7, 1927. ,
Why do autistic individuals show superior performance on the block design task, Journal of Child Psychology and Psychiatry, vol.34, issue.8, pp.1351-1364, 1993. ,
, Vineland adaptive behavior scales, 2005.
COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis, Development, vol.137, issue.5, pp.725-734, 2010. ,
Area-specific temporal control of corticospinal motor neuron differentiation by COUP-TFI, Proc Natl Acad Sci U S A, vol.107, issue.8, pp.3576-3581, 2010. ,
Grooved pegboard test: Royal Ottawa Hospital, 1989. ,
Wechsler abbreviated scale of intelligence, 1999. ,
WAIS-IV: Wechsler adult intelligence scale, 2008. ,
The Nuclear Orphan Receptor COUP-TFI Is Required for Differentiation of Subplate Neurons and Guidance of Thalamocortical Axons, Neuron, vol.24, pp.81032-81038, 1999. ,