Lupski JR

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]

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.

Zhao S, Zhang Y, Hallgrimsdottir S, ..., Grigelioniene G, Wu N

npj Genom. Med. 7 (1) 11 [2022-02-15; online 2022-02-15]

Clinical Genomics Stockholm [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]

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.

Plesser Duvdevani M, Pettersson M, Eisfeldt J, ..., Lindstrand A, Harel T

Am. J. Med. Genet. A 182 (5) 1143-1151 [2020-05-00; online 2020-03-03]

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