GENYSIS Publications - GENYSIS - Clinical Genomic Analysis Core

Approved UNC GENYSIS Core presentations and publications:

ACMG2024 poster presentation “GENYSIS: a novel core facility for clinical evaluation of research genomic sequence”.

Projects that informed the development of GENYSIS:

ACMG2024 poster presentation “Structural Variant Analysis Unveils Loss-of-Function Promoter Deletion in Candidate Gene WDR44“

ASHG2023 poster presentation “Zellweger spectrum disorder: The case of a missing PEX1 allele in a fetus with multiple congenital anomalies”.

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.

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.

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.

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.

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.

Haskell GT, Jensen BC, Samsa LA, Marchuk D, Huang W, Skrzynia C, Tilley C, Seifert BA, Rivera-Muñoz 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.