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Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.
Miller DE, Lee L, Galey M, Kandhaya-Pillai R, Tischkowitz M, Amalnath D, Vithlani A, Yokote K, Kato H, Maezawa Y, Takada-Watanabe A, Takemoto M, Martin GM, Eichler EE, Hisama FM, Oshima J. Miller DE, et al. Among authors: galey m. J Med Genet. 2022 May 9;59(11):1087-94. doi: 10.1136/jmedgenet-2022-108485. Online ahead of print. J Med Genet. 2022. PMID: 35534204 Free PMC article.
GENOME REPORT: Chromosome-scale genome assembly of the African spiny mouse ( Acomys cahirinus ).
Nguyen ED, Fard VN, Kim BY, Collins S, Galey M, Nelson BR, Wakenight P, Gable SM, McKenna A, Bammler TK, MacDonald J, Okamura DM, Shendure J, Beier DR, Ramirez JM, Majesky MW, Millen KJ, Tollis M, Miller DE. Nguyen ED, et al. Among authors: galey m. bioRxiv [Preprint]. 2023 Apr 5:2023.04.03.535372. doi: 10.1101/2023.04.03.535372. bioRxiv. 2023. PMID: 37066261 Free PMC article. Updated. Preprint.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Genome Report: chromosome-scale genome assembly of the African spiny mouse (Acomys cahirinus).
Nguyen ED, Fard VN, Kim BY, Collins S, Galey M, Nelson BR, Wakenight P, Gable SM, McKenna A, Bammler TK, MacDonald J, Okamura DM, Shendure J, Beier DR, Ramirez JM, Majesky MW, Millen KJ, Tollis M, Miller DE. Nguyen ED, et al. Among authors: galey m. G3 (Bethesda). 2023 Sep 30;13(10):jkad177. doi: 10.1093/g3journal/jkad177. G3 (Bethesda). 2023. PMID: 37552705 Free PMC article.
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development.
Wilderman A, D'haene E, Baetens M, Yankee TN, Winchester EW, Glidden N, Roets E, Van Dorpe J, Janssens S, Miller DE, Galey M, Brown KM, Stottmann RW, Vergult S, Weaver KN, Brugmann SA, Cox TC, Cotney J. Wilderman A, et al. Among authors: galey m. Nat Commun. 2024 Jan 2;15(1):136. doi: 10.1038/s41467-023-44506-2. Nat Commun. 2024. PMID: 38167838 Free PMC article.
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.
Fleming A, Galey M, Briggs L, Edwards M, Hogg C, John S, Wilkinson S, Quinn E, Rai R, Burgoyne T, Rogers A, Patel MP, Griffin P, Muller S, Carr SB, Loebinger MR, Lucas JS, Shah A, Jose R, Mitchison HM, Shoemark A, Miller DE, Morris-Rosendahl DJ. Fleming A, et al. Among authors: galey m. Eur J Hum Genet. 2024 Apr 11. doi: 10.1038/s41431-024-01599-7. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38605126
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Galey M, Goffena J, Gibson SB, Allan TJ, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel N, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Hubshman MW, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. LaFlamme CW, et al. Among authors: galey m. medRxiv [Preprint]. 2023 Oct 12:2023.10.11.23296741. doi: 10.1101/2023.10.11.23296741. medRxiv. 2023. PMID: 37873138 Free PMC article. Preprint.
25 results