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Page 1
Paediatric genomic testing: Navigating medicare rebatable genomic testing.
Sachdev R, Field M, Baynam GS, Beilby J, Berarducci M, Berman Y, Boughtwood T, Cusack MB, Fitzgerald V, Fletcher J, Freckmann ML, Grainger N, Kirk E, Lundie B, Lunke S, McGregor L, Mowat D, Parasivam G, Tyrell V, Wallis M, White SM, S L Ma A. Sachdev R, et al. J Paediatr Child Health. 2021 Apr;57(4):477-483. doi: 10.1111/jpc.15382. Epub 2021 Feb 10. J Paediatr Child Health. 2021. PMID: 33566436 Free PMC article.
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.
Palmer EE, Hayner J, Sachdev R, Cardamone M, Kandula T, Morris P, Dias KR, Tao J, Miller D, Zhu Y, Macintosh R, Dinger ME, Cowley MJ, Buckley MF, Roscioli T, Bye A, Kilberg MS, Kirk EP. Palmer EE, et al. Among authors: sachdev r. Mol Genet Metab. 2015 Nov;116(3):178-86. doi: 10.1016/j.ymgme.2015.08.007. Epub 2015 Aug 14. Mol Genet Metab. 2015. PMID: 26318253 Free PMC article.
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: sachdev r. 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.
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Palmer EE, Schofield D, Shrestha R, Kandula T, Macintosh R, Lawson JA, Andrews I, Sampaio H, Johnson AM, Farrar MA, Cardamone M, Mowat D, Elakis G, Lo W, Zhu Y, Ying K, Morris P, Tao J, Dias KR, Buckley M, Dinger ME, Cowley MJ, Roscioli T, Kirk EP, Bye A, Sachdev RK. Palmer EE, et al. Among authors: sachdev rk. Mol Genet Genomic Med. 2018 Mar;6(2):186-199. doi: 10.1002/mgg3.355. Epub 2018 Jan 4. Mol Genet Genomic Med. 2018. PMID: 29314763 Free PMC article.
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Ewans LJ, Schofield D, Shrestha R, Zhu Y, Gayevskiy V, Ying K, Walsh C, Lee E, Kirk EP, Colley A, Ellaway C, Turner A, Mowat D, Worgan L, Freckmann ML, Lipke M, Sachdev R, Miller D, Field M, Dinger ME, Buckley MF, Cowley MJ, Roscioli T. Ewans LJ, et al. Among authors: sachdev r. Genet Med. 2018 Dec;20(12):1564-1574. doi: 10.1038/gim.2018.39. Epub 2018 Mar 29. Genet Med. 2018. PMID: 29595814 Free article.
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: sachdev r. Clin Epigenetics. 2018 Aug 30;10(1):114. doi: 10.1186/s13148-018-0546-4. Clin Epigenetics. 2018. PMID: 30165906 Free PMC article.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Sekiguchi F, et al. Among authors: sachdev r. J Hum Genet. 2019 Dec;64(12):1173-1186. doi: 10.1038/s10038-019-0667-4. Epub 2019 Sep 17. J Hum Genet. 2019. PMID: 31530938
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
Australian Genomics Health Alliance Acute Care Flagship; Lunke S, Eggers S, Wilson M, Patel C, Barnett CP, Pinner J, Sandaradura SA, Buckley MF, Krzesinski EI, de Silva MG, Brett GR, Boggs K, Mowat D, Kirk EP, Adès LC, Akesson LS, Amor DJ, Ayres S, Baxendale A, Borrie S, Bray A, Brown NJ, Chan CY, Chong B, Cliffe C, Delatycki MB, Edwards M, Elakis G, Fahey MC, Fennell A, Fowles L, Gallacher L, Higgins M, Howell KB, Hunt L, Hunter MF, Jones KJ, King S, Kumble S, Lang S, Le Moing M, Ma A, Phelan D, Quinn MCJ, Richards A, Richmond CM, Riseley J, Rodgers J, Sachdev R, Sadedin S, Schlapbach LJ, Smith J, Springer A, Tan NB, Tan TY, Temple SL, Theda C, Vasudevan A, White SM, Yeung A, Zhu Y, Martyn M, Best S, Roscioli T, Christodoulou J, Stark Z. Australian Genomics Health Alliance Acute Care Flagship, et al. Among authors: sachdev r. JAMA. 2020 Jun 23;323(24):2503-2511. doi: 10.1001/jama.2020.7671. JAMA. 2020. PMID: 32573669 Free PMC article.
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Palmer EE, Carroll R, Shaw M, Kumar R, Minoche AE, Leffler M, Murray L, Macintosh R, Wright D, Troedson C, McKenzie F, Townshend S, Ward M, Nawaz U, Ravine A, Runke CK, Thorland EC, Hummel M, Foulds N, Pichon O, Isidor B, Le Caignec C, Demeer B, Andrieux J, Albarazi SH, Bye A, Sachdev R, Kirk EP, Cowley MJ, Field M, Gecz J. Palmer EE, et al. Among authors: sachdev r. Am J Hum Genet. 2020 Dec 3;107(6):1157-1169. doi: 10.1016/j.ajhg.2020.10.005. Epub 2020 Nov 6. Am J Hum Genet. 2020. PMID: 33159883 Free PMC article.
312 results