Concepedia
Statistics
Publications
35
Citations
2.6K
H-Index
23
Active since
2007
Affiliations
University of Turin(Current)
Ospedale San Luigi Gonzaga
Azienda Ospedaliera Citta' della Salute e della Scienza di Torino
Department of Medical Sciences
Broad Institute
Giorgia Mandrile is an author at University of Turin specializing in genetics, life sciences, and molecular genetics.
Publications per year
2007–2024
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 · 440 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 354 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
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 · 335 citations · Full text
Medicine, Biochemistry, Nephrology +17
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 · 235 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 · 145 citations
Life Sciences, Genetics, Molecular Genetics +13
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