| Variant interpretation using population databases: Lessons from gnomAD S Gudmundsson, M Singer‐Berk, NA Watts, W Phu, JK Goodrich, ... Human mutation 43 (8), 1012-1030, 2022 | 406 | 2022 |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 64 | 2023 |
| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 60 | 2022 |
| Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans S Gudmundsson, KJ Karczewski, LC Francioli, G Tiao, BB Cummings, ... Nature 597 (7874), E3-E4, 2021 | 45 | 2021 |
| Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity I Höijer, J Johansson, S Gudmundsson, CS Chin, I Bunikis, S Häggqvist, ... Genome Biology 21, 1-19, 2020 | 45 | 2020 |
| Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 LC Krab, I Marcos-Alcalde, M Assaf, M Balasubramanian, JB Andersen, ... Human genetics 139 (5), 575-592, 2020 | 45 | 2020 |
| TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish S Gudmundsson, M Wilbe, B Filipek-Górniok, AM Molin, S Ekvall, ... Scientific Reports 9 (1), 10730, 2019 | 41 | 2019 |
| A nonsense mutation in CEP55 defines a new locus for a Meckel‐like syndrome, an autosomal recessive lethal fetal ciliopathy ML Bondeson, K Ericson, S Gudmundsson, A Ameur, F Pontén, ... Clinical genetics 92 (5), 510-516, 2017 | 40 | 2017 |
| Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26 S Gudmundsson, M Wilbe, S Ekvall, A Ameur, N Cahill, LB Alexandrov, ... Human molecular genetics 26 (6), 1070-1077, 2017 | 32 | 2017 |
| A form of muscular dystrophy associated with pathogenic variants in JAG2 S Coppens, AM Barnard, S Puusepp, S Pajusalu, K Õunap, ... The American Journal of Human Genetics 108 (5), 840-856, 2021 | 30 | 2021 |
| A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders M Wilbe, S Gudmundsson, J Johansson, A Ameur, EL Stattin, G Annerén, ... Prenatal diagnosis 37 (11), 1146-1154, 2017 | 25 | 2017 |
| Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease H Matsson, C Söderhäll, E Einarsdottir, M Lamontagne, S Gudmundsson, ... BMC pulmonary medicine 16, 1-10, 2016 | 16 | 2016 |
| Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data M Singer-Berk, S Gudmundsson, S Baxter, EG Seaby, E England, ... The American Journal of Human Genetics 110 (9), 1496-1508, 2023 | 15 | 2023 |
| Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis J Johansson, C Frykholm, K Ericson, K Kazamia, A Lindberg, N Mulaiese, ... American Journal of Medical Genetics Part A 188 (6), 1676-1687, 2022 | 15 | 2022 |
| A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4–review of the literature S Gudmundsson, G Annerén, Í Marcos-Alcalde, M Wilbe, M Melin, ... European Journal of Medical Genetics 62 (6), 103526, 2019 | 15 | 2019 |
| A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing J Johansson, S Lidéus, I Höijer, A Ameur, S Gudmundsson, G Annerén, ... Scientific reports 13 (1), 12856, 2023 | 12 | 2023 |
| A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases EL Stattin, J Johansson, S Gudmundsson, A Ameur, S Lundberg, ... American Journal of Medical Genetics Part A 176 (6), 1405-1410, 2018 | 9 | 2018 |
| Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions J Johansson, S Lidéus, C Frykholm, C Gunnarsson, F Mihalic, ... European Journal of Human Genetics 32 (3), 333-341, 2024 | 8 | 2024 |
| Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database S Gudmundsson, M Singer-Berk, SL Stenton, JK Goodrich, MW Wilson, ... bioRxiv, 2024 | 5 | 2024 |
| Interpreting variants in genes affected by clonal hematopoiesis in population data S Gudmundsson, CM Carlston, A O’Donnell-Luria Human Genetics 143 (4), 545-549, 2024 | 5 | 2024 |
