Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

Por Griggs, Bradley L, Ladd, Sydney, Saul, Robert A, DuPont, Barbara R, Srivastava, Anand K
Publicado em 2007

Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus

Por Griggs, Bradley L, Ladd, Sydney, Decker, Amy, DuPont, Barbara R, Asamoah, Alexander, Srivastava, Anand K
Publicado em 2009

Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature

Por Dukes-Rimsky, Lynn, Guzauskas, Gregory F., Holden, Kenton R., Griggs, Rachel, Ladd, Sydney, del Carmen Montoya, Maria, DuPont, Barbara R., Srivastava, Anand K.
Publicado em 2011

Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism

Por Dwivedi, Alka Chaubey nee, Lyons, Michael J, Kwiatkowski, Kat, Bartel, Frank O, Friez, Michael J, Holden, Kenton R, Fung, Eric T, DuPont, Barbara R
Publicado no Mol Cytogenet (2014)

Importance of genetic testing in global health during the evaluation of familial microcephaly

Por Molinero, Isaac, Broman‐Fulks, Jordan, Lyons, Michael J., Matheus, Maria Gisele, Chaubey, Alka, DuPont, Barbara R., Friez, Michael J., Skinner, Steve A., Holden, Kenton R.
Publicado no Clin Case Rep (2016)

Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability

Por Bhalla, Kavita, Luo, Yue, Buchan, Tim, Beachem, Michael A., Guzauskas, Gregory F., Ladd, Sydney, Bratcher, Shelly J., Schroer, Richard J., Balsamo, Janne, DuPont, Barbara R., Lilien, Jack, Srivastava, Anand K.
Publicado em 2008

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

Por Armour, Christine M, Bulman, Dennis E, Jarinova, Olga, Rogers, Richard Curtis, Clarkson, Kate B, DuPont, Barbara R, Dwivedi, Alka, Bartel, Frank O, McDonell, Laura, Schwartz, Charles E, Boycott, Kym M, Everman, David B, Graham, Gail E
Publicado em 2011

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome

Por Vieira, Gustavo H, Rodriguez, Jayson D, Carmona-Mora, Paulina, Cao, Lei, Gamba, Bruno F, Carvalho, Daniel R, de Rezende Duarte, Andréa, Santos, Suely R, de Souza, Deise H, DuPont, Barbara R, Walz, Katherina, Moretti-Ferreira, Danilo, Srivastava, Anand K
Publicado em 2012