A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation

por Blackburn, Patrick R., Williams, Monique, Cousin, Margot A., Boczek, Nicole J., Beek, Geoffrey J., Lomberk, Gwen A., Urrutia, Raul A., Babovic‐Vuksanovic, Dusica, Klee, Eric W.
Publicado en Mol Genet Genomic Med (2017)

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

por Boczek, Nicole J., Hopp, Katharina, Benoit, Lacey, Kraft, Daniel, Cousin, Margot A., Blackburn, Patrick R., Madsen, Charles D., Oliver, Gavin R., Nair, Asha A., Na, Jie, Bianchi, Diana W., Beek, Geoffrey, Harris, Peter C., Pichurin, Pavel, Klee, Eric W.
Publicado en Eur J Hum Genet (2018)

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

por Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y., Silva, Ana P.G., Lee, Hane, Douine, Emilie D., Otero, Maria G., Choi, Andrew, Grand, Katheryn, Taff, Ingrid P., Delgado, Mauricio R., Hajianpour, MJ, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W., Vergano, Samantha A., Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E., Challman, Thomas D., Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J., Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D.M., Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A., Hurst, Jane, Fitzpatrick, David R., Morton, Jenny E.V., Cox, Helen, Venkateswaran, Sunita, Young, Juan I., Marsh, Eric D., Nelson, Stanley F., Martinez, Julian A., Graham, John M., Kini, Usha, Mackay, Joel P., Pierson, Tyler Mark
Publicado en Genet Med (2020)