Cima Saghira

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Petra Laššuthová, Adriana Rebelo, Gianina Ravenscroft et al. · The American Journal of Human Genetics · 2018 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Feasibility of functional precision medicine for guiding treatment of relapsed or refractory pediatric cancers

Arlet Acanda de la Rocha, Noah Berlow, Maggie Fader et al. · Nature Medicine · 2024 · 64 citations · Full text

Medicine, Oncology, Pediatrics +17

The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport

Renata de Moraes Maciel, Dana M. Bis‐Brewer, Adriana Rebelo et al. · Experimental Neurology · 2018 · 55 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Prot2HG: a database of protein domains mapped to the human genome

David Staněk, Dana M. Bis‐Brewer, Cima Saghira et al. · Database · 2020 · 21 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser

Cima Saghira, Dana M. Bis‐Brewer, David Staněk et al. · Human Mutation · 2018 · 19 citations

Life Sciences, Genetics, Molecular Genetics +17