Pettersson M

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 [Service] Clinical Genomics Stockholm [Service]

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]

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]

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]

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 [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

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]