Giorgia Mandrile

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Mircea Cretu Stancu, Markus J. van Roosmalen, Ivo Renkens et al. · Nature Communications · 2017 · 427 citations · Full text

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment

Pierre Cochat, Sally A. Hulton, Cécile Acquaviva et al. · Nephrology Dialysis Transplantation · 2012 · 330 citations · Full text

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Ryan L. Collins, Harrison Brand, Claire Redin et al. · Genome biology · 2017 · 229 citations · Full text

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

Chiara Fallerini, Laura Dosa, Rossella Tita et al. · Clinical Genetics · 2013 · 140 citations

Relevant Fraction, Next Generation, Mendelian Disorder +14