Melin M

Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR.

De Coster W, Hoijer I, Bruggeman I, ..., Ameur A, Rademakers R

Genome Res. - (-) - [2024-08-15; online 2024-08-15]

NGI Long read [Technology development] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]

Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort.

Mathioudaki A, Ljungström V, Melin M, ..., Sjöblom T, Lindblad-Toh K

Sci Rep 10 (1) 19304 [2020-11-09; online 2020-11-09]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.

Körberg I, Nowinski D, Bondeson ML, ..., Kölby L, Stattin EL

BMC Med. Genet. 21 (1) 90 [2020-05-05; online 2020-05-05]

Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Impact of vitamin D and vitamin D receptor TaqI polymorphism in primary human myoblasts.

Saini A, Björkhem-Bergman L, Boström J, ..., Rullman E, Gustafsson T

Endocr Connect 8 (7) 1070-1081 [2019-07-29; online 2019-07-29]

Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

Gudmundsson S, Annerén G, Marcos-Alcalde Í, ..., Gómez-Puertas P, Bondeson ML

Eur J Med Genet 62 (6) 103526 [2019-06-00; online 2018-08-17]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Uppsala [Collaborative]