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Clinical application of Complete Long Read genome sequencing identifies a 16kb intragenic duplication in EHMT1 in a patient with suspected Kleefstra syndrome

John E Gorzynski,Shruti Marwaha,Chloe M Reuter,Tanner Jensen, Alexis Ferrasse,Archana Raja,Liliana Fernandez,Elijah Kravets, Jennefer Carter,Devon Bonner,Shirley Sutton, Undiagnosed Diseases Network (UDN),Maura Ruzhnikov, Louanna Hudgins,Paul G Fisher,Jonathan Bernstein,Matthew T Wheeler,Euan A Ashley

medrxiv（2024）

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