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]
• 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]
• 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]

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]

2007

• Murrell, D., Pasmooij, A., Pas, H., Marr, P., Klingberg, S., Pfendner, E., Uitto, J., Sadowski, S., Collins, F., Widmer, R., Jonkman, M. (2007), Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects. The Journal of Investigative Dermatology. , 1772-1775. [Abstract]
• 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. [Abstract]