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List of works by Maria Pettersson

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

scientific article published on 22 August 2018

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

scientific article published on 08 February 2019

Cytogenetically visible inversions are formed by multiple molecular mechanisms

scientific article published on 09 September 2020

Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis

scientific article published on 22 October 2018

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

scientific article published on 07 November 2019

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

scientific article published on 20 March 2017

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

scientific article published on 15 November 2016

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

scientific article published on 14 November 2017

Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility.

scientific article

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

scientific article published on 10 January 2019

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

scientific article published on 12 November 2018

Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish

scientific article

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia

scientific article published on 10 February 2020

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

scientific article published on 16 November 2016

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

scientific article published on 03 March 2020

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