Clinical Genomics Stockholm

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SciLifeLab Infrastructure Unit Since 2013.

Primary: Shown in the list of current labels, if end date is not specified.

Started: 2013

Ended: Current

Year 2025

PubMed DOI Crossref
A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.
Ehn E, Eisfeldt J, Laffita-Mesa JM, ..., Nennesemo I, Graff C
Sci Rep 15 (1) 2912 [2025-01-23; online 2025-01-23]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Year 2024

PubMed DOI Crossref
Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature.
Maya-González C, Delgado-Vega AM, Taylan F, ..., Martinsson T, Nordgren A
Am. J. Med. Genet. A 194 (12) e63812 [2024-12-00; online 2024-07-11]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.
Bilgrav Saether K, Eisfeldt J, Bengtsson JD, ..., Carvalho CMB, Lindstrand A
Genome Res. 34 (11) 1785-1797 [2024-11-20; online 2024-11-20]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Detecting transposable elements in long read genomes using sTELLeR.
Bilgrav Saether K, Eisfeldt J
Bioinformatics - (-) - [2024-11-18; online 2024-11-18]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Prospective Screening of Cancer Syndromes in Patients with Mesenchymal Tumors.
Öfverholm I, Lin Y, Mondini J, ..., Haglund de Flon F, Wallander K
Cancers (Basel) 16 (22) 3816 [2024-11-13; online 2024-11-13]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta.
Batkovskyte D, Swolin-Eide D, Hammarsjö A, ..., Åström E, Grigelioniene G
Am. J. Med. Genet. A - (-) e63935 [2024-11-08; online 2024-11-08]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Pasteurella multocida from deep nasal swabs and tracheobronchial lavage in bovine calves from Sweden.
Myrenås M, Pringle M, Harbom B, Bengtsson B
Acta Vet. Scand. 66 (1) 58 [2024-11-05; online 2024-11-05]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, ..., Cederroth M, Nordgren A
Nat. Genet. 56 (11) 2287-2294 [2024-11-00; online 2024-10-22]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] Clinical Genomics Stockholm [Service] Clinical Genomics Uppsala [Collaborative] NGI Long read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Molecular Profiling Defines Three Subtypes of Synovial Sarcoma.
Chen Y, Su Y, Cao X, ..., Li X, de Flon FH
Adv Sci (Weinh) 11 (41) e2404510 [2024-11-00; online 2024-09-10]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] Global Proteomics and Proteogenomics [Service]
DOI Crossref
Genomic analyses of Streptococcus uberis reveal high diversity but few antibiotic resistance genes
Myrenås M, Fasth C, Waller KP, Pedersen K
Vet. Microbiol. - (-) 110319 [2024-11-00; online 2024-11-00]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Androgen receptor pathway inhibitors and taxanes in metastatic prostate cancer: an outcome-adaptive randomized platform trial.
De Laere B, Crippa A, Discacciati A, ..., Grönberg H, Lindberg J
Nat. Med. 30 (11) 3291-3302 [2024-11-00; online 2024-08-20]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease.
Correia SP, Moedas MF, Taylor LS, ..., Wedell A, Wredenberg A
JCI Insight 9 (20) - [2024-10-22; online 2024-10-22]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy: A Register-Based Cohort Study.
Maya-González C, Tettamanti G, Taylan F, ..., Sejersen T, Nordgren A
Neurology 103 (8) e209883 [2024-10-22; online 2024-09-19]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Smart variant filtering - A blueprint solution for massively parallel sequencing-based variant analysis.
Brahimllari O, Eloranta S, Georgii-Hemming P, ..., Wästerlid T, Boman M
Health Informatics J 30 (4) 14604582241290725 [2024-10-12; online 2024-10-12]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
DOI Crossref
Genomic Analyses of Methicillin-Resistant Staphylococcus pseudintermedius from Companion Animals Reveal Changing Clonal Populations, Multidrug Resistance, and Virulence
Myrenås M, Pedersen K, Windahl U
Antibiotics (Basel) 13 (10) 962 [2024-10-12; online 2024-10-12]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
A novel SARS-CoV-2 recombinant transmitted from a patient with an acute co-infection.
Dyrdak R, Stamouli S, Ganeshappa Aralaguppe S, ..., Murrell B, Albert J
Lancet Microbe - (-) 100998 [2024-10-01; online 2024-10-01]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.
Tvergaard NK, Tkemaladze T, Stödberg T, ..., Tümer Z, Bayat A
Clin. Genet. 106 (4) 427-436 [2024-10-00; online 2024-06-18]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Early unrecognised SARS-CoV-2 introductions shaped the first pandemic wave, Sweden, 2020.
Dyrdak R, Hodcroft EB, Broddesson S, ..., Neher RA, Albert J
Euro Surveill. 29 (41) - [2024-10-00; online 2024-10-11]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.
Gregersen PA, Hammarsjö A, Graversen L, ..., Hellfritzsch MB, Grigelioniene G
Clin. Genet. - (-) - [2024-09-06; online 2024-09-06]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Atypical Interference in Hb A1c Measurements Might Be Due to Mosaic Expression of Hemoglobin Variants.
Strålfors A, Lagerstedt-Robinson K, Landin B
Clin. Chem. 70 (9) 1185-1187 [2024-09-03; online 2024-07-03]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs.
Paucar M, Nilsson D, Engvall M, ..., Wedell A, Svenningsson P
J. Intern. Med. 296 (3) 234-248 [2024-09-00; online 2024-07-07]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Soft Tissue Tumor with PAK2::RAF1 Kinase Fusion: An Emerging Sarcoma Entity.
Haglund C, Behrendtz M, Hesla A, Haglund de Flon F
Case Rep Oncol 17 (1) 960-965 [2024-08-30; online 2024-08-30]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.
Chiang SCC, Covill LE, Tesi B, ..., Meeths M, Bryceson YT
