Tham E

Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma.

Arthur C, Jylhä C, de Ståhl TD, ..., Sandvik U, Tham E

Cancers (Basel) 15 (7) - [2023-03-25; online 2023-03-25]

Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

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 Stockholm [Collaborative]

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 Stockholm [Service]

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

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 Stockholm [Service]

Exome sequencing in 51 early onset non-familial CRC cases.

Thutkawkorapin J, Lindblom A, Tham E

Mol Genet Genomic Med 7 (5) e605 [2019-05-00; online 2019-02-27]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]