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Page 1
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR. Ansari M, et al. Among authors: chan cy. J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14. J Med Genet. 2014. PMID: 25125236 Free PMC article.
Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.
Evans CA, Pinner J, Chan CY, Bowyer L, Mowat D, Buckley MF, Roscioli T. Evans CA, et al. Among authors: chan cy. Am J Med Genet A. 2019 Oct;179(10):2152-2157. doi: 10.1002/ajmg.a.61295. Epub 2019 Jul 19. Am J Med Genet A. 2019. PMID: 31321886
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: chan cy. JAMA. 2020 Jun 23;323(24):2503-2511. doi: 10.1001/jama.2020.7671. JAMA. 2020. PMID: 32573669 Free PMC article.
Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome.
Biggin A, Enriquez A, Wong M, Bennetts B, Lau C, Chan CY, Pinner J, Adelstein S, Adès LC. Biggin A, et al. Among authors: chan cy. J Clin Immunol. 2018 Apr;38(3):234-236. doi: 10.1007/s10875-018-0484-0. Epub 2018 Mar 9. J Clin Immunol. 2018. PMID: 29524015 No abstract available.
Vaccine-induced T cell responses control Orthoflavivirus challenge infection without neutralizing antibodies in humans.
Kalimuddin S, Tham CYL, Chan YFZ, Hang SK, Kunasegaran K, Chia A, Chan CYY, Ng DHL, Sim JXY, Tan HC, Syenina A, Ngoh AQ, Hamis NZ, Chew V, Leong YS, Yee JX, Low JG, Chan KR, Ong EZ, Bertoletti A, Ooi EE. Kalimuddin S, et al. Among authors: chan cyy. Nat Microbiol. 2025 Jan 10. doi: 10.1038/s41564-024-01903-7. Online ahead of print. Nat Microbiol. 2025. PMID: 39794472
Enhancing Recovery in Severe Adolescent Idiopathic Scoliosis (AIS) Patients With Cobb Angle ≥90 Degrees Undergoing Single-staged Posterior Spinal Fusion (PSF): Evaluating the Feasibility of Rapid Recovery Protocol (RRP).
Chandirasegaran S, Chan CYW, Chiu CK, Mohamad SM, Hasan MS, Kwan MK. Chandirasegaran S, et al. Among authors: chan cyw. Clin Spine Surg. 2025 Jan 3. doi: 10.1097/BSD.0000000000001755. Online ahead of print. Clin Spine Surg. 2025. PMID: 39749929
A mathematical model for estimating the intraoperative lowest instrumented vertebra (LIV) tilt angle using preoperative supine left side-bending (LSB) radiographs in adolescent idiopathic scoliosis (AIS) patients with lenke type 1 and 2 non-AR curves.
Kwan MK, Lee SY, Fam SK, Tan YWE, Ngan CH, Chandirasegaran S, Chiu CK, Chan CYW. Kwan MK, et al. Among authors: chan cyw. Eur Spine J. 2024 Dec 30. doi: 10.1007/s00586-024-08602-1. Online ahead of print. Eur Spine J. 2024. PMID: 39738872
1,036 results