4 Result(s)

Article

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algori...

Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura… in Genome Medicine (2023)

Article

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of sp...

Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson… in Nature Communications (2021)

Article

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

Àngels García-Cazorla, Edgard Verdura, Natalia Juliá-Palacios… in Acta Neuropathologica (2020)

Article

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

Between 8% and 22% of female carriers of DMD mutations exhibit clinical symptoms of variable severity. Development of symptoms in DMD mutation carriers without chromosomal rearrangements has been attributed to sk...

Jonàs Juan-Mateu, Maria José Rodríguez… in Orphanet Journal of Rare Diseases (2012)