Lindstrand A

Flexible and rapid validation of structural variation using adaptive sampling

Feuk L, Paivandy A, Lenner F, ..., Lindstrand A, Scherer S

- - (-) - [2025-09-11; online 2025-09-11]

Toward clinical long-read genome sequencing for rare diseases.

Eisfeldt J, Ek M, Nordenskjöld M, Lindstrand A

Nat. Genet. 57 (6) 1334-1343 [2025-06-00; online 2025-05-07]

Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder.

Verrecchia L, Alm V, Thonberg H, ..., Nilsson D, Paucar M

Neurol Genet 11 (1) e200238 [2025-02-00; online 2025-01-16]

Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements

Eisfeldt J, Ameur A, Lenner F, ..., Feuk L, Lindstrand A

- - (-) - [2023-12-17; online 2023-12-17]

Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation.

Eisfeldt J, Rezayee F, Pettersson M, ..., Grigelioniene G, Lindstrand A

Hum. Mutat. 43 (11) 1567-1575 [2022-11-00; online 2022-07-23]

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Lowther C, Mehrjouy MM, Collins RL, ..., Talkowski ME, Tommerup N

- - (-) - [2022-02-16; online 2022-02-16]

Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma

Peña-Pérez L, Frengen N, Hauenstein J, ..., Lindstrand A, Månsson R

- - (-) - [2021-12-09; online 2021-12-09]

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia

Bieder A, Einarsdottir E, Matsson H, ..., Kere J, Tapia-Páez I

- - (-) - [2020-03-31; online 2020-03-31]