Hum. Genet.

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]

Affiliated researcher

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

Bramswig NC, Lüdecke HJ, Pettersson M, ..., Kleefstra T, Wieczorek D

Hum. Genet. 136 (2) 179-192 [2017-02-00; online 2016-11-15]

Affiliated researcher

The disappearing San of southeastern Africa and their genetic affinities.

Schlebusch CM, Prins F, Lombard M, Jakobsson M, Soodyall H

Hum. Genet. 135 (12) 1365-1373 [2016-12-00; online 2016-09-20]

Affiliated researcher

Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression.

Cavalli M, Pan G, Nord H, ..., Lindblad Toh K, Wadelius C

Hum. Genet. 135 (5) 485-497 [2016-05-00; online 2016-03-18]

Affiliated researcher

Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.

Einarsdottir E, Svensson I, Darki F, ..., Kere J, Matsson H

Hum. Genet. 134 (11-12) 1239-1248 [2015-11-00; online 2015-09-23]

Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data.

Hu M, Ayub Q, Guerra-Assunção JA, ..., Tyler-Smith C, Xue Y

Hum. Genet. 131 (5) 665-674 [2012-05-00; online 2011-11-05]