Blood 144 (8) 873-887 [2024-08-22; online 2024-07-03]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Micro-costing of genetic diagnostics in acute leukemia in Sweden: from standard-of-care to whole-genome sequencing.
Thangavelu T, Wirta V, Orsmark-Pietras C, ..., Rosenquist R, Levin LÅ
J Med Econ 27 (1) 1053-1060 [2024-08-08; online 2024-08-08]
Clinical Genomics [Service] Clinical Genomics Lund [Service] Clinical Genomics Stockholm [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Systematic review and feasibility study on pre-analytical factors and genomic analyses on archival formalin-fixed paraffin-embedded breast cancer tissue.
Salgkamis D, Sifakis EG, Agartz S, ..., Matikas A, Zerdes I
Sci Rep 14 (1) 18275 [2024-08-06; online 2024-08-06]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing.
Wincent J, Helgadóttir HT, Sergouniotis F, ..., Lindstrand A, Iwarsson E
Acta Obstet Gynecol Scand 103 (8) 1564-1569 [2024-08-00; online 2024-06-14]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Cancer Core Europe: Leveraging Institutional Synergies to Advance Oncology Research and Care Globally.
Carmona J, Chavarria E, Donoghue K, ..., Zwart W, Tabernero J
Cancer Discov 14 (7) 1147-1153 [2024-07-01; online 2024-06-13]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Uncommon Variants in FLG2 and NOD2 Are Associated with Atopic Dermatitis in the Ethiopian Population.
Wang S, Elmgren JK, Eisfeldt J, ..., Tapia-Paez I, Bradley M
JID Innov 4 (4) 100284 [2024-07-00; online 2024-04-29]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture-Based Gene Panel.
Orsmark-Pietras C, Lyander A, Ladenvall C, ..., Fioretos T, SciLifeLab Clinical Genomics Platform and Genomic Medicine Sweden
Genes Chromosomes Cancer 63 (7) e23257 [2024-07-00; online 2024-07-20]
Clinical Genomics [Service] Clinical Genomics Lund [Service] Clinical Genomics Stockholm [Service] Clinical Genomics Uppsala [Technology development]
PubMed DOI Crossref
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I, Wallander K, Haglund C, ..., Lin Y, Haglund de Flon F
Clin. Cancer Res. 30 (12) 2647-2658 [2024-06-14; online 2024-04-04]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
PIK3CA mutations in endocrine-resistant breast cancer.
Schagerholm C, Robertson S, Toosi H, Sifakis EG, Hartman J
Sci Rep 14 (1) 12542 [2024-05-31; online 2024-05-31]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
NGS method for parallel processing of high quality, damaged or fragmented input material using target enrichment.
Lyander A, Gellerbring A, Hägglund M, Elhami K, Wirta V
PLoS ONE 19 (5) e0304411 [2024-05-29; online 2024-05-29]
Clinical Genomics [Technology development] Clinical Genomics Stockholm [Technology development]
PubMed DOI Crossref
Novel findings in a Swedish primary familial brain calcification cohort.
Sennfält S, Gustavsson P, Malmgren H, ..., Svenningsson P, Paucar M
J. Neurol. Sci. 460 (-) 123020 [2024-05-15; online 2024-04-18]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.
Westenius E, Conner P, Pettersson M, ..., Lindstrand A, Iwarsson E
Ultrasound Obstet Gynecol 63 (5) 658-663 [2024-05-00; online 2024-04-14]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.
Tesi B, Robinson KL, Abel F, ..., Taylan F, Nordgren A
Lancet Reg Health Eur 39 (-) 100881 [2024-04-00; online 2024-03-19]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
DOI Crossref
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency
Bruhn H, Naess K, Ygberg S, ..., Wedell A, Wredenberg A
Hum. Mutat. 2024 (-) 1-16 [2024-03-25; online 2024-03-25]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans.
Wang S, Nikamo P, Laasonen L, ..., Ståhle M, Tapia-Paez I
EMBO Mol Med 16 (3) 596-615 [2024-03-00; online 2024-02-20]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
Johansson J, Lidéus S, Frykholm C, ..., Wilbe M, Bondeson ML
Eur. J. Hum. Genet. 32 (3) 333-341 [2024-03-00; online 2023-06-05]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Prediction of plasma ctDNA fraction and prognostic implications of liquid biopsy in advanced prostate cancer.
Fonseca NM, Maurice-Dror C, Herberts C, ..., Chi KN, Wyatt AW
Nat Commun 15 (1) 1828 [2024-02-28; online 2024-02-28]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Editorial: Decoding the genome of acute lymphoblastic leukemia through genomic and transcriptomic approaches.
Jiménez-Morales S, Rojas-Martinez A, Barbany G
Front Oncol 14 (-) 1368676 [2024-02-06; online 2024-02-06]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.
Bastard P, Gervais A, Taniguchi M, ..., Cobat A, Casanova JL
J. Exp. Med. 221 (2) - [2024-02-05; online 2024-01-04]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
DOI Crossref
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder
Yahia A, Li D, Lejerkrans S, ..., Kalnak N, Tammimies K
Hum Genet 143 (2) 169-183 [2024-02-00; online 2024-02-01]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
DOI Crossref
Antimicrobial susceptibilities and genomic characteristics of methicillin‐resistant Staphylococcus aureus resistant to mupirocin in Stockholm, Sweden
Vestberg N, Razavi M, Giske CG, Fang H
APMIS 132 (2) 94-99 [2024-02-00; online 2023-11-15]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Evaluation of Genetic or Cellular Impairments in Type I IFN Immunity in a Cohort of Young Adults with Critical COVID-19.
Covill LE, Sendel A, Campbell TM, ..., Bergman P, Bryceson YT
J Clin Immunol 44 (2) 50 [2024-01-17; online 2024-01-17]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.
Batkovskyte D, Komatsu M, Hammarsjö A, ..., Nishimura G, Yamada T
Clin. Genet. 105 (1) 87-91 [2024-01-00; online 2023-08-24]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Year 2023

