Flavio Faletra
University of Udine(IT)Ospedale Santa Maria della Misericordia di Udine(IT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Hearing, Cochlea, Tinnitus, Genetics, Congenital heart defects research
Most-Cited Works
- → Type I interferon-mediated autoinflammation due to DNase II deficiency(2017)218 cited
- → Evidence of Inbreeding Depression on Human Height(2012)119 cited
- → SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females(2021)89 cited
- → Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene(2013)80 cited
- → Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype(2015)60 cited
- → A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta(2014)47 cited