Lindstrand A

Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63.

Pekkola Pacheco N, Pettersson M, Lindstrand A, Grigelioniene G

Am. J. Med. Genet. A 191 (7) 1929-1934 [2023-07-00; online 2023-04-05]

Clinical Genomics Stockholm [Service]

Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.

Grudzinska Pechhacker MK, Molnar A, Pekkola Pacheco N, ..., Nordgren A, Lindstrand A

Ophthalmic Genet - (-) 1-8 [2023-05-29; online 2023-05-29]

Clinical Genomics Stockholm [Service]

Implementing precision medicine in a regionally organized healthcare system in Sweden.

Fioretos T, Wirta V, Cavelier L, ..., Edsjö A, Rosenquist R

Nat. Med. 28 (10) 1980-1982 [2022-10-00; online 2022-09-20]

Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Linköping [Service] Clinical Genomics Stockholm [Collaborative] Clinical Genomics Umeå [Service] Clinical Genomics Uppsala [Collaborative]

Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.

Eisfeldt J, Schuy J, Stattin EL, ..., Feuk L, Lindstrand A

Int J Mol Sci 23 (16) - [2022-08-20; online 2022-08-20]

Bioinformatics Support for Computational Resources [Service] NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.

Rasi C, Nilsson D, Magnusson M, ..., Wirta V, Stranneheim H

Hum. Mutat. 43 (6) 708-716 [2022-06-00; online 2022-03-07]

Clinical Genomics Stockholm [Technology development]

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

Hammarsjö A, Pettersson M, Chitayat D, ..., Lindstrand A, Grigelioniene G

J. Hum. Genet. 66 (10) 995-1008 [2021-10-00; online 2021-04-20]

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

Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier.

Eisfeldt J, Pettersson M, Petri A, ..., Feuk L, Lindstrand A

Hum. Genet. 140 (5) 775-790 [2021-05-00; online 2020-12-14]

Bioinformatics Support for Computational Resources [Service] NGI Long read [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H, Lagerstedt-Robinson K, Magnusson M, ..., Lindstrand A, Wedell A

Genome Med 13 (1) 40 [2021-03-17; online 2021-03-17]

Clinical Genomics Stockholm [Collaborative]

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]

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T, Hoekzema K, Vecchio D, ..., Xia K, Eichler EE

Nat Commun 11 (1) 4932 [2020-10-01; online 2020-10-01]

Clinical Genomics Stockholm [Service]

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.

Dahl S, Pettersson M, Eisfeldt J, ..., Anderlid BM, Lindstrand A

PLoS ONE 15 (2) e0228622 [2020-02-10; online 2020-02-10]

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

Discovery of Novel Sequences in 1,000 Swedish Genomes.

Eisfeldt J, Mårtensson G, Ameur A, Nilsson D, Lindstrand A

Mol. Biol. Evol. 37 (1) 18-30 [2020-01-01; online 2019-09-29]

Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

Lindstrand A, Eisfeldt J, Pettersson M, ..., Lundin J, Nilsson D

Genome Med 11 (1) 68 [2019-11-07; online 2019-11-07]

Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics Stockholm [Technology development] 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]

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

Nazaryan-Petersen L, Eisfeldt J, Pettersson M, ..., Tümer Z, Lindstrand A

PLoS Genet. 14 (11) e1007780 [2018-11-00; online 2018-11-12]

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