PubMed DOI Crossref
Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia.
Krali O, Marincevic-Zuniga Y, Arvidsson G, ..., Syvänen AC, Nordlund J
NPJ Precis Oncol 7 (1) 131 [2023-12-08; online 2023-12-08]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.
Ben-Shabat I, Kvarnung M, Sperker W, ..., Engvall M, Paucar M
Neurol Genet 9 (6) e200100 [2023-12-00; online 2023-11-28]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Jacob P, Lindelöf H, Rustad CF, ..., Girisha KM, Grigelioniene G
npj Genom. Med. 8 (1) 39 [2023-11-22; online 2023-11-22]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Sensitivity of the SARS-CoV-2 BA.2.86 variant to prevailing neutralising antibody responses.
Sheward DJ, Yang Y, Westerberg M, ..., Albert J, Murrell B
Lancet Infect Dis 23 (11) e462-e463 [2023-11-00; online 2023-09-27]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Intramammary infections and risk factors in freshly calved heifers in Swedish dairy herds.
Persson Waller K, Lundberg Å, Börjesson S, Nyman AK
J Dairy Sci 106 (11) 7893-7907 [2023-11-00; online 2023-05-18]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Genotypic characterization of Staphylococcus chromogenes and Staphylococcus simulans from Swedish cases of bovine subclinical mastitis.
Persson Waller K, Myrenås M, Börjesson S, ..., Östlund E, Cha W
J Dairy Sci 106 (11) 7991-8004 [2023-11-00; online 2023-08-23]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Le Voyer T, Parent AV, Liu X, ..., Casanova JL, Puel A
Nature 623 (7988) 803-813 [2023-11-00; online 2023-11-08]
Autoimmunity and Serology Profiling [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
Erdinc D, Macao B, Valenzuela S, ..., Wredenberg A, Falkenberg M
Biochim Biophys Acta Mol Basis Dis 1869 (7) 166786 [2023-10-00; online 2023-06-10]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Precision medicine in rare diseases: What is next?
Tesi B, Boileau C, Boycott KM, ..., Nordgren A, Lindstrand A
J. Intern. Med. 294 (4) 397-412 [2023-10-00; online 2023-06-01]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report.
De Geer K, Mascianica K, Naess K, ..., Lindstrand A, Björck E
BMC Ophthalmol 23 (1) 394 [2023-09-26; online 2023-09-26]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
DOI Crossref
Antimicrobial susceptibilities and genomic epidemiology of Neisseria gonorrhoeae in Stockholm, Sweden
Vestberg N, Bhattarai KH, Fang H
Eur J Clin Microbiol Infect Dis 42 (9) 1073-1079 [2023-09-00; online 2023-07-13]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia.
Rezayee F, Eisfeldt J, Skaftason A, ..., Rosenquist R, Barbany G
Front Oncol 13 (-) 1217712 [2023-08-14; online 2023-08-14]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transposable element insertions in 1000 Swedish individuals.
Bilgrav Saether K, Nilsson D, Thonberg H, ..., Eisfeldt J, Lindstrand A
PLoS ONE 18 (7) e0289346 [2023-07-28; online 2023-07-28]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation.
Maya-González C, Wessman S, Lagerstedt-Robinson K, ..., Skarin Nordenvall A, Nordgren A
Front Med (Lausanne) 10 (-) 1172565 [2023-07-28; online 2023-07-28]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.
Henry OJ, Stödberg T, Båtelson S, ..., Stranneheim H, Wedell A
Mol Genet Genomic Med 11 (7) e2167 [2023-07-00; online 2023-03-26]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63.
Pekkola Pacheco N, Pettersson M, Lindstrand A, Grigelioniene G
Am. J. Med. Genet. A 191 (7) 1929-1934 [2023-07-00; online 2023-04-05]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Core genome multilocus sequence typing (cgMLST) confirms systemic spread of avian pathogenic Escherichia coli (APEC) in broilers with cellulitis.
Jonare L, Östlund E, Söderlund R, ..., Aspán A, Jansson DS
Vet. Microbiol. 282 (-) 109755 [2023-07-00; online 2023-04-24]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
Garza Flores A, Nordgren I, Pettersson M, ..., Nishimura G, Grigelioniene G
Front Genet 14 (-) 1174046 [2023-06-23; online 2023-06-23]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Hakkarainen M, Kaaja I, Douglas SPM, ..., Kilpivaara O, Wartiovaara-Kautto U
Blood 141 (23) 2853-2866 [2023-06-08; online 2023-03-24]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
The BioLymph study - implementing precision medicine approaches in lymphoma diagnostics, treatment and follow-up: feasibility and first results.
Smedby KE, Wästerlid T, Tham E, ..., Sonnevi K, Rosenquist R
Acta Oncol 62 (6) 560-564 [2023-06-00; online 2023-07-06]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer.
Wadensten E, Wessman S, Abel F, ..., Gisselsson D, Genomic Medicine Sweden Childhood Cancer Working Group
JCO Precision Oncology 7 (-) e2300039 [2023-06-00; online 2023-06-29]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Short read [Collaborative] NGI Stockholm (Genomics Production) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.
Grudzinska Pechhacker MK, Molnar A, Pekkola Pacheco N, ..., Nordgren A, Lindstrand A
Ophthalmic Genet - (-) 1-8 [2023-05-29; online 2023-05-29]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Shiga toxin-producing Escherichia coli (STEC) and atypical enteropathogenic E. coli (aEPEC) in Swedish retail wheat flour.
Söderlund R, Flink C, Aspán A, Eriksson E
Access Microbiol 5 (5) - [2023-05-03; online 2023-05-03]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Batkovskyte D, McKenzie F, Taylan F, ..., Nishimura G, Grigelioniene G
J. Bone Miner. Res. 38 (5) 692-706 [2023-05-00; online 2023-03-27]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Matuozzo D, Talouarn E, Marchal A, ..., Abel L, Cobat A
Genome Med 15 (1) - [2023-04-05; online 2023-04-05]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
One Health surveillance-A cross-sectoral detection, characterization, and notification of foodborne pathogens.
Tast Lahti E, Karamehmedovic N, Riedel H, ..., Zajac M, Jernberg C
Front Public Health 11 (-) 1129083 [2023-03-08; online 2023-03-08]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer.
Wallander K, Haider Z, Jeggari A, ..., Lindblad M, Tham E
Cancers (Basel) 15 (4) - [2023-02-11; online 2023-02-11]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Benchmarking of two bioinformatic workflows for the analysis of whole-genome sequenced Staphylococcus aureus collected from patients with suspected sepsis.
Shemirani MI, Tilevik D, Tilevik A, ..., Enroth H, Pernestig AK
BMC Infect. Dis. 23 (1) 39 [2023-01-20; online 2023-01-20]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.
Young C, Batkovskyte D, Kitamura M, ..., Grigelioniene G, Kobayashi T
HGG Adv 4 (1) 100148 [2023-01-12; online 2022-10-04]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia.
Krstic A, Rezayee F, Saft L, ..., Svenberg P, Barbany G
Front Pediatr 10 (-) 1082986 [2023-01-10; online 2023-01-10]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors.
Borgström EW, Edvinsson M, Pérez LP, ..., Brodin P, Bergman P
J Clin Immunol 43 (1) 136-150 [2023-01-00; online 2022-09-02]
Bioinformatics Support for Computational Resources [Service] Cellular Immunomonitoring [Collaborative] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, ..., Hoogerbrugge N, Oliveira C
Lancet Oncol 24 (1) 91-106 [2023-01-00; online 2022-11-24]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Year 2022

