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References from Proximity-mapped whole-genome sequencing for characterization of repeat expansions and variants in highly homologous genomic regions. Local targets link to admitted publications; unresolved targets remain external evidence.
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2020 · External reference
100,000 Genomes Pilot on Rare-Disease Diagnosis
2021 · External reference
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2018 · External reference
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2016 · External reference
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2015 · External reference
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2021 · External reference
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2018 · External reference
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2013 · External reference
The myotonic dystrophies: molecular, clinical, and therapeutic challenges
10.1016/s1474-4422(12)70204-1 · 2012 · External reference
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2024 · External reference
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2012 · External reference
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2017 · External reference
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2018 · External reference
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2024 · External reference
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2023 · External reference
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2023 · External reference
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene
10.1055/a-1108-1419 · 2021 · External reference
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2024 · External reference
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2025 · External reference
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2026 · External reference
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2023 · External reference
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2023 · External reference
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing
10.1093/clinchem/hvac046 · 2022 · External reference
10.1038/s41525-026-00610-y
10.1038/s41525-026-00610-y · External reference
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1996 · External reference
10.1093/nar/gnf056
10.1093/nar/gnf056 · External reference
