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Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.
Bouffler SE, Lee L, Lynch F, Martyn M, Lynch E, Macciocca I, Curnow L, McCorkell G, Lunke S, Chong B, Marum JE, Delatycki M, Downie L, Goranitis I, Vears DF, Best S, Clausen M, Bombard Y, Stark Z, Gaff CL. Bouffler SE, et al. Among authors: lynch e, lynch f. BMJ Open. 2023 Jun 2;13(6):e072999. doi: 10.1136/bmjopen-2023-072999. BMJ Open. 2023. PMID: 37270192 Free PMC article.
Genetic Counseling in the Era of Genomics: What's all the Fuss about?
Brett GR, Wilkins EJ, Creed ET, West K, Jarmolowicz A, Valente GM, Prawer Y, Lynch E, Macciocca I. Brett GR, et al. Among authors: lynch e. J Genet Couns. 2018 Sep;27(5):1010-1021. doi: 10.1007/s10897-018-0216-x. Epub 2018 Jan 24. J Genet Couns. 2018. PMID: 29368275
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.
Martyn M, Kanga-Parabia A, Lynch E, James PA, Macciocca I, Trainer AH, Halliday J, Keogh L, Wale J, Winship I, Bogwitz M, Valente G, Walsh M, Downie L, Amor D, Wallis M, Cunningham F, Burgess M, Brown NJ, Jarmolowicz A, Lunke S, Goranitis I; Melbourne Genomics Health Alliance; Gaff CL. Martyn M, et al. Among authors: lynch e. J Genet Couns. 2019 Apr;28(2):388-397. doi: 10.1002/jgc4.1102. Epub 2019 Feb 18. J Genet Couns. 2019. PMID: 30776170
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.
Downie L, Halliday J, Burt R, Lunke S, Lynch E, Martyn M, Poulakis Z, Gaff C, Sung V, Wake M, Hunter MF, Saunders K, Rose E, Lewis S, Jarmolowicz A, Phelan D, Rehm HL; Melbourne Genomics Health Alliance; Amor DJ. Downie L, et al. Among authors: lynch e. Eur J Hum Genet. 2020 May;28(5):587-596. doi: 10.1038/s41431-019-0553-8. Epub 2019 Dec 12. Eur J Hum Genet. 2020. PMID: 31827275 Free PMC article.
Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.
Ramchand J, Wallis M, Macciocca I, Lynch E, Farouque O, Martyn M, Phelan D, Chong B, Lockwood S, Weintraub R, Thompson T, Trainer A, Zentner D, Vohra J, Chetrit M, Hare DL, James P. Ramchand J, et al. Among authors: lynch e. J Am Heart Assoc. 2020 Jan 21;9(2):e013346. doi: 10.1161/JAHA.119.013346. Epub 2020 Jan 14. J Am Heart Assoc. 2020. PMID: 31931689 Free PMC article.
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Blombery P, Fox L, Ryland GL, Thompson ER, Lickiss J, McBean M, Yerneni S, Trainer A, Hughes D, Greenway A, Mechinaud F, Wood EM, Lieschke GJ, Szer J, Barbaro P, Roy J, Wight J, Lynch E, Martyn M, Gaff C, Ritchie D. Blombery P, et al. Among authors: lynch e. Haematologica. 2021 Jan 1;106(1):64-73. doi: 10.3324/haematol.2019.237693. Haematologica. 2021. PMID: 32054657 Free PMC article.
807 results