Clinical Genomics Stockholm

SciLifeLab Infrastructure Unit Since 2013.

Started: 2013

Ended: Current

82 publications

Year 2021

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Hammarsjö A, Pettersson M, Chitayat D, ..., Lindstrand A, Grigelioniene G
pii: 10.1038/s10038-021-00925-x
J. Hum. Genet. - (-) - [2021-04-20; online 2021-04-20]
Clinical Genomics Stockholm [Service]

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]