Laura Campello Blasco

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

François Boemer, Jean‐Hubert Caberg, Pablo Beckers et al. · Scientific Reports · 2021 · 75 citations · Full text

Medicine, Genetics, Pediatrics +16

Practical guidelines to manage discordant situations of <i>SMN2</i> copy number in patients with spinal muscular atrophy

Ivon Cuscó, Sara Bernal, Laura Campello Blasco et al. · Neurology Genetics · 2020 · 58 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Beyond copy number: A new, rapid, and versatile method for sequencing the entire <i>SMN2</i> gene in SMA patients

Laura Campello Blasco, Ida Paramonov, Jordi Leno-Colorado et al. · Human Mutation · 2021 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations

Romina Dieli-Crimi, Mónica Martínez‐Gallo, Clara Franco‐Jarava et al. · Clinical Immunology · 2018 · 36 citations

Life Sciences, Immunology, Pathology +15

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

Silvia M. Vidal, Núria Brandi, Paola Pacheco et al. · Scientific Reports · 2017 · 32 citations · Full text

Medicine, Genetics, Molecular Genetics +16