Mendelics

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Building the sugarcane genome for biotechnology and identifying evolutionary trends

Nathalia de Setta, Cláudia Barros Monteiro-Vitorello, Cushla J. Metcalfe et al. · BMC Genomics · 2014 · 139 citations · Full text

Life Sciences, Genetics, Plant Sciences +14

<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Carla Marini, Alessandro Porro, Agnès Rastetter et al. · Brain · 2018 · 137 citations · Full text

Life Sciences, Genetics, Neurology +17

Complete Genome Sequence of Sporisorium scitamineum and Biotrophic Interaction Transcriptome with Sugarcane

Lucas Mitsuo Taniguti, Patrícia Dayane Carvalho Schaker, Juliana Benevenuto et al. · PLoS ONE · 2015 · 122 citations · Full text

Life Sciences, Genetics, Plant Sciences +17

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

Natássia M. Vieira, Michel Satya Naslavsky, Luciana Licínio et al. · Human Molecular Genetics · 2014 · 121 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17