Taylan F

Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare.

Kämpe A, Gudmundsson S, Walsh CP, ..., Lindstrand A, Lappalainen T

Nat. Med. 31 (6) 1730-1732 [2025-06-00; online 2025-04-05]

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]

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]

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 Precis Oncol 7 (-) e2300039 [2023-06-00; online 2023-06-29]

A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy.

Ygberg S, Akkuratov EE, Howard RJ, ..., Brismar H, Aperia A

J Biol Chem 297 (6) 101355 [2021-12-00; online 2021-10-28]

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]

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]

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.

Frisk S, Taylan F, Blaszczyk I, ..., Laurell T, Nordgren A

Clin. Genet. 96 (2) 118-125 [2019-08-00; online 2019-05-09]

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]

Front Cover

Kvarnung M, Taylan F, Nilsson D, ..., Nordgren A, Lundberg ES

Clin. Genet. 94 (6) - [2018-12-00; online 2018-11-14]