Molecular and phenotypic abnormalities of B lymphocytes in patients with Wiskott-Aldrich syndrome

Por Simon, Karen L., Anderson, Stacie, Garabedian, Elizabeth K., Moratto, Daniele, Sokolic, Robert A., Candotti, Fabio
Publicado em 2013

Age-Dependent Defects of Regulatory B Cells in Wiskott-Aldrich Syndrome Gene Knockout Mice

Por Yokoyama, Tadafumi, Yoshizaki, Ayumi, Simon, Karen L., Kirby, Martha R., Anderson, Stacie M., Candotti, Fabio
Publicado no PLoS One (2015)

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B

Por Ferreira, Carlos R., Chen, Dong, Abraham, Shirley M., Adams, David R., Simon, Karen L., Malicdan, May C., Markello, Thomas C., Gunay-Aygun, Meral, Gahl, William A.
Publicado no Mol Genet Metab (2016)

Clinical and Molecular Phenotyping of a Child with Hermansky-Pudlak Syndrome-7, an Uncommon Genetic Type of HPS

Por Bryan, Melanie M., Tolman, Nathanial, Simon, Karen L., Huizing, Marjan, Hufnagel, Robert B., Brooks, Brian P., Speransky, Vladislav, Mullikin, James C., Gahl, William A., Malicdan, May Christine V., Gochuico, Bernadette R.
Publicado no Mol Genet Metab (2017)

Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

Por Berger, Seth I., Ciccone, Carla, Simon, Karen L., Malicdan, May Christine, Vilboux, Thierry, Billington, Charles, Fischer, Roxanne, Introne, Wendy J., Gropman, Andrea, Blancato, Jan K., Mullikin, James C., Gahl, William A., Huizing, Marjan, Smith, Ann C. M.
Publicado no Hum Genet (2017)

Identification of a Novel Mutation in HPS6 in a Patient with Hemophilia B and Oculocutaneous Albinism

Por O’Brien, Kevin J., Lozier, Jay, Cullinane, Andrew R., Osorio, Brigitte, Nghiem, Khanh, Speransky, Vladislav, Zein, Wadih M., Mullikin, James C., Neff, Anne T., Simon, Karen L., Malicdan, May Christine V., Gahl, William A., Young, Lisa R., Gochuico, Bernadette R.
Publicado no Mol Genet Metab (2016)