Mutations in STAG2 cause an X‐linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males

Por Mullegama, Sureni V., Klein, Steven D., Signer, Rebecca H., Vilain, Eric, Martinez‐Agosto, Julian A.
Publicado no Mol Genet Genomic Med (2018)

Cases from the Undiagnosed Diseases Network: The Continued Value of Counseling Skills in a New Genomic Era

Por Macnamara, Ellen F., Schoch, Kelly, Kelley, Emily G., Fieg, Elizabeth, Brokamp, Elly, Signer, Rebecca, LeBlanc, Kimberly, McConkie-Rosell, Allyn, Palmer, Christina G.S.
Publicado no J Genet Couns (2019)

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

Por Deisseroth, Cole A., Birgmeier, Johannes, Bodle, Ethan E., Kohler, Jennefer N., Matalon, Dena R., Nazarenko, Yelena, Genetti, Casie A., Brownstein, Catherine A., Schmitz-Abe, Klaus, Schoch, Kelly, Cope, Heidi, Signer, Rebecca, Martinez-Agosto, Julian A., Shashi, Vandana, Beggs, Alan H., Wheeler, Matthew T., Bernstein, Jonathan A., Bejerano, Gill
Publicado no Genet Med (2018)