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121 results

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Page 1
Impact of integrated translational research on clinical exome sequencing.
Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Klee EW, et al. Among authors: schimmenti la. Genet Med. 2023 Feb;25(2):100359. doi: 10.1016/j.gim.2022.12.006. Genet Med. 2023. PMID: 36745126 Free article. No abstract available.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Ferrer A, Duffy P, Olson RJ, Meiners MA, Schultz-Rogers L, Macke EL, Safgren S, Morales-Rosado JA, Cousin MA, Oliver GR, Rider D, Williams M, Pichurin PN, Deyle DR, Morava E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Kaiwar C, Vitek CR, McAllister TM, Wick MJ, Schimmenti LA, Lazaridis KN, Vairo FPE, Klee EW. Ferrer A, et al. Among authors: schimmenti la. Hum Genet. 2024 May;143(5):649-666. doi: 10.1007/s00439-024-02664-3. Epub 2024 Mar 27. Hum Genet. 2024. PMID: 38538918
Alström syndrome caused by maternal uniparental disomy.
Lopour MQR, Schimmenti LA, Boczek NJ, Kearney HM, Drack AV, Brodsky MC. Lopour MQR, et al. Among authors: schimmenti la. Am J Ophthalmol Case Rep. 2022 Dec 31;29:101745. doi: 10.1016/j.ajoc.2022.101745. eCollection 2023 Mar. Am J Ophthalmol Case Rep. 2022. PMID: 36636630 Free PMC article.
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.
Farris J, Khanna C, Smadbeck JB, Johnson SH, Bothun E, Kaplan T, Hoffman F, Polonis K, Oliver G, Reis LM, Semina EV, Rust L, Hoppman NL, Vasmatzis G, Marcou CA, Schimmenti LA, Klee EW. Farris J, et al. Among authors: schimmenti la. Am J Med Genet A. 2024 May;194(5):e63542. doi: 10.1002/ajmg.a.63542. Epub 2024 Jan 17. Am J Med Genet A. 2024. PMID: 38234180
121 results