PubMed DOI Crossref
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.
Persani L, Cools M, Ioakim S, ..., Vezzoli V, Rossetti R
Endocr Connect 11 (12) - [2022-12-01; online 2022-11-14]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Sequence-based genotyping of extra-intestinal pathogenic Escherichia coli isolates from patients with suspected community-onset sepsis, Sweden.
Tilevik D, Pernestig AK, Fagerlind M, ..., Johansson M, Enroth H
Microb Pathog 173 (Pt A) 105836 [2022-12-00; online 2022-10-17]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Characterization of a Clostridioides difficile outbreak caused by PCR ribotype 046, associated with increased mortality.
Magnusson C, Mernelius S, Bengnér M, ..., Forshell S, Matussek A
Emerg Microbes Infect 11 (1) 850-859 [2022-12-00; online 2022-03-05]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Omicron sublineage BA.2.75.2 exhibits extensive escape from neutralising antibodies.
Sheward DJ, Kim C, Fischbach J, ..., Peacock TP, Murrell B
Lancet Infect Dis 22 (11) 1538-1540 [2022-11-00; online 2022-10-14]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Lindstrand A, Ek M, Kvarnung M, ..., Pettersson M, Nordgren A
Genet Med 24 (11) 2296-2307 [2022-11-00; online 2022-09-06]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
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 [Collaborative] Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Linköping [Service] Clinical Genomics Stockholm [Collaborative] Clinical Genomics Umeå [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA, Tossing G, Mulroe F, ..., Campeau PM, Escayg A
Brain - (-) - [2022-09-08; online 2022-09-08]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Rosenhahn E, O'Brien TJ, Zaki MS, ..., Maroofian R, Platzer K
Am. J. Hum. Genet. 109 (8) 1421-1435 [2022-08-04; online 2022-07-12]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
Zhang Q, Matuozzo D, Le Pen J, ..., Cobat A, Casanova JL
J. Exp. Med. 219 (8) - [2022-08-01; online 2022-06-16]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Combining biomarker and virus phylogenetic models improves HIV-1 epidemiological source identification.
Lundgren E, Romero-Severson E, Albert J, Leitner T
PLoS Comput. Biol. 18 (8) e1009741 [2022-08-00; online 2022-08-26]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study.
Arthur C, Rezayee F, Mogensen N, ..., Tham E, Barbany G
Front Oncol 12 (-) 899325 [2022-07-05; online 2022-07-05]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency.
Campbell TM, Liu Z, Zhang Q, ..., Meyts I, Bryceson YT
J. Exp. Med. 219 (7) - [2022-07-04; online 2022-06-07]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Genomic profile - a possible diagnostic and prognostic marker in upper tract urothelial carcinoma.
Grahn A, Eisfeldt J, Malm C, ..., Tham E, Brehmer M
BJU Int. 130 (1) 92-101 [2022-07-00; online 2021-08-29]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up.
Lindelöf H, Horemuzova E, Voss U, ..., Grigelioniene G, Hammarsjö A
Front Endocrinol (Lausanne) 13 (-) 862908 [2022-06-13; online 2022-06-13]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Mutation in the TACI gene and autoimmune neutropenia: A case report.
Bergman P, Broliden PA, Ratcliffe P, ..., Höglund P, Palmblad J
Am. J. Hematol. 97 (6) E207-E210 [2022-06-01; online 2022-03-26]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Rasi C, Nilsson D, Magnusson M, ..., Wirta V, Stranneheim H
Hum. Mutat. 43 (6) 708-716 [2022-06-00; online 2022-03-07]
Clinical Genomics [Technology development] Clinical Genomics Stockholm [Technology development]
PubMed DOI Crossref
Evolution, geographic spreading, and demographic distribution of Enterovirus D68.
Hodcroft EB, Dyrdak R, Andrés C, ..., Neher RA, Albert J
PLoS Pathog. 18 (5) e1010515 [2022-05-00; online 2022-05-31]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias.
Berglund E, Barbany G, Orsmark-Pietras C, ..., Fioretos T, Rosenquist R
Front Med (Lausanne) 9 (-) 842507 [2022-03-24; online 2022-03-24]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Stockholm [Collaborative] Clinical Genomics Umeå [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
Zhao S, Zhang Y, Hallgrimsdottir S, ..., Grigelioniene G, Wu N
npj Genom. Med. 7 (1) 11 [2022-02-15; online 2022-02-15]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Sustained Response to Entrectinib in an Infant With a Germline ALKAL2 Variant and Refractory Metastatic Neuroblastoma With Chromosomal 2p Gain and Anaplastic Lymphoma Kinase and Tropomyosin Receptor Kinase Activation.
Treis D, Umapathy G, Fransson S, ..., Martinsson T, Kogner P
JCO Precision Oncology 6 (6) e2100271 [2022-01-00; online 2022-01-28]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] Clinical Genomics Stockholm [Service]

