Eur J Med Genet

The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis.

Topa A, Rohlin A, Andersson MK, ..., Stenman G, Kölby L

Eur J Med Genet 65 (5) 104476 [2022-05-00; online 2022-03-21]

Bioinformatics Support for Computational Resources [Service] NGI Short read [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]

Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation.

Khan TN, Klar J, Ali Z, ..., Baig SM, Dahl N

Eur J Med Genet 56 (7) 371-374 [2013-07-00; online 2013-05-15]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1.

Zambrano RM, Wohler E, Annerén G, ..., Cutting GR, Batista DA

Eur J Med Genet 54 (2) 189-193 [2010-12-07; online 2010-12-07]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.

Nyström AM, Ekvall S, Thuresson AC, ..., Annerén G, Bondeson ML

Eur J Med Genet 53 (3) 117-121 [2010-03-17; online 2010-03-17]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure