Pediatric - Genetics Division

Research output

Research output per year 1970 1986 1989 2007 2009 2013 2014 2015 2018 2019 2021 2022 2023

• 117 Article
• 5 Chapter
• 4 Comment/debate
• 4 Review article
• 3 More
  • 3 Letter

Research output per year

Research output per year

Search results

• 2021

  A dyadic approach to the delineation of diagnostic entities in clinical genomics

  Biesecker, L. G., Adam, M. P., Alkuraya, F. S., Amemiya, A. R., Bamshad, M. J., Beck, A. E., Bennett, J. T., Bird, L. M., Carey, J. C., Chung, B., Clark, R. D., Cox, T. C., Curry, C., Dinulos, M. B. P., Dobyns, W. B., Giampietro, P. F., Girisha, K. M., Glass, I. A., Graham, J. M., Gripp, K. W., & 27 othersHaldeman-Englert, C. R., Hall, B. D., Innes, A. M., Kalish, J. M., Keppler-Noreuil, K. M., Kosaki, K., Kozel, B. A., Mirzaa, G. M., Mulvihill, J. J., Nowaczyk, M. J. M., Pagon, R. A., Retterer, K., Rope, A. F., Sanchez-Lara, P. A., Seaver, L. H., Shieh, J. T., Slavotinek, A. M., Sobering, A. K., Stevens, C. A., Stevenson, D. A., Tan, T. Y., Tan, W. H., Tsai, A. C., Weaver, D. D., Williams, M. S., Zackai, E. & Zarate, Y. A., Jan 7 2021, In: American Journal of Human Genetics. 108, 1, p. 8-15 8 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access
• 2020

  Optimizing Genetic Diagnosis of Neurodevelopmental Disorders in the Clinical Setting

  Michelson, D. J. & Clark, R. D., Sep 2020, In: Clinics in Laboratory Medicine. 40, 3, p. 231-256 26 p.

  Research output: Contribution to journal › Review article › peer-review
• 2009

  FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing

  Clark, R. D., Graham, J. M., Friez, M. J., Hoo, J. J., Jones, K. L., McKeown, C., Moeschler, J. B., Raymond, F. L., Rogers, R. C., Schwartz, C. E., Battaglia, A., Lyons, M. J. & Stevenson, R. E., Nov 2009, In: Genetics in Medicine. 11, 11, p. 769-775 7 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access
• 2005

  MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: Report of ten cases and review of the literature

  Garavelli, L., Leask, K., Zanacca, C., Pedori, S., Albertini, G., Della Giustina, E., Croci, G. F., Magnani, C., Banchini, G., Clayton-Smith, J., Bocian, M., Firth, H., Gold, J. A. & Hurst, J., 2005, In: Genetic Counseling. 16, 2, p. 117-128 12 p.

  Research output: Contribution to journal › Review article › peer-review