| Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci CM Grochowski, JD Bengtsson, H Du, M Gandhi, MY Lun, MG Mehaffey, ... Cell Genomics, 2024 | | 2024 |
| A combination of long and short read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements J Schuy, KB Sæther, J Lisfeld, M Ek, CM Grochowski, MY Lun, A Hastie, ... Genetics in Medicine Open, 101863, 2024 | | 2024 |
| Whole‐genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting E Westenius, P Conner, M Pettersson, E Sahlin, N Papadogiannakis, ... Ultrasound in Obstetrics & Gynecology 63 (5), 658-663, 2024 | 2 | 2024 |
| Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation E ten Berk de Boer, A Ameur, I Bunikis, M Ek, EL Stattin, L Feuk, J Eisfeldt, ... Scientific Reports 14 (1), 9000, 2024 | | 2024 |
| Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1 MK Grudzinska Pechhacker, A Molnar, N Pekkola Pacheco, H Thonberg, ... Ophthalmic Genetics 45 (1), 95-102, 2024 | 1 | 2024 |
| Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing J Wincent, HT Helgadóttir, F Sergouniotis, A Salazar Mantero, ... Acta Obstetricia et Gynecologica Scandinavica, 2024 | | 2024 |
| Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions K Bilgrav Saethe, J Eisfeldt, J Bengtsson, MY Lun, CM Grochowski, ... medRxiv, 2024.04. 22.24305780, 2024 | | 2024 |
| Long-read genome sequencing required to resolve complex chromosomal rearrangements involving both the short and the long arm of chromosome 21 J Schuy, KB Saether, J Lisfeld, M Ek, CM Grochowski, S Rudolph, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 606-606, 2024 | | 2024 |
| Clinical validation of RNA-seq to complement whole-genome sequencing J Carlsten, H Thonberg, EB de Boer, A Jemt, J Eisfeldt, A Lindstrand EUROPEAN JOURNAL OF HUMAN GENETICS 32, 629-629, 2024 | | 2024 |
| A single centre experience of personalised functional studies in rare diseases R Vaz, A Lindstrand EUROPEAN JOURNAL OF HUMAN GENETICS 32, 689-689, 2024 | | 2024 |
| Multiomic profiling unravels disease mechanisms in complex chromosomal rearrangement carriers with autism spectrum disorder J Eisfeldt, T Higginbotham, A Lindstrand, S Scherer, L Feuk EUROPEAN JOURNAL OF HUMAN GENETICS 32, 472-473, 2024 | | 2024 |
| Blood transcriptome database to detect aberrant splicing in rare disease diagnostics EB de Boer, H Thonberg, J Carlsten, A Jemt, J Eisfeldt, A Lindstrand EUROPEAN JOURNAL OF HUMAN GENETICS 32, 643-643, 2024 | | 2024 |
| Resolving ring chromosomes with long read sequencing KB Saether, M Ek, A Lindstrand, J Eisfeldt EUROPEAN JOURNAL OF HUMAN GENETICS 32, 603-604, 2024 | | 2024 |
| In trans reciprocal deletion and duplication of the NXN gene causing Robinow syndrome escaping routine diagnostic testing S Berland, E Bratland, L Hjertnes, T Baroy, A Lindstrand, C Carvalho EUROPEAN JOURNAL OF HUMAN GENETICS 32, 539-539, 2024 | | 2024 |
| Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with neuromuscular disorders M Ek, D Nilsson, M Engvall, H Malmgren, H Thonberg, M Pettersson, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 523-524, 2024 | | 2024 |
| Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements J Eisfeldt, A Ameur, F Lenner, ET Berk de Boer, M Ek, J Wincent, R Vaz, ... medRxiv, 2023.12. 15.23299892, 2023 | | 2023 |
| A national pilot study: Clinical long-read sequencing of chromosomal rearrangements J Eisfeldt, A Ameur, F Lenner, E ten Berk de Boer, M Ek, J Wincent, R Vaz, ... | | 2023 |
| EP11. 03: Whole‐genome sequencing for prenatal diagnosis of congenital malformations: a prospective cohort study in a clinical setting P Conner, E Westenius, E Sahlin, N Papadogiannakis, A Lindstrand, ... Ultrasound in Obstetrics & Gynecology 62, 159-159, 2023 | | 2023 |
| Precision medicine in rare diseases: What is next? B Tesi, C Boileau, KM Boycott, G Canaud, M Caulfield, D Choukair, S Hill, ... Journal of Internal Medicine 294 (4), 397-412, 2023 | 16 | 2023 |
| Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report K De Geer, K Mascianica, K Naess, E Sardh, A Lindstrand, E Björck BMC ophthalmology 23 (1), 394, 2023 | | 2023 |