Year 2021

PubMed DOI Crossref
Childhood Kaposi sarcoma related to hypomorphic severe combined immunodeficiency caused by a novel CORO1A mutation.
Muleviciene A, Sekine T, Zondag T, ..., Tesi B, Rascon J
Pediatr Blood Cancer - (-) e29487 [2021-12-16; online 2021-12-16]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Whitman MC, Barry BJ, Robson CD, ..., Manoli I, Engle EC
Hum Genet 140 (12) 1709-1731 [2021-12-00; online 2021-10-15]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections: Case Report.
Hussein D, Olsson C, Lagerstedt-Robinson K, Moreira T
Neurol Genet 7 (6) e625 [2021-12-00; online 2021-09-14]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant.
Paucar M, Tesi B, Eshtad S, ..., Bryceson YT, Svenningsson P
Neurol Genet 7 (6) e628 [2021-12-00; online 2021-10-28]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Interplay between copy number alterations and immune profiles in the early breast cancer Scandinavian Breast Group 2004-1 randomized phase II trial: results from a feasibility study.
Zerdes I, Simonetti M, Matikas A, ..., Crosetto N, Foukakis T
NPJ Breast Cancer 7 (1) 144 [2021-11-19; online 2021-11-19]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Characterization of Staphylococcus aureus From Subclinical Mastitis Cases in Dairy Cows in Rwanda.
Ndahetuye JB, Leijon M, Båge R, Artursson K, Persson Y
Front Vet Sci 8 (-) 751229 [2021-11-18; online 2021-11-18]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Longitudinal study of Staphylococcus aureus genotypes isolated from bovine clinical mastitis.
Leijon M, Atkins E, Persson Waller K, Artursson K
J Dairy Sci 104 (11) 11945-11954 [2021-11-00; online 2021-08-26]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
Utredning av den initiala smittspridningen av SARS-CoV-2 till och inom Sverige
Dyrdak R, Albert J
SOU 89 (-) - [2021-10-29]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
Wallander K, Thonberg H, Nilsson D, Tham E
Hered Cancer Clin Pract 19 (1) 46 [2021-10-28; online 2021-10-28]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
SLC4A2 Deficiency Causes a New Type of Osteopetrosis.
Xue JY, Grigelioniene G, Wang Z, ..., Ikegawa S, Guo L
J. Bone Miner. Res. - (-) - [2021-10-20; online 2021-10-20]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
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
J. Hum. Genet. 66 (10) 995-1008 [2021-10-00; online 2021-04-20]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D, ..., Beltran S, Solve-RD Consortia
Eur. J. Hum. Genet. 29 (9) 1337-1347 [2021-09-00; online 2021-06-01]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
de Boer E, Ockeloen CW, Matalonga L, ..., Verloes A, Vissers LELM
Eur. J. Hum. Genet. 29 (9) 1359-1368 [2021-09-00; online 2021-06-01]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
Asano T, Boisson B, Onodi F, ..., Zhang Q, Casanova JL
Sci Immunol 6 (62) - [2021-08-19; online 2021-08-21]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany.
Stenzinger A, Edsjö A, Ploeger C, ..., Rosenquist R, GMS working groups and ZPM working groups
Semin. Cancer Biol. - (-) - [2021-05-24; online 2021-05-24]
Clinical Genomics [Service] Clinical Genomics Lund [Service] Clinical Genomics Stockholm [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Genotypic Characterization of Clinical Klebsiella spp. Isolates Collected From Patients With Suspected Community-Onset Sepsis, Sweden.
Saxenborn P, Baxter J, Tilevik A, ..., Enroth H, Tilevik D
Front Microbiol 12 (-) 640408 [2021-04-30; online 2021-04-30]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA, Wang T, Hoekzema K, ..., Bernier RA, Eichler EE
Genome Med 13 (1) 63 [2021-04-19; online 2021-04-19]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions.
Gong B, Li D, Kusko R, ..., Jones W, Xu J
Genome Biol. 22 (1) 109 [2021-04-16; online 2021-04-16]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
Correia SP, Moedas MF, Naess K, ..., Wedell A, Wredenberg A
Hum. Mutat. 42 (4) 378-384 [2021-04-00; online 2021-02-04]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.
Bruhn H, Samuelsson K, Schober FA, ..., Wedell A, Wredenberg A
Neurol Genet 7 (2) e566 [2021-04-00; online 2021-03-15]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).
Engvall M, Kawasaki A, Carelli V, ..., Wedell A, Träisk F
Front Neurol 12 (-) 652590 [2021-03-25; online 2021-03-25]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, ..., Lindstrand A, Wedell A
Genome Med 13 (1) 40 [2021-03-17; online 2021-03-17]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients.
Wallander K, Eisfeldt J, Lindblad M, ..., Liedén A, Tham E
PLoS ONE 16 (2) e0245488 [2021-02-04; online 2021-02-04]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Botto LD, Meeths M, Campos-Xavier B, ..., Unger S, Superti-Furga A
Am. J. Med. Genet. A 185 (2) 517-527 [2021-02-00; online 2021-01-04]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
Naess K, Bruhn H, Stranneheim H, ..., Wedell A, von Döbeln U
J Pediatr 228 (-) 240-251.e2 [2021-01-00; online 2020-08-19]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Year 2020

