Pamela Magini

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Manuela De Gregori, Roberto Ciccone, Pamela Magini et al. · Journal of Medical Genetics · 2007 · 354 citations · Full text

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Alberto Magi, Lorenzo Tattini, Ingrid Cifola et al. · Genome biology · 2013 · 238 citations · Full text

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

Tommaso Pippucci, Anna Savoia, Silverio Perrotta et al. · The American Journal of Human Genetics · 2011 · 217 citations · Full text

Thrombopoiesis, Autoimmune Disease, Genetic Disorder +6

Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Tamar Harel, Wan Hee Yoon, Caterina Garone et al. · The American Journal of Human Genetics · 2016 · 186 citations · Full text

Distinct Neurological Syndromes, Neurodegenerative Diseases, Recurrent De Novo +10

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

Alma Kuechler, Alexander M. Zink, Thomas Wieland et al. · European Journal of Human Genetics · 2014 · 143 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7