Söderkvist P

Implementing precision medicine in a regionally organized healthcare system in Sweden.

Fioretos T, Wirta V, Cavelier L, ..., Edsjö A, Rosenquist R

Nat. Med. 28 (10) 1980-1982 [2022-10-00; online 2022-09-20]

Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Linköping [Service] Clinical Genomics Stockholm [Collaborative] Clinical Genomics Umeå [Service] Clinical Genomics Uppsala [Collaborative]

Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families.

Chibani Z, Abid IZ, Söderkvist P, Feki J, Aifa MH

Br J Ophthalmol 106 (2) 281-287 [2022-02-00; online 2021-04-20]

Clinical Genomics Linköping [Service]

Association between inflammasome-related polymorphisms and psoriatic arthritis.

Juneblad K, Kastbom A, Johansson L, ..., Söderkvist P, Alenius G

Scand. J. Rheumatol. 50 (3) 206-212 [2021-05-00; online 2020-12-10]

Clinical Genomics Linköping [Service]

Activation of RAS Signalling is Associated with Altered Cell Adhesion in Phaeochromocytoma.

Rossitti HM, Dutta RK, Larsson C, ..., Söderkvist P, Gimm O

Int J Mol Sci 21 (21) 8072 [2020-10-29; online 2020-10-29]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Linköping [Service]

ABCB1 single-nucleotide variants and survival in patients with glioblastoma treated with radiotherapy concomitant with temozolomide.

Malmström A, Łysiak M, Åkesson L, ..., Green H, Söderkvist P

Pharmacogenomics J. 20 (2) 213-219 [2020-04-00; online 2019-10-17]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Linköping [Service]

Do we really know who has an MGMT methylated glioma? Results of an international survey regarding use of MGMT analyses for glioma.

Malmström A, Łysiak M, Kristensen BW, ..., Henriksson R, Söderkvist P

Neurooncol Pract 7 (1) 68-76 [2020-01-00; online 2019-09-24]

Clinical Genomics Linköping [Service]

Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families.

Chibani Z, Abid IZ, Molbaek A, ..., Feki J, Hmani-Aifa M

Clin Exp Ophthalmol 47 (8) 1063-1073 [2019-11-00; online 2019-07-24]

Clinical Genomics Linköping [Service]

Assessment of genetic and non-genetic risk factors for venous thromboembolism in glioblastoma - The predictive significance of B blood group.

Heenkenda MK, Malmström A, Lysiak M, ..., Uppugunduri S, Osman A

Thromb. Res. 183 (-) 136-142 [2019-11-00; online 2019-10-22]

Clinical Genomics Linköping [Service]

A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma.

Dutta RK, Arnesen T, Heie A, ..., Söderkvist P, Gimm O

Eur. J. Endocrinol. 181 (5) K37-K41 [2019-11-00; online 2019-09-07]

Clinical Genomics Linköping [Service]

Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.

Eriksson D, Bianchi M, Landegren N, ..., Rosengren Pielberg G, Kämpe O

Sci Rep 8 (1) 8395 [2018-05-30; online 2018-05-30]

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

Activating FGFR1 Mutations in Sporadic Pheochromocytomas.

Welander J, Łysiak M, Brauckhoff M, ..., Söderkvist P, Gimm O

World J Surg 42 (2) 482-489 [2018-02-00; online 2017-11-22]

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

Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease.

Eriksson D, Bianchi M, Landegren N, ..., Kämpe O, Pielberg GR

J. Intern. Med. 280 (6) 595-608 [2016-12-00; online 2016-11-02]

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

PROX1 is a novel pathway-specific prognostic biomarker for high-grade astrocytomas; results from independent glioblastoma cohorts stratified by age and IDH mutation status.

Roodakker KR, Elsir T, Edqvist PD, ..., Malmström A, Smits A

Oncotarget 7 (45) 72431-72442 [2016-11-08; online 2016-09-15]

Tissue Profiling [Collaborative]

Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.

Nordmark G, Kristjansdottir G, Theander E, ..., Jonsson R, Syvänen AC

Genes Immun. 12 (2) 100-109 [2011-03-00; online 2010-09-23]

NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure