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

• 2019

  Correction: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome (Genome Medicine (2019) 11 (12) DOI: 10.1186/s13073-019-0623-0)

  Vetrini, F., McKee, S., Rosenfeld, J. A., Suri, M., Lewis, A. M., Nugent, K. M., Roeder, E., Littlejohn, R. O., Holder, S., Zhu, W., Alaimo, J. T., Graham, B., Harris, J. M., Gibson, J. B., Pastore, M., McBride, K. L., Komara, M., Al-Gazali, L., Al Shamsi, A., Fanning, E. A., & 37 othersWierenga, K. J., Scott, D. A., Ben-Neriah, Z., Meiner, V., Cassuto, H., Elpeleg, O., Lloyd Holder, J., Burrage, L. C., Seaver, L. H., Van Maldergem, L., Mahida, S., Soul, J. S., Marlatt, M., Matyakhina, L., Vogt, J., Gold, J. A., Park, S. M., Varghese, V., Lampe, A. K., Kumar, A., Lees, M., Holder-Espinasse, M., McConnell, V., Bernhard, B., Blair, E., Harrison, V., Muzny, D. M., Gibbs, R. A., Elsea, S. H., Posey, J. E., Bi, W., Lalani, S., Xia, F., Yang, Y., Eng, C. M., Lupski, J. R. & Liu, P., Mar 25 2019, In: Genome Medicine. 11, 1, 16.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access
• 2015

  Erratum: Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder (Genetics in Medicine (2014))

  Lee, B., Diaz, G. A., Rhead, W., Lichter-Konecki, U., Feigenbaum, A., Berry, S. A., Mons, C. L., Bartley, J. A., Longo, N., Nagamani, S. C., Berquist, W., Gallagher, R., Bartholomew, D., Harding, C. O., Korson, M. S., McCandless, S. E., Smith, W., Cederbaum, S., Wong, D., Lawrence Merritt, J., & 10 othersSchulze, A., Vockley, J., Kronn, D., Zori, R., Summar, M., Milikien, D. A., Marino, M., Coakley, D. F., Mokhtarani, M. & Scharschmidt, B. F., May 8 2015, In: Genetics in Medicine. 17, 5, p. 427 1 p.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

• Extensive capillary malformation and hemihypertrophy in a 37-week-gestation infant

  Nam, G. H., Allen Merritt, T., Deming, D., Clark, R. D. & Gold, J. A., 2015, In: NeoReviews. 16, 5, p. e326-e332

  Research output: Contribution to journal › Comment/debate › peer-review
• 2013

  Erratum: Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology (Genetics in Medicine (2013) DOI: 10.1038/gim.2013.97)

  Gold, J. A., Ruth, C., Osann, K., Flodman, P., McManus, B., Lee, H. S., Donkervoort, S., Khare, M., Roof, E., Dykens, E., Milller, J. L., Driscoll, D. J., Butler, M. G., Heinemann, J., Cassidy, S. & Kimonis, V. E., Nov 2013, In: Genetics in Medicine. 15, 11, p. 912 1 p.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access