M. Chiara Manzini

Cross‐Coupling of Heteroarenes by CH Functionalization: Recent Progress towards Direct Arylation and Heteroarylation Reactions Involving Heteroarenes Containing One Heteroatom

Renzo Rossi, Fabio Bellina, Marco Lessi et al. · Advanced Synthesis & Catalysis · 2014 · 431 citations · Full text

A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Sterility

Silvia Bione, Cinzia Sala, M. Chiara Manzini et al. · The American Journal of Human Genetics · 1998 · 256 citations

Conserved Function, Infertility, Developmental Biology +13

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

Elizabeth Stevens, Keren Carss, Sebahattin Çirak et al. · The American Journal of Human Genetics · 2013 · 192 citations · Full text

Mendelian Disorder, Developmental Biology, Genetic Disorder +2

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

M. Chiara Manzini, Dimira Tambunan, R. Sean Hill et al. · The American Journal of Human Genetics · 2012 · 183 citations · Full text

Engineering, Mendelian Disorder, Genetic Disorder +12

Structure of the STRA6 receptor for retinol uptake

Yunting Chen, Oliver B. Clarke, Jonathan Kim et al. · Science · 2016 · 151 citations · Full text

Proteinlipid Interaction, Molecular Biology, Stra6 Receptor +19