M.-L. Bondeson
Uppsala University(SE)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Lysosomal Storage Disorders Research, Genetics and Neurodevelopmental Disorders, Genomics and Phylogenetic Studies, Hearing, Cochlea, Tinnitus, Genetics
Most-Cited Works
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis(2014)142 cited
- → Candidate Gene Association Study for Noise‐induced Hearing Loss in Two Independent Noise‐exposed Populations(2009)80 cited
- → Molecular and phenotypic variation in patients with severe Hunter syndrome(1997)78 cited
- → A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features(2011)57 cited
- → Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation(2007)37 cited
- → MLGA a rapid and cost-efficient assay for gene copy-number analysis(2007)29 cited
- → A Novel Nonsense Mutation of the Mineralocorticoid Receptor Gene in a Swedish Family with Pseudohypoaldosteronism Type I (PHA1)(2004)26 cited
- → Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the geneW and theIDS gene(2000)12 cited