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Pettersson M

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Family name Pettersson
Given name Maria
Initials M
ORCID

ORCID 0000-0003-3120-1625
Affiliations Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

6 publications

PubMed DOI Crossref
Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63.
Pekkola Pacheco N, Pettersson M, Lindstrand A, Grigelioniene G
Am. J. Med. Genet. A 191 (7) 1929-1934 [2023-07-00; online 2023-04-05]
Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Pettersson M, Grochowski CM, Wincent J, ..., Carvalho CMB, Lindstrand A
Hum. Mutat. 41 (11) 1979-1998 [2020-11-00; online 2020-10-01]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
Plesser Duvdevani M, Pettersson M, Eisfeldt J, ..., Lindstrand A, Harel T
Am. J. Med. Genet. A 182 (5) 1143-1151 [2020-05-00; online 2020-03-03]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
Dahl S, Pettersson M, Eisfeldt J, ..., Anderlid BM, Lindstrand A
PLoS ONE 15 (2) e0228622 [2020-02-10; online 2020-02-10]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.
Eisfeldt J, Pettersson M, Vezzi F, ..., Carvalho CMB, Lindstrand A
PLoS Genet. 15 (2) e1007858 [2019-02-00; online 2019-02-08]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
Nazaryan-Petersen L, Eisfeldt J, Pettersson M, ..., Tümer Z, Lindstrand A
PLoS Genet. 14 (11) e1007780 [2018-11-00; online 2018-11-12]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
SciLifeLab Data Centre
Publications 9.5.1