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Year Number of Results
2005 1
2008 2
2009 7
2010 4
2011 3
2012 4
2013 4
2014 5
2015 8
2016 9
2017 11
2018 4
2019 8
2020 9
2021 16
2022 17
2023 14
2024 4

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101 results

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Page 1
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Among authors: hayeems rz. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Lionel AC, et al. Among authors: hayeems rz. Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771251 Free PMC article.
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. D'Gama AM, et al. Among authors: hayeems rz. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Lancet Neurol. 2023. PMID: 37596007 Free article.
Response to Rubanovich et al.
Hayeems RZ, Luca S, Ungar WJ, Bhatt A, Chad L, Pullenayegum E, Meyn MS. Hayeems RZ, et al. Genet Med. 2020 Mar;22(3):667-668. doi: 10.1038/s41436-019-0700-1. Epub 2019 Nov 19. Genet Med. 2020. PMID: 31740736 Free PMC article. No abstract available.
Translating Precision Health for Pediatrics: A Scoping Review.
Subasri M, Cressman C, Arje D, Schreyer L, Cooper E, Patel K, Ungar WJ, Barwick M, Denburg A, Hayeems RZ. Subasri M, et al. Among authors: hayeems rz. Children (Basel). 2023 May 17;10(5):897. doi: 10.3390/children10050897. Children (Basel). 2023. PMID: 37238445 Free PMC article. Review.
Trio RNA sequencing in a cohort of medically complex children.
Deshwar AR, Yuki KE, Hou H, Liang Y, Khan T, Celik A, Ramani A, Mendoza-Londono R, Marshall CR, Brudno M, Shlien A, Meyn MS, Hayeems RZ, McKinlay BJ, Klentrou P, Wilson MD, Kyriakopoulou L, Costain G, Dowling JJ. Deshwar AR, et al. Among authors: hayeems rz. Am J Hum Genet. 2023 May 4;110(5):895-900. doi: 10.1016/j.ajhg.2023.03.006. Epub 2023 Mar 28. Am J Hum Genet. 2023. PMID: 36990084 Free PMC article.
Clinical utility of genomic sequencing: a measurement toolkit.
Hayeems RZ, Dimmock D, Bick D, Belmont JW, Green RC, Lanpher B, Jobanputra V, Mendoza R, Kulkarni S, Grove ME, Taylor SL, Ashley E; Medical Genome Initiative. Hayeems RZ, et al. NPJ Genom Med. 2020 Dec 15;5(1):56. doi: 10.1038/s41525-020-00164-7. NPJ Genom Med. 2020. PMID: 33319814 Free PMC article. Review.
101 results