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De novo variants in DENND5B cause a neurodevelopmental disorder.
Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21.
Am J Hum Genet. 2024.
PMID: 38387458
Free PMC article.
Participation in a national diagnostic research study: assessing the patient experience.
Rosenfeld LE, LeBlanc K, Nagy A, Ego BK; Undiagnosed Diseases Network; McCray AT.
Rosenfeld LE, et al.
Orphanet J Rare Dis. 2023 Apr 10;18(1):73. doi: 10.1186/s13023-023-02695-5.
Orphanet J Rare Dis. 2023.
PMID: 37032333
Free PMC article.
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LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.
Lu J, Toro C, Adams DR; Undiagnosed Diseases Network; Moreno CAM, Lee WP, Leung YY, Harms MB, Vardarajan B, Heinzen EL.
Lu J, et al.
BMC Genomics. 2024 Jan 26;25(1):115. doi: 10.1186/s12864-023-09935-9.
BMC Genomics. 2024.
PMID: 38279154
Free PMC article.
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