ACMG2026 poster<\/a> presentation “De novo GLUL <\/i>missense variant in individual with neurodevelopmental\u00a0disorder prompts ClinGen gene curation, ClinVar submission, and new GeneMatcher cohort”<\/p>\n Foss KS, Sneddon TP, Fensterle EP, et al. Expanding access to genomic analysis and reporting in research studies: The GENYSIS research core. Journal of Clinical and Translational Science. 2026;10(1):e54. PMID: <\/span>41960595<\/a>.<\/span><\/p>\n Sneddon TP, Melville SA, Xiong M, Foss K, Cardwell EB, Rafferty K, Weck KE, Berglind A, Heinzen EL, Tedder ML, Gucsavas-Calikoglu M, Shiloh-Malawsky Y, Fan ZJ, Powell BC, Hunter SE. Long-Read Sequencing of a Neurodevelopmental Disorder Patient Reveals Complex Rearrangement Involving the ARID1B<\/em> Gene. Am J Med Genet A. 2026 Feb;200(2):426-431. PMID: 40931928<\/a>.<\/p>\n SNCURCS2025 poster<\/a> presentation “Assessing the Clinical Relevance ofGenetic Variants Associated with Chronic Kidney Disease in Hispanic\/Latino Individuals”<\/p>\n ASHG2025 poster<\/a> presentation “Guilt by association – does SCAF8\u00a0<\/em>haploinsufficiency lead to a neurodevelopment disorder?”<\/p>\n ACMG2025 poster<\/a> presentation “Investigating the use of SpliceAI in Variant Reanalysis of a Cohort of Fetuses with Congenital Brain Abnormalities”<\/p>\n Sneddon TP, Gilmore KL, Xiong M, Weck K, Powell BC, Vora NL. WDR44<\/em> Loss-of-Function Promoter Deletion in a Male Newborn with a Ciliopathy Phenotype. Am J Med Genet A. 2024 Sept 5:e63861. PMID: 39235309<\/a>.<\/span><\/p>\n ACMG2024 poster<\/a> presentation “GENYSIS: a novel core facility for clinical evaluation of research genomic sequence”.<\/p>\n CNS2023 poster<\/a> presentation “Inclusion of Medically Underserved Populations in a Cohort with Developmental and Epileptic Encephalopathies”.<\/p>\n ASHG2023 poster<\/a> presentation \u201cZellweger spectrum disorder: The case of a missing PEX1<\/em> allele in a fetus with multiple congenital anomalies”.<\/p>\n Staley BS, Milko LV, Waltz M, Griesemer I, Mollison L, Grant TL, Farnan L, Roche M, Navas A, Lightfoot A, Foreman AKM, O’Daniel JM, O’Neill SC, Lin FC, Roman TS, Brandt A, Powell BC, Rini C, Berg JS, Bensen JT. Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial. Trials. 2021 Jun 14;22(1):395. PMID: 34127041<\/a>.<\/p>\n Roman TS, Crowley SB, Roche MI, Foreman AKM, O’Daniel JM, Seifert BA, Lee K, Brandt A, Gustafson C, DeCristo DM, Strande NT, Ramkissoon L, Milko LV, Owen P, Roy S, Xiong M, Paquin RS, Butterfield RM, Lewis MA, Souris KJ, Bailey DB Jr, Rini C, Booker JK, Powell BC, Weck KE, Powell CM, Berg JS. Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project. Am J Hum Genet. 2020 Oct 1;107(4):596-611. PMID: 32853555<\/a>.<\/p>\n Vora NL, Gilmore K, Brandt A, Gustafson C, Strande N, Ramkissoon L, Hardisty E, Foreman AKM, Wilhelmsen K, Owen P, Weck KE, Berg JS, Powell CM, Powell BC. An approach to integrating exome sequencing for fetal structural anomalies into clinical practice. Genet Med. 2020 May;22(5):954-961. PMID: 31974414<\/a>.<\/p>\n Marchuk DS, Crooks K, Strande N, Kaiser-Rogers K, Milko LV, Brandt A, Arreola A, Tilley CR, Bizon C, Vora NL, Wilhelmsen KC, Evans JP, Berg JS. Increasing the diagnostic yield of exome sequencing by copy number variant analysis. PLoS One. 2018 Dec 17;13(12):e0209185. PMID: 30557390<\/a>.<\/p>\n Lee K, Berg JS, Milko L, Crooks K, Lu M, Bizon C, Owen P, Wilhelmsen KC, Weck KE, Evans JP, Garg S. High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. Am J Ophthalmol. 2015 Aug;160(2):354-363.e9. PMID: 25910913<\/a>.<\/p>\n Haskell GT, Jensen BC, Samsa LA, Marchuk D, Huang W, Skrzynia C, Tilley C, Seifert BA, Rivera-Mu\u00f1oz EA, Koller B, Wilhelmsen KC, Liu J, Alhosaini H, Weck KE, Evans JP, Berg JS. Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. Circ Cardiovasc Genet. 2017 Jun;10(3):e001443. PMID: 28611029<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"Projects that informed the development of GENYSIS:<\/h3>\n