Clinical Genomics Stockholm

SciLifeLab National facility since 2013.

79 publications

Year 2021

Year 2020

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.
Pontén E, Frisk S, Taylan F, ..., Lagerstedt-Robinson K, Nordgren A
pii: jmedgenet-2020-107385
J. Med. Genet. - (-) - [2020-11-18; online 2020-11-18]
Clinical Genomics Stockholm [Service]
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia.
Stödberg T, Magnusson M, Lesko N, ..., Stranneheim H, Wedell A
pii: NG2020013649 pmc: PMC7357422
Neurol Genet 6 (4) e478 [2020-08-00; online 2020-07-02]
Clinical Genomics Stockholm [Service]
Chanjo: Clincal grade sequence coverage analysis
Andeer R, Magnusson M, Wedell A, Stranneheim H
F1000Res 9 (-) 615 [2020-06-16; online 2020-06-16]
Clinical Genomics Stockholm [Technology development]

Year 2019

Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.
Jensen KV, Frid M, Stödberg T, ..., Darin N, Grønborg S
pii: JMD212063 pmc: PMC6850975
JIMD Rep 50 (1) 1-8 [2019-11-00; online 2019-09-30]
Clinical Genomics Stockholm [Service]
Androgen Receptor Burden and Poor Response to Abiraterone or Enzalutamide in TP53 Wild-Type Metastatic Castration-Resistant Prostate Cancer.
De Laere B, Rajan P, Grönberg H, ..., Lindberg J, CORE-ARV-CTC and ProBIO Investigators
pii: 2732501 pmc: PMC6499126
JAMA Oncol 5 (7) 1060-1062 [2019-07-01; online 2019-05-03]
Clinical Genomics Stockholm [Service]

Year 2018

Chorea, psychosis, acanthocytosis, and prolonged survival associated with
Paucar M, Pajak A, Freyer C, ..., Wredenberg A, Svenningsson P
pii: WNL.0000000000006320 pmc: PMC6177277
Neurology 91 (15) 710-712 [2018-10-09; online 2018-09-14]
Bioinformatics Compute and Storage [Service] Clinical Genomics Stockholm [Service]
Ein Fall von Pankreaskarzinom
Löhr JM, Kordes M, Gustafsson-Liljefors M, ..., Permert J, Jäger D
Forum 33 (4) 232-235 [2018-09-00; online 2018-08-14]
Clinical Genomics Stockholm [Collaborative]
Differential impact of RB status on E2F1 reprogramming in human cancer.
McNair C, Xu K, Mandigo AC, ..., Brown M, Knudsen KE
pii: 93566 pmc: PMC5749518
J. Clin. Invest. 128 (1) 341-358 [2018-01-02; online 2017-12-04]
Clinical Genomics Stockholm [Service]

Year 2017

Genomic and phenotypic characteristics of Swedish C. jejuni water isolates.
Nilsson A, Johansson C, Skarp A, ..., Engstrand L, Rautelin H
pii: PONE-D-17-22124 pmc: PMC5720728
PLoS ONE 12 (12) e0189222 [2017-12-07; online 2017-12-07]
Clinical Genomics Stockholm [Service]
Genetic Profile of Ductal Adenocarcinoma of the Prostate.
Seipel AH, Whitington T, Delahunt B, ..., Lindberg J, Egevad L
pii: S0046-8177(17)30133-8
Hum. Pathol. - (-) - [2017-04-27; online 2017-04-27]
Clinical Genomics Stockholm [Service]
Stool frequency is associated with gut microbiota composition.
Hadizadeh F, Walter S, Belheouane M, ..., Franke A, D'Amato M
pii: gutjnl-2016-311935
Gut 66 (3) 559-560 [2017-03-00; online 2016-05-20]
Clinical Genomics Stockholm [Collaborative]

Year 2016

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.
Kostareva A, Kiselev A, Gudkova A, ..., Sejersen T, Shlyakhto E
pmc: PMC5035084 pii: PONE-D-16-01559
PLoS ONE 11 (9) e0163362 [2016-09-23; online 2016-09-23]
Clinical Genomics Stockholm [Service]
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Stessman HA, Willemsen MH, Fenckova M, ..., Eichler EE, Kleefstra T
pii: S0002-9297(16)00055-0 pmc: PMC4890241
Am. J. Hum. Genet. 98 (3) 541-552 [2016-03-03; online 2016-03-05]
Clinical Genomics Stockholm [Service]
The 5300-year-old Helicobacter pylori genome of the Iceman.
Maixner F, Krause-Kyora B, Turaev D, ..., Rattei T, Zink A
Science 351 (6269) 162-165 [2016-01-08; online 2016-01-09]
Clinical Genomics Stockholm [Collaborative]

Year 2015

Dormant phages of Helicobacter pylori reveal distinct populations in Europe.
Vale FF, Vadivelu J, Oleastro M, ..., Mégraud F, Lehours P
pii: srep14333 pmc: PMC4585682
Sci Rep 5 (-) 14333 [2015-09-21; online 2015-09-21]
Clinical Genomics Stockholm [Collaborative]