Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 2019
  2. ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy

    Handley, M. , Reddy, K. , Wills, J. , Rosser, E. , Kamath, A. , Halachev, M. , Falkous, G. , Williams, D. , Cox, P. , Meynert, A. , Raymond, E. , Morrison, H. , Brown, S. , Allan, E. , Aligianis, I. , Jackson, A. , Ramsahoye, B. , Von Kriegsheim, A. , Taylor, R. W. , Finch, A. & 1 others FitzPatrick, D. 11 Mar 2019 In : PLoS Genetics.

    Research output: Contribution to journalArticle

  3. 2018
  4. Pathogenicity and selective constraint on variation near splice sites

    Deciphering Developmental Disorders Study 26 Dec 2018 In : Genome Research.

    Research output: Contribution to journalArticle

  5. Quantifying the contribution of recessive coding variation to developmental disorders

    Deciphering Developmental Disorders Study 8 Nov 2018 In : Science.

    Research output: Contribution to journalArticle

  6. 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

  7. 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 journalLetter

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

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