MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2)

Por King, Richard A., Willaert, Rebecca K., Schmidt, Ramona M., Pietsch, Jacy, Savage, Sarah, Brott, Marcia J., Fryer, James P., Summers, C. Gail, Oetting, William S.
Publicado em 2003

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

Por Tanaka, Akemi J., Cho, Megan T., Willaert, Rebecca, Retterer, Kyle, Zarate, Yuri A., Bosanko, Katie, Stefans, Vikki, Oishi, Kimihiko, Williamson, Amy, Wilson, Golder N., Basinger, Alice, Barbaro-Dieber, Tina, Ortega, Lucia, Sorrentino, Susanna, Gabriel, Melissa K., Anderson, Ilse J., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Chung, Wendy K.
Publicado no Cold Spring Harb Mol Case Stud (2017)

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Por Osborn, Daniel P.S., Pond, Heather L., Mazaheri, Neda, Dejardin, Jeremy, Munn, Christopher J., Mushref, Khaloob, Cauley, Edmund S., Moroni, Isabella, Pasanisi, Maria Barbara, Sellars, Elizabeth A., Hill, R. Sean, Partlow, Jennifer N., Willaert, Rebecca K., Bharj, Jaipreet, Malamiri, Reza Azizi, Galehdari, Hamid, Shariati, Gholamreza, Maroofian, Reza, Mora, Marina, Swan, Laura E., Voit, Thomas, Conti, Francesco J., Jamshidi, Yalda, Manzini, M. Chiara
Publicado no Am J Hum Genet (2017)

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

Por Stern, Diana, Cho, Megan T., Chikarmane, Rashmi, Willaert, Rebecca, Retterer, Kyle, Kendall, Fran, Deardorff, Matthew, Hopkins, Sarah, Bedoukian, Emma, Slavotinek, Anne, Vergano, Samantha Schrier, Spangler, Brooke, McDonald, Marie, McConkie-Rosell, Allyn, Burton, Barbara K., Kim, Katherine H., Oundjian, Nelly, Kronn, David, Chandy, Nandini, Baskin, Berivan, Guillen Sacoto, Maria J., Wentzensen, Ingrid M., McLaughlin, Heather M., McKnight, Dianalee, Chung, Wendy K.
Publicado no Clin Genet (2017)