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139 results

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Page 1
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Lee E, Le T, Zhu Y, Elakis G, Turner A, Lo W, Venselaar H, Verrenkamp CA, Snow N, Mowat D, Kirk EP, Sachdev R, Smith J, Brown NJ, Wallis M, Barnett C, McKenzie F, Freckmann ML, Collins F, Chopra M, Gregersen N, Hayes I, Rajagopalan S, Tan TY, Stark Z, Savarirayan R, Yeung A, Adès L, Gattas M, Gibson K, Gabbett M, Amor DJ, Lattanzi W, Boyd S, Haan E, Gianoutsos M, Cox TC, Buckley MF, Roscioli T. Lee E, et al. Among authors: hayes i. Genet Med. 2018 Sep;20(9):1061-1068. doi: 10.1038/gim.2017.214. Epub 2017 Dec 7. Genet Med. 2018. PMID: 29215649 Free article.
Medial temporal lobe dysgenesis in hypochondroplasia.
Kannu P, Hayes IM, Mandelstam S, Donnan L, Savarirayan R. Kannu P, et al. Am J Med Genet A. 2005 Nov 1;138(4):389-91. doi: 10.1002/ajmg.a.30974. Am J Med Genet A. 2005. PMID: 16222682
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA. Hoischen A, et al. Nat Genet. 2010 Jun;42(6):483-5. doi: 10.1038/ng.581. Epub 2010 May 2. Nat Genet. 2010. PMID: 20436468
Detection of sudden death syndromes in New Zealand.
Earle N, Crawford J, Gibson K, Love D, Hayes I, Neas K, Stiles M, Graham M, Donoghue T, Aitken A, Skinner J. Earle N, et al. Among authors: hayes i. N Z Med J. 2016 Nov 18;129(1445):67-74. N Z Med J. 2016. PMID: 27857240
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
Dagar V, Hutchison W, Muscat A, Krishnan A, Hoke D, Buckle A, Siswara P, Amor DJ, Mann J, Pinner J, Colley A, Wilson M, Sachdev R, McGillivray G, Edwards M, Kirk E, Collins F, Jones K, Taylor J, Hayes I, Thompson E, Barnett C, Haan E, Freckmann ML, Turner A, White S, Kamien B, Ma A, Mackenzie F, Baynam G, Kiraly-Borri C, Field M, Dudding-Byth T, Algar EM. Dagar V, et al. Among authors: hayes i. Clin Epigenetics. 2018 Aug 30;10(1):114. doi: 10.1186/s13148-018-0546-4. Clin Epigenetics. 2018. PMID: 30165906 Free PMC article.
Expansion of phenotype of DDX3X syndrome: six new cases.
Beal B, Hayes I, McGaughran J, Amor DJ, Miteff C, Jackson V, van Reyk O, Subramanian G, Hildebrand MS, Morgan AT, Goel H. Beal B, et al. Among authors: hayes i. Clin Dysmorphol. 2019 Oct;28(4):169-174. doi: 10.1097/MCD.0000000000000289. Clin Dysmorphol. 2019. PMID: 31274575
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, Bennetts… See abstract for full author list ➔ Bournazos AM, et al. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Clinical and genetic aspects of KBG syndrome.
Low K, Ashraf T, Canham N, Clayton-Smith J, Deshpande C, Donaldson A, Fisher R, Flinter F, Foulds N, Fryer A, Gibson K, Hayes I, Hills A, Holder S, Irving M, Joss S, Kivuva E, Lachlan K, Magee A, McConnell V, McEntagart M, Metcalfe K, Montgomery T, Newbury-Ecob R, Stewart F, Turnpenny P, Vogt J, Fitzpatrick D, Williams M; DDD Study; Smithson S. Low K, et al. Among authors: hayes i. Am J Med Genet A. 2016 Nov;170(11):2835-2846. doi: 10.1002/ajmg.a.37842. Epub 2016 Sep 26. Am J Med Genet A. 2016. PMID: 27667800 Free PMC article.
139 results