PubMed DOI Crossref
Molecular characteristics of eae-positive clinical Shiga toxin-producing Escherichia coli in Sweden.
Hua Y, Bai X, Zhang J, ..., Wan C, Matussek A
Emerg Microbes Infect 9 (1) 2562-2570 [2020-12-00; online 2020-11-13]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Heterozygous variants in DCC: Beyond congenital mirror movements.
Thams S, Islam M, Lindefeldt M, ..., Nilsson D, Paucar M
Neurol Genet 6 (6) e526 [2020-12-00; online 2020-10-20]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
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
J. Med. Genet. - (-) jmedgenet-2020-107385 [2020-11-18; online 2020-11-18]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.
Stödberg T, Tomson T, Barbaro M, ..., Åmark P, Wedell A
Epilepsia 61 (11) 2486-2499 [2020-11-00; online 2020-09-23]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T, Hoekzema K, Vecchio D, ..., Xia K, Eichler EE
Nat Commun 11 (1) 4932 [2020-10-01; online 2020-10-01]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Hemolytic uremic syndrome caused by Shiga toxin-producing Escherichia coli in children: incidence, risk factors, and clinical outcome.
Ylinen E, Salmenlinna S, Halkilahti J, ..., Jalanko H, Saxén H
Pediatr Nephrol 35 (9) 1749-1759 [2020-09-00; online 2020-04-22]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia.
Stödberg T, Magnusson M, Lesko N, ..., Stranneheim H, Wedell A
Neurol Genet 6 (4) e478 [2020-08-00; online 2020-07-02]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Extended-Spectrum-β-Lactamase- and Plasmid AmpC-Producing Escherichia coli Causing Community-Onset Bloodstream Infection: Association of Bacterial Clones and Virulence Genes with Septic Shock, Source of Infection, and Recurrence.
Fröding I, Hasan B, Sylvin I, ..., Nauclér P, Giske CG
Antimicrob. Agents Chemother. 64 (8) - [2020-07-22; online 2020-07-22]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Loqusdb: added value of an observations database of local genomic variation.
Magnusson M, Eisfeldt J, Nilsson D, ..., Wedell A, Stranneheim H
BMC Bioinformatics 21 (1) 273 [2020-07-01; online 2020-07-01]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Technology development] Clinical Genomics Stockholm [Technology development]
PubMed DOI Crossref
Support systems to guide clinical decision-making in precision oncology: The Cancer Core Europe Molecular Tumor Board Portal.
Tamborero D, Dienstmann R, Rachid MH, ..., Rodon J, Lehtiö J
Nat. Med. 26 (7) 992-994 [2020-07-00; online 2020-07-08]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative] Global Proteomics and Proteogenomics [Technology development]
PubMed DOI Crossref
Decreased detection of ESBL- or pAmpC-producing Escherichia coli in broiler breeders imported into Sweden.
Nilsson O, Börjesson S, Landén A, Greko C, Bengtsson B
Acta Vet. Scand. 62 (1) 33 [2020-06-22; online 2020-06-22]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
DOI Crossref
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 [Technology development] Clinical Genomics Stockholm [Technology development]
Sales of antibiotics and occurrence of resistance in Sweden
Swedres-Svarm 19088 (-) 1-128 [2020-06-09; online 2020-06-09]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Low occurrence of extended-spectrum cephalosporinase producing Enterobacteriaceae and no detection of methicillin-resistant coagulase-positive staphylococci in healthy dogs in Sweden.
Börjesson S, Gunnarsson L, Landén A, Grönlund U
Acta Vet. Scand. 62 (1) 18 [2020-04-25; online 2020-04-25]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
A link between the newly described colistin resistance gene mcr-9 and clinical Enterobacteriaceae isolates carrying blaSHV-12 from horses in Sweden.
Börjesson S, Greko C, Myrenås M, ..., Nilsson O, Pedersen K
J Glob Antimicrob Resist 20 (-) 285-289 [2020-03-00; online 2019-09-05]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Streptococcus pneumoniae Nasopharyngeal Carriage among PCV-10-Vaccinated HIV-1-Infected Children with Maintained Serological Memory in Ethiopia.
Lemma M, Bekele Y, Petkov S, ..., Howe R, Chiodi F
Pathogens 9 (3) 159 [2020-02-25; online 2020-02-25]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants.
Garcia M, Juhos S, Larsson M, ..., Käller M, Nystedt B
F1000Res 9 (-) 63 [2020-01-29; online 2020-01-29]
Bioinformatics (NBIS) [Technology development] Bioinformatics Long-term Support WABI [Technology development] Bioinformatics Support and Infrastructure [Technology development] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Technology development] Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Year 2019

PubMed DOI Crossref
Meckel syndrome: Clinical and mutation profile in six fetuses.
Radhakrishnan P, Nayak SS, Shukla A, Lindstrand A, Girisha KM
Clin. Genet. 96 (6) 560-565 [2019-12-00; online 2019-08-21]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A, Eisfeldt J, Pettersson M, ..., Lundin J, Nilsson D
Genome Med 11 (1) 68 [2019-11-07; online 2019-11-07]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Technology development] Clinical Genomics Stockholm [Technology development] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.
Jensen KV, Frid M, Stödberg T, ..., Darin N, Grønborg S
JIMD Rep 50 (1) 1-8 [2019-11-00; online 2019-09-30]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
Kvarnung M, Shahsavani M, Taylan F, ..., Lindstrand A, Falk A
Front Genet 10 (-) 896 [2019-09-24; online 2019-09-24]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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
JAMA Oncol 5 (7) 1060-1062 [2019-07-01; online 2019-05-03]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA.
Blomqvist M, Smeland MF, Lindgren J, ..., Riise Stensland HMF, Asin-Cayuela J
Cold Spring Harb Mol Case Stud 5 (3) a003954 [2019-06-00; online 2019-06-03]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Somatic alterations detected in diagnostic prostate biopsies provide an inadequate representation of multifocal prostate cancer.
Kristiansen A, Bergström R, Delahunt B, ..., Egevad L, Lindberg J
Prostate 79 (8) 920-928 [2019-06-00; online 2019-03-25]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
Maffezzini C, Laine I, Dallabona C, ..., Wredenberg A, Wedell A
Mol Genet Genomic Med 7 (6) e654 [2019-06-00; online 2019-03-28]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.
Calvo-Garrido J, Maffezzini C, Schober FA, ..., Freyer C, Wredenberg A
Stem Cell Reports 12 (4) 696-711 [2019-04-09; online 2019-02-28]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Molecular Characterization and Comparative Genomics of Clinical Hybrid Shiga Toxin-Producing and Enterotoxigenic Escherichia coli (STEC/ETEC) Strains in Sweden.
Bai X, Zhang J, Ambikan A, ..., Xiong Y, Matussek A
Sci Rep 9 (1) 5619 [2019-04-04; online 2019-04-04]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.
Grigelioniene G, Suzuki HI, Taylan F, ..., Sharp PA, Kobayashi T
Nat. Med. 25 (4) 583-590 [2019-04-00; online 2019-02-25]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.
Eisfeldt J, Pettersson M, Vezzi F, ..., Carvalho CMB, Lindstrand A
PLoS Genet. 15 (2) e1007858 [2019-02-00; online 2019-02-08]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Intra- and interpatient evolution of enterovirus D68 analyzed by whole-genome deep sequencing.
Dyrdak R, Mastafa M, Hodcroft EB, Neher RA, Albert J
Virus Evol 5 (1) vez007 [2019-01-00; online 2019-04-24]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Year 2018

