Sandra Martins

Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy

M. Carmo-Fonseca, F. Enguita, L. Lopes, 2017, PloS one.

The emerging role of splicing factors in cancer

M. Carmo-Fonseca, A. Grosso, Sandra Martins, 2008, EMBO reports.

RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy

M. Carmo-Fonseca, Sandra Martins, T. Carvalho, 2020, International journal of molecular sciences.

Spliceosome assembly is coupled to RNA polymerase II dynamics at the 3′ end of human genes

M. Carmo-Fonseca, Minoru Yoshida, J. Rino, 2011, Nature Structural &Molecular Biology.

Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations.

M. Carmo-Fonseca, F. Enguita, Sandra Martins, 2015, Human molecular genetics.

Pharmacological inhibition of the spliceosome subunit SF3b triggers exon junction complex-independent nonsense-mediated decay

M. Carmo-Fonseca, J. Rino, Sandra Martins, 2017, Journal of Cell Science.

Pharmacological inhibition of the spliceosome subunit SF 3 b triggers EJC-independent NMD

M. Carmo-Fonseca, J. Rino, Sandra Martins, 2017 .

Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations.

M. Carmo-Fonseca, F. Enguita, Sandra Martins, 2015, Human molecular genetics.