Carvalho CMB

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]

Cytogenetically visible inversions are formed by multiple molecular mechanisms.

Pettersson M, Grochowski CM, Wincent J, ..., Carvalho CMB, Lindstrand A

Hum. Mutat. 41 (11) 1979-1998 [2020-11-00; online 2020-10-01]

Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.

Zhang C, Mazzeu JF, Eisfeldt J, ..., Sutton VR, Carvalho CMB

Am. J. Med. Genet. A - (-) - [2020-10-13; online 2020-10-13]

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

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.

Eisfeldt J, Pettersson M, Vezzi F, ..., Carvalho CMB, Lindstrand A

PLoS Genet. 15 (2) e1007858 [2019-02-00; online 2019-02-08]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]