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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.
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
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.
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.
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.
Bastard P, Hsiao KC, Zhang Q, Choin J, Best E, Chen J, Gervais A, Bizien L, Materna M, Harmant C, Roux M, Hawley NL, Weeks DE, McGarvey ST, Sandoval K, Barberena-Jonas C, Quinto-Cortés CD, Hagelberg E, Mentzer AJ, Robson K, Coulibaly B, Seeleuthner Y, Bigio B, Li Z, Uzé G, Pellegrini S, Lorenzo L, Sbihi Z, Latour S, Besnard M, Adam de Beaumais T, Jacqz Aigrain E, Béziat V, Deka R, Esera Tulifau L, Viali S, Reupena MS, Naseri T, McNaughton P, Sarkozy V, Peake J, Blincoe A, Primhak S, Stables S, Gibson K, Woon ST, Drake KM, Hill AVS, Chan CY, King R, Ameratunga R, Teiti I, Aubry M, Cao-Lormeau VM, Tangye SG, Zhang SY, Jouanguy E, Gray P, Abel L, Moreno-Estrada A, Minster RL, Quintana-Murci L, Wood AC, Casanova JL. Bastard P, et al. Among authors: chan cy. J Exp Med. 2022 Jun 6;219(6):e20220028. doi: 10.1084/jem.20220028. Epub 2022 Apr 20. J Exp Med. 2022. PMID: 35442418 Free PMC article.
An international, multi-center study evaluated rituximab therapy in childhood steroid-resistant nephrotic syndrome.
Chan EY, Sinha A, Yu ELM, Akhtar N, Angeletti A, Bagga A, Banerjee S, Boyer O, Chan CY, Francis A, Ghiggeri GM, Hamada R, Hari P, Hooman N, Hopf LS, I MI, Ijaz I, Ivanov DD, Kalra S, Kang HG, Lucchetti L, Lugani F, Ma AL, Morello W, Camargo Muñiz MD, Pradhan SK, Prikhodina L, Raafat RH, Sinha R, Teo S, Tomari K, Vivarelli M, Webb H, Yap HK, Yap DY, Tullus K. Chan EY, et al. Among authors: chan cy. Kidney Int. 2024 Dec;106(6):1146-1157. doi: 10.1016/j.kint.2024.09.011. Epub 2024 Oct 10. Kidney Int. 2024. PMID: 39395629 Free article.
1,027 results