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Frameshift mutation

Splice donor site sgRNAs enhance CRISPR/Cas9-mediated knockout efficiency

Ignacio García-Tuñón, Verónica Alonso-Pérez, [ ... ], Manuel Sánchez-Martín

Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world

Samuel Guan Wei Ow, Pei Yi Ong, Soo-Chin Lee

Molecular epidemiology and expression of capsular polysaccharides in Staphylococcus aureus clinical isolates in the United States

Naglaa Mohamed, Yekaterina Timofeyeva, [ ... ], Annaliesa S. Anderson

A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling

Fabiola Valenza, Davide Cittaro, [ ... ], Dejan Lazarević

Prevalence of elevated microsatellite alterations at selected tetranucleotide repeats in pancreatic ductal adenocarcinoma

Taiki Mori, Yasushi Hamaya, [ ... ], Ken Sugimoto

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

Sarah Moreau-Le Lan, Elena Aller, [ ... ], Laia Pedrola

Adaptation of Pseudomonas aeruginosa to the chronic phenotype by mutations in the algTmucABD operon in isolates from Brazilian cystic fibrosis patients

Natália Candido Caçador, Carolina Paulino da Costa Capizzani, [ ... ], Niels Høiby

Discovery of a Streptococcus pneumoniae serotype 33F capsular polysaccharide locus that lacks wcjE and contains a wcyO pseudogene

Sam Manna, Eileen M. Dunne, [ ... ], Catherine Satzke

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

Fabienne Charbit-Henrion, Bernadette Bègue, [ ... ], Nadine Cerf-Bensussan

Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants

Marina Andjelkovic, Predrag Minic, [ ... ], Sonja Pavlovic

Whole-exome sequencing capture kit biases yield false negative mutation calls in TCGA cohorts

Victor G. Wang, Hyunsoo Kim, Jeffrey H. Chuang

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

Lorena Martin-Morales, Paula Rofes, [ ... ], Trinidad Caldes

Clinical molecular testing for ASXL1 c.1934dupG p.Gly646fs mutation in hematologic neoplasms in the NGS era

Santiago Montes-Moreno, Mark J. Routbort, [ ... ], Keyur P. Patel

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