| Targeted long-read sequencing identifies a novel 1.3 kb FGG deletion associated with variable bleeding and thrombotic phenotypes in hypofibrinogenemia | Research and practice in thrombosis and haemostasis |  | | 2026 | 3 | 12 |
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| Adult Onset Nephrotic Syndrome and Optic Nerve Atrophy Associated With NUP93 Mutation | Kidney medicine | | | 2025 | 25 | 82 |
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| Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | npj genomic medicine | | | 2024 | 22 | 24 |
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| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | | 2023 | 203 | 217 |
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| Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster | Haemophilia |  | | 2022 | 251 | 2 |
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| A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family | Haematologica | | | 2022 | 354 | 356 |
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| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | | 2021 | 176 | 126 |
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