Tiziano Pramparo
Therapeutics Clinical Research(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genomics and Rare Diseases
Most-Cited Works
- → Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice(2001)1,039 cited
- → Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases(2017)571 cited
- → Altered proliferation and networks in neural cells derived from idiopathic autistic individuals(2016)492 cited
- → Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients(2007)355 cited
- → The ASD Living Biology: from cell proliferation to clinical phenotype(2018)328 cited
- → Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network(2017)279 cited
- → Neuroepithelial Stem Cell Proliferation Requires LIS1 for Precise Spindle Orientation and Symmetric Division(2008)267 cited
- → Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome(2005)214 cited
- → Age-Dependent Brain Gene Expression and Copy Number Anomalies in Autism Suggest Distinct Pathological Processes at Young Versus Mature Ages(2012)204 cited
- → Maternal immune activation dysregulation of the fetal brain transcriptome and relevance to the pathophysiology of autism spectrum disorder(2017)194 cited