NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder

Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient

(2017) Keiko Shimojima et al.   CONGENITAL ANOMALIES

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

(2016) Virpi M. Leppa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nurr1-Based Therapies for Parkinson's Disease

(2016) Jie Dong et al.   CNS Neuroscience & Therapeutics

Nuclear receptor 4A (NR4A) family – orphans no more

(2016) Stephen Safe et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

(2016) Claire Redin et al.   NATURE GENETICS

Intellectual Disability and HemizygousGPD2Mutation

(2013) Daniela Q.C.M. Barge-Schaapveld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Estimates of penetrance for recurrent pathogenic copy-number variations

(2012) Jill A. Rosenfeld et al.   GENETICS IN MEDICINE

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation

(2008) Hussein Daoud et al.   HUMAN GENETICS