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Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death.
Armes JE, Williams M, Price G, Wallis T, Gallagher R, Matsika A, Joy C, Galea M, Gardener G, Leach R, Swagemakers SM, Tearle R, Stubbs A, Harraway J, van der Spek PJ, Venter DJ. Armes JE, et al. Among authors: leach r. Pediatr Dev Pathol. 2018 Jan-Feb;21(1):54-67. doi: 10.1177/1093526617715528. Epub 2017 Jun 22. Pediatr Dev Pathol. 2018. PMID: 28641477
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ellingford JM, Barton S, Bhaskar S, Williams SG, Sergouniotis PI, O'Sullivan J, Lamb JA, Perveen R, Hall G, Newman WG, Bishop PN, Roberts SA, Leach R, Tearle R, Bayliss S, Ramsden SC, Nemeth AH, Black GC. Ellingford JM, et al. Among authors: leach r. Ophthalmology. 2016 May;123(5):1143-50. doi: 10.1016/j.ophtha.2016.01.009. Epub 2016 Feb 9. Ophthalmology. 2016. PMID: 26872967 Free PMC article.
Genome sequencing identifies major causes of severe intellectual disability.
Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA. Gilissen C, et al. Among authors: leach r. Nature. 2014 Jul 17;511(7509):344-7. doi: 10.1038/nature13394. Epub 2014 Jun 4. Nature. 2014. PMID: 24896178 Free article.
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR. Stavropoulos DJ, et al. Among authors: leach ra. NPJ Genom Med. 2016 Jan 13;1:15012-. doi: 10.1038/npjgenmed.2015.12. NPJ Genom Med. 2016. PMID: 28567303 Free PMC article.
High-dose interleukin2 - a 10-year single-site experience in the treatment of metastatic renal cell carcinoma: careful selection of patients gives an excellent outcome.
Chow S, Galvis V, Pillai M, Leach R, Keene E, Spencer-Shaw A, Shablak A, Shanks J, Liptrot T, Thistlethwaite F, Hawkins RE. Chow S, et al. Among authors: leach r. J Immunother Cancer. 2016 Oct 18;4:67. doi: 10.1186/s40425-016-0174-5. eCollection 2016. J Immunother Cancer. 2016. PMID: 27777776 Free PMC article.
Characterization of Y chromosome diversity in newfoundland and labrador: evidence for a structured founding population.
Zurel H, Bhérer C, Batten R, MacMillan ME, Demiriz S, Mirhendi S, Gilbert E, Cavalleri GL, Leach RA, Scott REM, Mugford G, Randhawa R, Symington AL, Stephens JC, Phillips MS. Zurel H, et al. Among authors: leach ra. Eur J Hum Genet. 2025 Jan;33(1):98-107. doi: 10.1038/s41431-024-01719-3. Epub 2024 Oct 29. Eur J Hum Genet. 2025. PMID: 39472688 Free PMC article.
N-Linked Fucosylated Glycans Are Biomarkers for Prostate Cancer with a Neuroendocrine and Metastatic Phenotype.
Ippolito JE, Hartig JP, Bejar K, Nakhoul H, Sehn JK, Weimholt C, Grimsley G, Nunez E, Trikalinos NA, Chatterjee D, Kim EH, Mehta AS, Angel PM, Troyer DA, Leach RJ, Corey E, Wu JD, Drake RR. Ippolito JE, et al. Among authors: leach rj. Mol Cancer Res. 2025 Jan 2;23(1):59-70. doi: 10.1158/1541-7786.MCR-24-0660. Mol Cancer Res. 2025. PMID: 39417716 Free PMC article.
935 results