Giorgia Mandrile
Ospedale San Luigi Gonzaga(IT)
Publications by Year
Research Areas
Kidney Stones and Urolithiasis Treatments, Biomedical Research and Pathophysiology, Porphyrin Metabolism and Disorders, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases
Most-Cited Works
- → Mapping and phasing of structural variation in patient genomes using nanopore sequencing(2017)436 cited
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment(2012)334 cited
- → Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome(2017)233 cited
- → Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases(2013)142 cited
- → Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope(2023)141 cited
- → Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type(2014)133 cited
- → Prospective Assessment of XPD Lys751Gln and XRCC1 Arg399Gln Single Nucleotide Polymorphisms in Lung Cancer(2007)101 cited
- → Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes(2017)88 cited
- → Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)(2016)59 cited