Nasim Vasli

Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy

Ozge Ceyhan‐Birsoy, Pankaj B. Agrawal, Carlos Hidalgo et al. · Neurology · 2013 · 213 citations · Full text

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

Ricardo Harripaul, Nasim Vasli, Muhammad Rafiq et al. · Molecular Psychiatry · 2017 · 177 citations

Mendelian Disorder, Novel Candidate Genes, Genetic Disorder +6

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

Taimoor I. Sheikh, Nasim Vasli, Stephen F. Pastore et al. · Translational Psychiatry · 2021 · 147 citations · Full text

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Johann Böhm, Valérie Biancalana, Edoardo Malfatti et al. · Brain · 2014 · 99 citations

Mitochondrial Myopathy, Chromatin, Developmental Anomaly +13

Next generation sequencing for molecular diagnosis of neuromuscular diseases

Nasim Vasli, Johann Böhm, Stéphanie Le Gras et al. · Acta Neuropathologica · 2012 · 93 citations · Full text