Dr Felicity Collins

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

Telephone 02 9845 -3219(direct), 02 9845 3273(Dept)
Fax 98453204

Map

Selected publications

Download citations: PDF RTF Endnote

Journals

  • 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. [More Information]
  • Roscioli, T., Elakis, G., Cox, T., Moon, D., Venselaar, H., Turner, A., Le, T., Hackett, E., Haan, E., Colley, A., Collins, F., Wilson, M., et al (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), 259-270. [More Information]
  • Revencu, N., Boon, L., Mendola, A., Cordisco, M., Dubois, J., Clapuyt, P., Hammer, F., Amor, D., Irvine, A., Baselga, E., Collins, F., et al (2013). RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation. Human Mutation, 34(12), 1632-1641. [More Information]
  • 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. [More Information]
  • Daniel, P., Morgan, T., Alanay, Y., Bijlsma, E., Cho, T., Cole, T., Collins, F., David, A., Devriendt, K., Faivre, L., et al (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. [More Information]
  • Krone, N., Reisch, N., Idkowiak, J., Dhir, V., Ivison, H., Hughes, B., Rose, I., O'Neil, D., Vijzelaar, R., Smith, M., Collins, F., et al (2012). Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency. Journal of Clinical Endocrinology and Metabolism, 97(2), E257-E267. [More Information]
  • Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A., Collins, F., Salih, M., Gerber, S., Delphin, N., Bigot, K., et al (2012). Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations. American Journal of Human Genetics, 90(5), 864-870. [More Information]
  • Hokayem, J., Huber, C., Couve, A., Aziza, J., Baujat, G., Bouvier, R., Cavalcanti, D., Collins, F., Cordier, M., Delezoide, A., et al (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. [More Information]
  • Cavalcanti, D., Huber, C., Sang, K., Baujat, G., Collins, F., Delezoide, A., Dagoneau, N., Le Merrer, M., Martinovic, J., Mello, M., et al (2011). Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. Journal of Medical Genetics, 48(2), 88-92. [More Information]
  • Idkowiak, J., O'Riordan, S., Reisch, N., Malunowicz, E., Collins, F., Kerstens, M., Kohler, B., Graul-Neumann, L., Szarras-Czapnik, M., Dattani, M., et al (2011). Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency. Journal of Clinical Endocrinology and Metabolism, 96(3), E453-E462. [More Information]
  • Collins, F. (2009). Genetics terminology for respiratory physicians. Paediatric Respiratory Reviews, 10(3), 124-133. [More Information]
  • Kaplan, F., Xu, M., Glaser, D., Collins, F., Connor, M., Kitterman, J., Sillence, D., Zackai, E., Ravitsky, V., Zasloff, M., et al (2008). Early diagnosis of Fibrodysplasia Ossificans Progressiva. Pediatrics, 121(5), e1295-e1300. [More Information]
  • 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. [More Information]
  • Algar, E., St Heaps, L., Darmanian, A., Dagar, V., Prawitt, D., Peters, G., Collins, F. (2007). Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis. Cancer Research, 67(5), 2360-2365. [More Information]
  • Neas, K., Peters, G., Jackson, J., Tembe, M., Wu, Z., Brohede, J., Hannan, G., Collins, F. (2006). Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association. Clinical Dysmorphology, 15(1), 1-8. [More Information]
  • Fletcher, J., Hu, M., Berman, Y., Collins, F., Grigg, J., McIver, M., Juppner, H., Alexander, S. (2005). Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. Journal of the American Society of Nephrology, 16(9), 2754-2761. [More Information]

2013

  • 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. [More Information]
  • Roscioli, T., Elakis, G., Cox, T., Moon, D., Venselaar, H., Turner, A., Le, T., Hackett, E., Haan, E., Colley, A., Collins, F., Wilson, M., et al (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), 259-270. [More Information]
  • Revencu, N., Boon, L., Mendola, A., Cordisco, M., Dubois, J., Clapuyt, P., Hammer, F., Amor, D., Irvine, A., Baselga, E., Collins, F., et al (2013). RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation. Human Mutation, 34(12), 1632-1641. [More Information]
  • 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. [More Information]

2012

  • Daniel, P., Morgan, T., Alanay, Y., Bijlsma, E., Cho, T., Cole, T., Collins, F., David, A., Devriendt, K., Faivre, L., et al (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. [More Information]
  • Krone, N., Reisch, N., Idkowiak, J., Dhir, V., Ivison, H., Hughes, B., Rose, I., O'Neil, D., Vijzelaar, R., Smith, M., Collins, F., et al (2012). Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency. Journal of Clinical Endocrinology and Metabolism, 97(2), E257-E267. [More Information]
  • Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A., Collins, F., Salih, M., Gerber, S., Delphin, N., Bigot, K., et al (2012). Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations. American Journal of Human Genetics, 90(5), 864-870. [More Information]
  • Hokayem, J., Huber, C., Couve, A., Aziza, J., Baujat, G., Bouvier, R., Cavalcanti, D., Collins, F., Cordier, M., Delezoide, A., et al (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. [More Information]

2011

  • Cavalcanti, D., Huber, C., Sang, K., Baujat, G., Collins, F., Delezoide, A., Dagoneau, N., Le Merrer, M., Martinovic, J., Mello, M., et al (2011). Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. Journal of Medical Genetics, 48(2), 88-92. [More Information]
  • Idkowiak, J., O'Riordan, S., Reisch, N., Malunowicz, E., Collins, F., Kerstens, M., Kohler, B., Graul-Neumann, L., Szarras-Czapnik, M., Dattani, M., et al (2011). Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency. Journal of Clinical Endocrinology and Metabolism, 96(3), E453-E462. [More Information]

2009

  • Collins, F. (2009). Genetics terminology for respiratory physicians. Paediatric Respiratory Reviews, 10(3), 124-133. [More Information]

2008

  • Kaplan, F., Xu, M., Glaser, D., Collins, F., Connor, M., Kitterman, J., Sillence, D., Zackai, E., Ravitsky, V., Zasloff, M., et al (2008). Early diagnosis of Fibrodysplasia Ossificans Progressiva. Pediatrics, 121(5), e1295-e1300. [More Information]
  • 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. [More Information]

2007

  • Algar, E., St Heaps, L., Darmanian, A., Dagar, V., Prawitt, D., Peters, G., Collins, F. (2007). Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis. Cancer Research, 67(5), 2360-2365. [More Information]

2006

  • Neas, K., Peters, G., Jackson, J., Tembe, M., Wu, Z., Brohede, J., Hannan, G., Collins, F. (2006). Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association. Clinical Dysmorphology, 15(1), 1-8. [More Information]

2005

  • Fletcher, J., Hu, M., Berman, Y., Collins, F., Grigg, J., McIver, M., Juppner, H., Alexander, S. (2005). Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. Journal of the American Society of Nephrology, 16(9), 2754-2761. [More Information]

To update your profile click here. For support on your academic profile contact .