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Sanna Gudmundsson

A genomic mutational constraint map using variation in 76,156 human genomes
2023 · Siwei Chen, Laurent C. Francioli, et al. · Nature · 1,692
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Variant interpretation using population databases: Lessons from gnomAD
2021 · Sanna Gudmundsson, Moriel Singer‐Berk, et al. · Human Mutation · 674
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
2024 · Siwei Chen, Laurent C. Francioli, et al. · Nature · 206
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Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
2023 · Monica H. Wojcik, Chloe M. Reuter, et al. · The American Journal of Human Genetics · 125
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Centers for Mendelian Genomics: A decade of facilitating gene discovery
2022 · Samantha M. Baxter, Jennifer E. Posey, et al. · Genetics in Medicine · 72
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
2023 · Alicia B. Byrne, Peer Arts, et al. · Nature Medicine · 66
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Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
2020 · Ida Höijer, Josefin Johansson, et al. · Genome biology · 62
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Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
2021 · Sanna Gudmundsson, Konrad J. Karczewski, et al. · Nature · 55
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TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish
2019 · Sanna Gudmundsson, Maria Wilbe, et al. · Scientific Reports · 46
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A nonsense mutation in CEP55 defines a new locus for a Meckel‐like syndrome, an autosomal recessive lethal fetal ciliopathy
2017 · M.‐L. Bondeson, K. Ericson, et al. · Clinical Genetics · 42
A form of muscular dystrophy associated with pathogenic variants in JAG2
2021 · Sandra Coppens, Alison M. Barnard, et al. · The American Journal of Human Genetics · 39
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Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
2020 · Lianne C. Krab, Iñigo Marcos-Alcalde, et al. · Human Genetics · 38
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Inferring compound heterozygosity from large-scale exome sequencing data
2023 · Michael H. Guo, Laurent C. Francioli, et al. · Nature Genetics · 35
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Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26
2017 · Sanna Gudmundsson, Maria Wilbe, et al. · Human Molecular Genetics · 30
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Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
2025 · Sanna Gudmundsson, Moriel Singer-Berk, et al. · Nature Communications · 28
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Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data
2023 · Moriel Singer-Berk, Sanna Gudmundsson, et al. · The American Journal of Human Genetics · 28
A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
2017 · Maria Wilbe, Sanna Gudmundsson, et al. · Prenatal Diagnosis · 24
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A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing
2023 · Josefin Johansson, Sarah Lidéus, et al. · Scientific Reports · 23
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GREGoR: accelerating genomics for rare diseases
2025 · Moez Dawood, Ben Heavner, et al. · Nature · 21
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Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis
2022 · Josefin Johansson, Carina Frykholm, et al. · American Journal of Medical Genetics Part A · 21
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A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature
2018 · Sanna Gudmundsson, Göran Annerén, et al. · European Journal of Medical Genetics · 17
Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease
2016 · Hans Matsson, Cilla Söderhäll, et al. · BMC Pulmonary Medicine · 17
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Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
2024 · Jessica X. Chong, Jessica X. Chong, et al. · Genetics in Medicine · 16
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Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
2023 · Josefin Johansson, Sarah Lidéus, et al. · European Journal of Human Genetics · 14
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A form of muscular dystrophy associated with pathogenic variants in JAG2
2021 · Sandra Coppens, Alison M. Barnard, et al. · The American Journal of Human Genetics · 11
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Works count: 66
Citation count: 3,427
H-index: 20
I10-index: 25
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