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The Journal of Molecular Diagnostics : JMD|January 5, 2025
Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman SyndromesCate R Paschal, Miranda P G Zalusky, Anita E Beck, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|January 16, 2026
Complex Genetics in Somatic Mosaic Disorders: Evaluating the Rate of Multiple "Hits" in Non-Malignant LesionsBrian Nguyen, Madelyn A Gillentine, Candace T Myers, et al.
Elife|August 28, 2015
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylationVincenzo A Gennarino, Callison E Alcott, Chun-An Chen, et al.
Human Mutation|January 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiencyYoel Gofin, Tianyun Wang, Madelyn A Gillentine, et al.
Annals of Clinical and Translational Neurology|May 17, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndromeJonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, et al.
Biorxiv : the Preprint Server for Biology|February 17, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Neurology. Genetics|August 10, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
American Journal of Human Genetics|August 4, 2023
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorderEva Niggl, Arjan Bouman, Lauren C Briere, et al.
Rare (Amsterdam, Netherlands)|October 18, 2024
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataractsElizabeth E Blue, Samuel J Huang, Alyna Khan, et al.
Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.
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