Dr Felicity Collins

Clinical Senior Lecturer
Paediatrics & Child Health, Children's Hospital, Westmead

C29 - Children's Hospital Westmead
The University of Sydney
NSW 2006 Australia

T: 02 9845 -3219(direct), 02 9845 3273(Dept)
F: 98453204
E:

Publications

2014 | 2013 | 2012 | 2011 | 2009 | 2008

2014

   
  • Utami, K., Hillmer, A., Aksoy, I., Chew, E., Teo, A., Zhang, Z., Lee, C., Chen, P., Seng, C., Ariyaratne, P., Rouam, S., Soo, L., Yousoof, S., Prokudin, I., Peters, G., Collins, F., Wilson, M., Kakakios, A., Haddad, G., Menuet, A., Perche, O., Tay, S., Sung, K., Ruan, X., Ruan, Y., Liu, E., Briault, S., Jamieson, R., Davila, S., Cacheux, V. (2014), Detection of chromosomal breakpoints in patients with developmental delay and speech disorders. PloS One. 9(3), e90852. [Abstract]

2013

   
  • Revencu, N., Boon, L., Mendola, A., Cordisco, M., Dubois, J., Clapuyt, P., Hammer, F., Amor, D., Irvine, A., Baselga, E., Dompmartin, A., Syed, S., Martin-Santiago, A., Ades, L., Collins, F., Smith, J., Sandaradura, S., Barrio, V., Burrows, P., Blei, F., Cozzolino, M., Brunetti-Pierri, N., Vicente, A., Abramowicz, M., Desir, J., Vilain, C., Chung, W., Wilson, A., Gardiner, C., Dwight, Y., Lord, D., Fishman, L., Cytrynbaum, C., Chamlin, S., Ghali, F., Gilaberte, Y., Joss, S., Boente, M., Leaute-Labreze, C., Delrue, M., Bayliss, S., Martorell, L., Gonzalez-Ensenat, M., Mazereeuw-Hautier, J., O'Donnell, B., Bessis, D., Pyeritz, R., Salhi, A., Tan, O., Wargon, O., Mulliken, J., Vikkula, M. (2013), RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Human Mutation. 34(12), 1632-1641. [Abstract]
  • Roscioli, T., Elakis, G., Cox, T., Moon, D., Venselaar, H., Turner, A., Le, T., Hackett, E., Haan, E., Colley, A., Mowat, D., Worgan, L., Kirk, E., Sachdev, R., Thompson, E., Gabbett, M., McGaughran, J., Gibson, K., Gattas, M., Freckmann, M., Dixon, J., Hoefsloot, L., Field, M., Hackett, A., Kamien, B., Edwards, M., Ades, L., Collins, F., Wilson, M., Savarirayan, R., Tan, T., Amor, D., McGillivray, G., White, S., Glass, I., David, D., Anderson, P., Gianoutsos, M., Buckley, M. (2013), Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 163(4), 259-570. [Abstract]
  • Ellaway, C., Ho, G., Bettella, E., Knapman, A., Collins, F., Hackett, A., McKenzie, F., Darmanian, A., Peters, G., Fagan, K., Christodoulou, J. (2013), 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. European Journal of Human Genetics. 21(5), 522-527. [Abstract]
  • Silove, N., Collins, F., Ellaway, C. (2013), Update on the investigation of children with delayed development. Journal of Paediatrics and Child Health. 49(7), 519-525. [Abstract]

2012

   
  • Krone, N., Reisch, N., Idkowiak, J., Dhir, V., Ivison, H., Hughes, B., Rose, I., O'Neil, D., Vijzelaar, R., Smith, M., Macdonald, F., Cole, T., Adolphs, N., Barton, J., Blair, E., Braddock, S., Collins, F., Cragun, D., Dattani, M., Day, R., Dougan, S., Feist, M., Gottschalk, M., Gregory, J., Haim, M., Harrison, R., Olney, A., Hauffa, B., Hindmarsh, P., Hopkin, R., Jira, P., Kempers, M., Kerstens, M., Khalifa, M., Köhler, B., Maiter, D., Nielsen, S., O'Riordan, S., Roth, C., Shane, K., Silink, M., Stikkelbroeck, N., Sweeney, E., Szarras-Czapnik, M., Waterson, J., Williamson, L., Hartmann, M., Taylor, N., Wudy, S., Malunowicz, E., Shackleton, C., Arlt, W. (2012), Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency. Journal of Clinical Endocrinology and Metabolism. 97(2), E257-E267. [Abstract]
  • Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A., Collins, F., Salih, M., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., Baudouin, V., Oud, M., Shannon, N., Le Merrer, M., Roche, O., Pietrement, C., Goumid, J., Baumann, C., Bole-Feysot, C., Nitschke, P., Zahrate, M., Beales, P., Arts, H., Munnich, A., Kaplan, J., Antignac, C., Cormier-Daire, V., Rozet, J. (2012), Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations. American Journal of Human Genetics. 90(5), 864-870. [Abstract]
  • El Hokayem, J., Huber, C., Couvé, A., Aziza, J., Baujat, G., Bouvier, R., Cavalcanti, D., Collins, F., Cordier, M., Delezoide, A., Gonzales, M., Johnson, D., Le Merrer, M., Levy-Mozziconacci, A., Loget, P., Martin-Coignard, D., Martinovic, J., Mortier, G., Perez, M., Roume, J., Scarano, G., Munnich, A., Cormier-Daire, V. (2012), NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. Journal of Medical Genetics. 49(4), 227-233. [Abstract]
  • Daniel, P., Morgan, T., Alanay, Y., Bijlsma, E., Cho, T., Cole, T., Collins, F., David, A., Devriendt, K., Faivre, L., Ikegawa, S., Jacquemont, S., Jesic, M., Krakow, D., Liebrecht, D., Maitz, S., Marlin, S., Morin, G., Nishikubo, T., Nishimura, G., Prescott, T., Scarano, G., Shafeghati, Y., Skovby, F., Tsutsumi, S., Whiteford, M., Zenker, M., Robertson, S. (2012), Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Human Mutation. 33(4), 665-673. [Abstract]

2011

   
  • Idkowiak, J., O'Riordan, S., Reisch, N., Malunowicz, E., Collins, F., Kerstens, M., Köhler, B., Graul-Neumann, L., Szarras-Czapnik, M., Dattani, M., Silink, M., Shackleton, C., Maiter, D., Krone, N., Arlt, W. (2011), Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency. The Journal of clinical endocrinology and metabolism. 96(3), E453-62. [Abstract]
  • Cavalcanti, D., Huber, C., Sang, K., Baujat, G., Collins, F., Delezoide, A., Dagoneau, N., Le Merrer, M., Martinovic, J., Mello, M., Vekemans, M., Munich, A., Cormier-Daire, V. (2011), Mutation in IFT80 gene in a foetus with a phenotype of Verma-Naumoff provides molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum. Journal of medical genetics. 48(2), 88-92. [Abstract]

2009

   
  • Collins, F. (2009), Genetics terminology for respiratory physicians. Paediatric respiratory reviews. 10(3), 124-133. [Abstract]

2008

   
  • Kaplan, F., Xu, M., Glaser, D., Collins, F., Connor, M., Kitterman, J., Sillence, D., Zackai, E., Ravitsky, V., Zasloff, M., Ganguly, A., Shore, E. (2008), Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics. 121(5), e1295-300. [Abstract]
  • Gabbett, M., Peters, G., Carmichael, J., Darmanian, A., Collins, F. (2008), Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region. Clinical genetics. 73(4), 353-359. [Abstract]