PubMed DOI Crossref
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Kvarnung M, Taylan F, Nilsson D, ..., Nordgren A, Lundberg ES
Clin. Genet. 94 (6) 528-537 [2018-12-00; online 2018-10-15]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report
Lundin KE, Wang Q, Hamasy A, ..., Ekwall O, Smith CIE
BMC Pediatr 18 (1) 285 [2018-12-00; online 2018-08-29]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Cell-free DNA profiling of metastatic prostate cancer reveals microsatellite instability, structural rearrangements and clonal hematopoiesis.
Mayrhofer M, De Laere B, Whitington T, ..., Grönberg H, Lindberg J
Genome Med 10 (1) 85 [2018-11-21; online 2018-05-11]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Chorea, psychosis, acanthocytosis, and prolonged survival associated with
Paucar M, Pajak A, Freyer C, ..., Wredenberg A, Svenningsson P
Neurology 91 (15) 710-712 [2018-10-09; online 2018-09-14]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Ferreira CR, Xia ZJ, Clément A, ..., Gahl WA, Freeze HH
Am. J. Hum. Genet. 103 (4) 553-567 [2018-10-04; online 2018-10-06]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Development and Validation of a Novel RNA Sequencing-Based Prognostic Score for Acute Myeloid Leukemia.
Wang M, Lindberg J, Klevebring D, ..., Grönberg H, Rantalainen M
J. Natl. Cancer Inst. 110 (10) 1094-1101 [2018-10-01; online 2018-03-06]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
Pettersson M, Vaz R, Hammarsjö A, ..., Grigelioniene G, Lindstrand A
Hum. Mutat. 39 (10) 1456-1467 [2018-10-00; online 2018-08-22]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
TP53 outperforms other androgen receptor biomarkers to predict abiraterone or enzalutamide outcome in metastatic castration-resistant prostate cancer.
De Laere B, Oeyen S, Mayrhofer M, ..., Lindberg J, Dirix LY
Clin. Cancer Res. - (-) - [2018-09-12; online 2018-09-12]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
DOI Crossref
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 [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Characterization of Swedish Campylobacter coli clade 2 and clade 3 water isolates.
Nilsson A, Skarp A, Johansson C, ..., Engstrand L, Rautelin H
Microbiologyopen 7 (4) e00583 [2018-08-00; online 2018-02-09]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information.
Tham E, Grigelionis G, Hammarsjö A, Grigelioniene G
J. Bone Miner. Res. 33 (7) 1377-1378 [2018-07-00; online 2018-06-07]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1.
Darin N, Leckström K, Sikora P, ..., Almén G, Asin-Cayuela J
Eur. J. Hum. Genet. 26 (6) 808-817 [2018-06-00; online 2018-02-26]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Expression levels of long non-coding RNAs are prognostic for AML outcome.
Mer AS, Lindberg J, Nilsson C, ..., Lehmann S, Rantalainen M
J Hematol Oncol 11 (1) 52 [2018-04-07; online 2018-04-07]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, ..., Vandeweyer G, Kooy RF
Biol. Psychiatry - (-) - [2018-03-15; online 2018-03-15]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.
Tran AN, Taylan F, Zachariadis V, ..., Nilsson D, Barbany G
PLoS ONE 13 (3) e0193928 [2018-03-12; online 2018-03-12]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Differential impact of RB status on E2F1 reprogramming in human cancer.
McNair C, Xu K, Mandigo AC, ..., Brown M, Knudsen KE
J. Clin. Invest. 128 (1) 341-358 [2018-01-02; online 2017-12-04]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Year 2017

PubMed DOI Crossref
Genomic and phenotypic characteristics of Swedish C. jejuni water isolates.
Nilsson A, Johansson C, Skarp A, ..., Engstrand L, Rautelin H
PLoS ONE 12 (12) e0189222 [2017-12-07; online 2017-12-07]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C.
Sundin M, Uhlin M, Gaballa A, ..., Marits P, Nilsson J
Pediatr Allergy Immunol - (-) - [2017-10-05; online 2017-10-05]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Validation of risk stratification models in acute myeloid leukemia using sequencing-based molecular profiling.
Wang M, Lindberg J, Klevebring D, ..., Lehmann S, Grönberg H
Leukemia 31 (10) 2029-2036 [2017-10-00; online 2017-02-07]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Bioinformatory-assisted analysis of next-generation sequencing data for precision medicine in pancreatic cancer.
Malgerud L, Lindberg J, Wirta V, ..., Grönberg H, Löhr JM
Mol Oncol 11 (10) 1413-1429 [2017-10-00; online 2017-08-08]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Comprehensive Profiling of the Androgen Receptor in Liquid Biopsies from Castration-resistant Prostate Cancer Reveals Novel Intra-AR Structural Variation and Splice Variant Expression Patterns.
De Laere B, van Dam PJ, Whitington T, ..., Grönberg H, Lindberg J
Eur. Urol. 72 (2) 192-200 [2017-08-00; online 2017-01-16]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.
Eisfeldt J, Vezzi F, Olason P, Nilsson D, Lindstrand A
F1000Res 6 (-) 664 [2017-05-10; online 2017-05-10]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Profile of Ductal Adenocarcinoma of the Prostate.
Seipel AH, Whitington T, Delahunt B, ..., Lindberg J, Egevad L
Hum. Pathol. - (-) - [2017-04-27; online 2017-04-27]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
Tegelberg S, Tomašić N, Kallijärvi J, ..., Eklund EA, Fellman V
Orphanet J Rare Dis 12 (1) 73 [2017-04-20; online 2017-04-20]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, ..., Cammenga J, Bryceson YT
Blood 129 (16) 2266-2279 [2017-04-20; online 2017-02-15]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
Grigelioniene G, Nevalainen PI, Reyes M, ..., Mäkitie O, Jüppner H
J. Bone Miner. Res. 32 (4) 776-783 [2017-04-00; online 2017-02-24]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Stool frequency is associated with gut microbiota composition.
Hadizadeh F, Walter S, Belheouane M, ..., Franke A, D'Amato M
Gut 66 (3) 559-560 [2017-03-00; online 2016-05-20]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Nilsson D, Pettersson M, Gustavsson P, ..., Carvalho CMB, Lindstrand A
Hum. Mutat. 38 (2) 180-192 [2017-02-00; online 2016-12-05]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.
Bramswig NC, Lüdecke HJ, Pettersson M, ..., Kleefstra T, Wieczorek D
Hum. Genet. 136 (2) 179-192 [2017-02-00; online 2016-11-15]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Year 2016

