Hum Genet

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 Stockholm [Service]

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]

Loss of chromosome Y (LOY) in blood cells is associated with increased risk for disease and mortality in aging men

Forsberg LA

Hum Genet 136 (5) 657-663 [2017-05-00; online 2017-04-19]

NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]