Taylan F

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 194 (12) - [2024-12-00; online 2024-07-11]

Clinical Genomics Stockholm [Service]

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]

Clinical Genomics Gothenburg [Service] Clinical Genomics Stockholm [Service] NGI Long read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

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 Stockholm [Collaborative]

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]

NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

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 [Service] NGI Short read [Collaborative] NGI Stockholm (Genomics Production) [Collaborative] National Genomics Infrastructure [Collaborative]

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 Stockholm [Service]

Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.

Muurinen M, Taylan F, Tournis S, ..., Mäkitie O, Costantini A

JBMR Plus 6 (8) e10660 [2022-08-00; online 2022-07-05]

NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

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

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]

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]

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