Pehlivan D

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Pehlivan D, Bengtsson JD, Bajikar SS, ..., Zoghbi HY, Carvalho CMB

Genome Med 16 (1) 146 [2024-12-18; online 2024-12-18]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci.

Grochowski CM, Bengtsson JD, Du H, ..., Lupski JR, Carvalho CMB

Cell Genomics 4 (7) 100590 [2024-07-10; online 2024-06-21]

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