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Flavio Faletra | doi.page

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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

→ Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection(2013)

46 cited

→ Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families(2020)46 cited

→ Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C(2020)43 cited

→ A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss(2013)40 cited