Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte

Por Quinonez, Shane C., Seeley, Andrea H., Seeterlin, Mary, Stanley, Eleanor, Ahmad, Ayesha
Publicado no Mol Genet Metab Rep (2014)

Macrocerebellum, Epilepsy, Intellectual Disability and Gut Malrotation in a Child with a 16q24.1-q24.2 Contiguous Gene Deletion

Por Seeley, Andrea H., Durham, Mark A., Micale, Mark A., Wesolowski, Jeffrey, Foerster, Bradley R., Martin, Donna M.
Publicado no Am J Med Genet A (2014)

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Por Kim, Jung-Hyun, Shinde, Deepali N., Reijnders, Margot R.F., Hauser, Natalie S., Belmonte, Rebecca L., Wilson, Gregory R., Bosch, Daniëlle G.M., Bubulya, Paula A., Shashi, Vandana, Petrovski, Slavé, Stone, Joshua K., Park, Eun Young, Veltman, Joris A., Sinnema, Margje, Stumpel, Connie T.R.M., Draaisma, Jos M., Nicolai, Joost, Yntema, Helger G., Lindstrom, Kristin, de Vries, Bert B.A., Jewett, Tamison, Santoro, Stephanie L., Vogt, Julie, Bachman, Kristine K., Seeley, Andrea H., Krokosky, Alyson, Turner, Clesson, Rohena, Luis, Hempel, Maja, Kortüm, Fanny, Lessel, Davor, Neu, Axel, Strom, Tim M., Wieczorek, Dagmar, Bramswig, Nuria, Laccone, Franco A., Behunova, Jana, Rehder, Helga, Gordon, Christopher T., Rio, Marlène, Romana, Serge, Tang, Sha, El-Khechen, Dima, Cho, Megan T., McWalter, Kirsty, Douglas, Ganka, Baskin, Berivan, Begtrup, Amber, Funari, Tara, Schoch, Kelly, Stegmann, Alexander P.A., Stevens, Servi J.C., Zhang, Dong-Er, Traver, David, Yao, Xu, MacArthur, Daniel G., Brunner, Han G., Mancini, Grazia M., Myers, Richard M., Owen, Laurie B., Lim, Ssang-Taek, Stachura, David L., Vissers, Lisenka E.L.M., Ahn, Eun-Young Erin
Publicado no Am J Hum Genet (2016)