Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 2018
  2. Quantifying the contribution of recessive coding variation to developmental disorders

    Deciphering Developmental Disorders Study 8 Nov 2018 In : Science.

    Research output: Contribution to journalArticle

  3. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

    Kline, A. D. , Moss, J. F. , Selicorni, A. , Bisgaard, A-M. , Deardorff, M. A. , Gillett, P. M. , Ishman, S. L. , Kerr, L. M. , Levin, A. V. , Mulder, P. A. , Ramos, F. J. , Wierzba, J. , Ajmone, P. F. , Axtell, D. , Blagowidow, N. , Cereda, A. , Costantino, A. , Cormier-Daire, V. , FitzPatrick, D. , Grados, M. & 23 others Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O'Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tumer, Z., Van Balkom, I. D. C. & Hennekam, R. C. Oct 2018 In : Nature Reviews Genetics. 19, 10, p. 649-666 18 p.

    Research output: Contribution to journalReview article

  4. Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

    Niemi, M. E. K., Martin, H. C., Rice, D. L., Gallon, G., Gordon, S., Kelemen, M., McAloney, K., McRae, J., Radford, E. J., Yu, S., Gecz, J., Martin, N. G., Wright, C. F., Fitzpatrick, D. R., Firth, H., Hurles, M. E. & Barrett, J. C. 26 Sep 2018 In : Nature. 562, 7726, p. 268-+ 15 p.

    Research output: Contribution to journalArticle

  5. The genetic architecture of aniridia and Gillespie syndrome

    Hall, H. N., Williamson, K. A. & Fitzpatrick, D. R. 22 Sep 2018 In : Human Genetics.

    Research output: Contribution to journalReview article

  6. Paediatric genomics: diagnosing rare disease in children

    Wright, C. F., FitzPatrick, D. R. & Firth, H. V. May 2018 In : Nature Reviews Genetics. 19, 5, p. 253-268 16 p.

    Research output: Contribution to journalReview article

  7. Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study

    Mannikko, R. , Wong, L. , Tester, D. J. , Thor, M. G. , Sud, R. , Kullmann, D. M. , Sweeney, M. G. , Leu, C. , Sisodiya, S. M. , FitzPatrick, D. R. , Evans, M. J. , Jeffrey, I. J. M. , Tfelt-Hansen, J. , Cohen, M. C. , Fleming, P. J. , Jaye, A. , Simpson, M. A. , Ackerman, M. J. , Hanna, M. G. , Behr, E. R. & 1 others Matthews, E. 14 Apr 2018 In : The Lancet. 391, 10129, p. 1483-1492 10 p.

    Research output: Contribution to journalArticle

  8. NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea

    Campbell, J., FitzPatrick, D. R., Azam, T., Gibson, N. A., Somerville, L., Joss, S. K., Urquhart, D. S. & Deciphering Developmental Disorders Study 2 Apr 2018 In : Pediatrics. 141, Suppl 5, p. S485-S490

    Research output: Contribution to journalArticle

  9. De novo mutations in regulatory elements in neurodevelopmental disorders

    Short, P. J., McRae, J. F., Gallone, G., Sifrim, A., Won, H., Geschwind, D. H., Wright, C. F., Firth, H. V., FitzPatrick, D. R., Barrett, J. C. & Hurles, M. E. 29 Mar 2018 In : Nature. 555, 7698, p. 611-+ 19 p.

    Research output: Contribution to journalArticle

  10. Cardiac Genetic Predisposition in Sudden Infant Death Syndrome

    Tester, D. J., Wong, L. C. H., Chanana, P., Jaye, A., Evans, J. M., FitzPatrick, D. R., Evans, M. J., Fleming, P., Jeffrey, I., Cohen, M. C., Tfelt-Hansen, J., Simpson, M. A., Behr, E. R. & Ackerman, M. J. 20 Mar 2018 In : Journal of the American College of Cardiology. 71, 11, p. 1217-1227 11 p.

    Research output: Contribution to journalArticle

  11. BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

    Olley, G., Ansari, M., Bengani, H., Grimes, G. R., DDD study, Bickmore, W., Pradeepa, M. M. & FitzPatrick, D. Mar 2018 In : Nature Genetics.

    Research output: Contribution to journalArticle

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