PubMed DOI Crossref
Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.
Henström M, Diekmann L, Bonfiglio F, ..., Naim HY, D'Amato M
Gut - (-) - [2016-11-21; online 2016-11-21]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Kapferer-Seebacher I, Pepin M, Werner R, ..., Byers PH, Zschocke J
Am. J. Hum. Genet. 99 (5) 1005-1014 [2016-11-03; online 2016-10-18]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians.
Asad S, Winge MC, Wahlgren CF, ..., Taylan F, Bradley M
J Eur Acad Dermatol Venereol 30 (11) 1939-1941 [2016-11-00; online 2016-10-25]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.
Kostareva A, Kiselev A, Gudkova A, ..., Sejersen T, Shlyakhto E
PLoS ONE 11 (9) e0163362 [2016-09-23; online 2016-09-23]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Haack TB, Ignatius E, Calvo-Garrido J, ..., Carroll CJ, Klopstock T
Am. J. Hum. Genet. 99 (3) 735-743 [2016-09-01; online 2016-08-23]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia.
Ivanov Öfverholm I, Tran AN, Olsson L, ..., Nordgren A, Barbany G
Leuk. Lymphoma 57 (9) 2161-2170 [2016-09-00; online 2016-04-20]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Draft Genome Sequence of Moraxella catarrhalis Type Strain CCUG 353T.
Jakobsson HE, Salvà-Serra F, Thorell K, ..., Kristiansson E, Moore ERB
Genome Announc 4 (3) e00552-16 [2016-06-16; online 2016-06-16]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Stockholm [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.
Ygberg S, Naess K, Eriksson M, ..., Wedell A, Wickström R
Eur. J. Paediatr. Neurol. 20 (3) 457-461 [2016-05-00; online 2016-03-16]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Stessman HA, Willemsen MH, Fenckova M, ..., Eichler EE, Kleefstra T
Am. J. Hum. Genet. 98 (3) 541-552 [2016-03-03; online 2016-03-05]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Exome sequencing in one family with gastric- and rectal cancer.
Thutkawkorapin J, Picelli S, Kontham V, ..., Nilsson D, Lindblom A
BMC Genet. 17 (-) 41 [2016-02-13; online 2016-02-13]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Tham E, Eklund EA, Hammarsjö A, ..., Nishimura G, Grigelioniene G
Eur J Hum Genet 24 (2) 198-207 [2016-02-00; online 2015-05-13]
Clinical Genomics Clinical Genomics Stockholm
PubMed DOI Crossref
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 [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.
Hammarsjö A, Nordgren A, Lagerstedt-Robinson K, ..., Nishimura G, Grigelioniene G
Am. J. Med. Genet. A 170A (1) 266-269 [2016-01-00; online 2015-10-01]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders.
Stranneheim H, Wedell A
J. Intern. Med. 279 (1) 3-15 [2016-01-00; online 2015-08-08]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Composition of human faecal microbiota in resistance to Campylobacter infection.
Kampmann C, Dicksved J, Engstrand L, Rautelin H
Clin. Microbiol. Infect. 22 (1) 61.e1-61.e8 [2016-01-00; online 2015-09-16]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Year 2015

PubMed DOI Crossref
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Kishita Y, Pajak A, Bolar NA, ..., Okazaki Y, Wedell A
Am. J. Hum. Genet. 97 (5) 761-768 [2015-11-05; online 2015-11-03]
Clinical Genomics Clinical Genomics Stockholm NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
Freyer C, Stranneheim H, Naess K, ..., Wredenberg A, Wedell A
J. Med. Genet. 52 (11) 779-783 [2015-11-00; online 2015-06-19]
Clinical Genomics Clinical Genomics Stockholm NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Dormant phages of Helicobacter pylori reveal distinct populations in Europe.
Vale FF, Vadivelu J, Oleastro M, ..., Mégraud F, Lehours P
Sci Rep 5 (-) 14333 [2015-09-21; online 2015-09-21]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Stödberg T, McTague A, Ruiz AJ, ..., Wedell A, Kurian MA
Nat Commun 6 (-) 8038 [2015-09-03; online 2015-09-03]
Clinical Genomics Clinical Genomics Stockholm NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
CTNND2-a candidate gene for reading problems and mild intellectual disability.
Hofmeister W, Nilsson D, Topa A, ..., Syk Lundberg E, Lindstrand A
J. Med. Genet. 52 (2) 111-122 [2015-02-00; online 2014-12-05]
Clinical Genomics Clinical Genomics Stockholm NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
SciLifeLab Data Centre
Publications 9.5.1