Andrés Moreno-De-Luca

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Erin B. Kaminsky, Vineith Kaul, Justin Paschall et al. · Genetics in Medicine · 2011 · 444 citations · Full text

Intellectual Impairment, Psychiatry, Genetic Disorder +6

The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population

Ellen Hanson, Raphael Bernier, Ken Porche et al. · Biological Psychiatry · 2014 · 286 citations

Neuropsychological Functioning, Cognitive Performance, Brain Function +6

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

Andrés Moreno-De-Luca, S. L. Helmers, Hui Mao et al. · Journal of Medical Genetics · 2010 · 181 citations · Full text

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Sheng Chih Jin, Weilai Dong, Adam J. Kundishora et al. · Nature Medicine · 2020 · 154 citations · Full text

Neuro-oncology, Developmental Biology, Ependyma +15

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

Andrea J. Gonzalez-Mantilla, Andrés Moreno-De-Luca, David H. Ledbetter et al. · JAMA Psychiatry · 2016 · 149 citations · Full text