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Nordgren A

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Family name Nordgren
Given name Ann
Initials A
ORCID

ORCID 0000-0003-3285-4281
Affiliations Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

8 publications

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. - (-) - [2024-10-21; online 2024-10-21]
NGI SNP genotyping [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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 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 Stockholm [Collaborative] NGI Short read [Collaborative] NGI Stockholm (Genomics Production) [Collaborative] National Genomics Infrastructure [Collaborative]
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 Gothenburg [Collaborative] Clinical Genomics Linköping [Service] Clinical Genomics Stockholm [Collaborative] Clinical Genomics Umeå [Service] Clinical Genomics Uppsala [Collaborative]
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 Stockholm [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
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 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 Stockholm [Service]
PubMed DOI Crossref
Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia.
Ivanov Öfverholm I, Zachariadis V, Taylan F, ..., Nordlund J, Barbany G
Leuk. Lymphoma 61 (3) 604-613 [2020-03-00; online 2019-10-22]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
SciLifeLab Data Centre
Publications 9.5.1