Optical Genome Mapping Enables Accurate Testing of Large Repeat Expansions.
Bart van der Sanden,Kornelia Neveling, Syukri Shukor, Michael D Gallagher,Joyce Lee, Stephanie L Burke,Maartje Pennings, Ronald van Beek, Michiel Oorsprong, Ellen Kater-Baats, Eveline Kamping, Alide A Tieleman, Nicol C Voermans,Ingrid E Scheffer,Jozef Gecz,Mark A Corbett,Lisenka E L M Vissers,Andy Wing Chun Pang,Alex Hastie, Erik-Jan Kamsteeg,Alexander Hoischen Genome research（2025）
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