Uniparental Disomy is Associated with Embryonal Rhabdomyosarcoma in Costello Syndrome and Nonsyndromic Patients: From Core-Side to Bed-Side and Back Again, Impact of Core Laborator...

Por Robbins, Katherine M., Stabley, Deborah L., Holbrook, Jennifer, Gripp, Karen W., Sol-Church, Katia
Publicado em 2013

Transmission of the Rare HRAS Mutation (c. 173C > T; p.T58I) Further Illustrates Its Attenuated Phenotype

Por Gripp, Karen W., Hopkins, Elizabeth, Serrano, Alvaro, Leonard, Norma J., Stabley, Deborah L., Sol-Church, Katia
Publicado em 2012

Longitudinal Course of Cognitive, Adaptive and Behavioral Characteristics in Costello Syndrome

Por Axelrad, Marni E., Schwartz, David D., Fehlis, Julie, Hopkins, Elizabeth, Stabley, Deborah L., Church, Katia Sol, Gripp, Karen W.
Publicado em 2009

A Novel HRAS Substitution (c.266C>G; p.S89C) Resulting in Decreased Downstream Signaling Suggests a New Dimension of RAS Pathway Dysregulation in Human Development

Por Gripp, Karen W., Bifeld, Eugenia, Stabley, Deborah L., Hopkins, Elizabeth, Meien, Stefanie, Vinette, Kathy, Sol-Church, Katia, Rosenberger, Georg
Publicado em 2012

Age-Related Differences in Prevalence of Autism Spectrum Disorder Symptoms in Children and Adolescents with Costello Syndrome

Por Schwartz, David, Katzenstein, Jennifer M., Highley, Eric J., Stabley, Deborah L., Sol-Church, Katia, Gripp, Karen W., Axelrad, Marni
Publicado no Am J Med Genet A (2017)

Molecular Confirmation of HRAS p.G12S in Siblings with Costello Syndrome

Por Gripp, Karen W., Stabley, Deborah L., Geller, Peter L., Hopkins, Elizabeth, Stevenson, David A., Carey, John C., Sol-Church, Katia
Publicado em 2011

Verbal Memory Functioning in Adolescents and Young Adults with Costello Syndrome: Evidence for Relative Preservation in Recognition Memory

Por Schwartz, David D., Katzenstein, Jennifer M., Hopkins, Elisabeth, Stabley, Deborah L., Sol-Church, Katia, Gripp, Karen W., Axelrad, Marni E.
Publicado em 2013

Phenotypic Spectrum of Costello Syndrome Individuals Harboring the Rare HRAS Mutation p.Gly13Asp

Por Bertola, Débora, Buscarilli, Michelle, Stabley, Deborah L., Baker, Laura, Doyle, Daniel, Bartholomew, Dennis W., Sol-Church, Katia, Gripp, Karen W.
Publicado no Am J Med Genet A (2017)

Male to Male Transmission of Costello Syndrome: G12S HRAS Germline Mutation Inherited from a Father with Somatic Mosaicism

Por Sol-Church, Katia, Stabley, Deborah L., Demmer, Laurie A, Agbulos, Abigail, Lin, Angela E., Smoot, Leslie, Nicholson, Linda, Gripp, Karen W.
Publicado em 2009

Plasma Membrane Ca(2+)-ATPase 4 in Murine Epididymis: Secretion of Splice Variants in the Luminal Fluid and a Role in Sperm Maturation

Por Patel, Ramkrishna, Al-Dossary, Amal A., Stabley, Deborah L., Barone, Carol, Galileo, Deni S., Strehler, Emanuel E., Martin-DeLeon, Patricia A.
Publicado em 2013

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR

Por Stabley, Deborah L., Holbrook, Jennifer, Harris, Ashlee W., Swoboda, Kathryn J., Crawford, Thomas O., Sol-Church, Katia, Butchbach, Matthew E. R.
Publicado no Neuromuscul Disord (2017)

An Integrated Approach for Analyzing Clinical Genomic Variant Data from Next-Generation Sequencing

Por Crowgey, Erin L., Stabley, Deborah L., Chen, Chuming, Huang, Hongzhan, Robbins, Katherine M., Polson, Shawn W., Sol-Church, Katia, Wu, Cathy H.
Publicado no J Biomol Tech (2015)

Paternal Uniparental Disomy with Segmental Loss of Heterozygosity of Chromosome 11 are Hallmark Characteristics of Syndromic and Sporadic Embryonal Rhabdomyosarcoma

Por Robbins, Katherine M., Stabley, Deborah L., Holbrook, Jennifer, Sahraoui, Rebecca, Sadreameli, Alexa, Conard, Katrina, Baker, Laura, Gripp, Karen W., Sol-Church, Katia
Publicado no Am J Med Genet A (2016)

Diamond-Blackfan Anemia with Mandibulofacial Dystostosis is Heterogeneous, Including the Novel DBA Genes TSR2 and RPS28

Por Gripp, Karen W., Curry, Cynthia, Olney, Ann Haskins, Sandoval, Claudio, Fisher, Jamie, Chong, Jessica Xiao-Ling, Pilchman, Lisa, Sahraoui, Rebecca, Stabley, Deborah L., Sol-Church, Katia
Publicado em 2014

Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient

Por Cartledge, Donna M., Robbins, Katherine M., Drake, Katherine M., Sternberg, Rachel, Stabley, Deborah L., Gripp, Karen W., Kolb, E. Anders, Sol-Church, Katia, Napper, Andrew D.
Publicado no Front Oncol (2017)

Expanding the SHOC2 Mutation Associated Phenotype of Noonan Syndrome with Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis

Por Gripp, Karen W., Zand, Dina J., Demmer, Laurie, Anderson, Carol E., Dobyns, William B., Zackai, Elaine H., Denenberg, Elizabeth, Jenny, Kim, Stabley, Deborah L., Sol-Church, Katia
Publicado em 2013

A Newly Recognized Syndrome With Characteristic Facial Features, Skeletal Dysplasia, and Developmental Delay

Por Baratela, Wagner A.R., Bober, Michael B., Tiller, George E., Okenfuss, Ericka, Ditro, Colleen, Duker, Angela, Krakow, Deborah, Stabley, Deborah L., Sol-Church, Katia, Mackenzie, William, Lachman, Ralph, Scott, Charles I.
Publicado em 2012

An Attenuated Phenotype of Costello Syndrome in Three Unrelated Individuals with a HRAS c.179G>A (p.Gly60Asp) Correlates with Uncommon Functional Consequences

Por Gripp, Karen W., Sol-Church, Katia, Smpokou, Patroula, Graham, Gail E., Stevenson, David A., Hanson, Heather, Viskochil, David H., Baker, Laura C., Russo, Bridget, Gardner, Nick, Stabley, Deborah L., Kolbe, Verena, Rosenberger, Georg
Publicado no Am J Med Genet A (2015)

Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome

Por Gripp, Karen W., Robbins, Katherine M., Sobreira, Nara L., Witmer, P. Dane, Bird, Lynne M., Avela, Kristiina, Makitie, Outi, Alves, Daniela, Hogue, Jacob S., Zackai, Elaine H., Doheny, Kimberly F., Stabley, Deborah L., Sol-Church, Katia
Publicado no Am J Med Genet A (2014)

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

Por Stabley, Deborah L, Harris, Ashlee W, Holbrook, Jennifer, Chubbs, Nicholas J, Lozo, Kevin W, Crawford, Thomas O, Swoboda, Kathryn J, Funanage, Vicky L, Wang, Wenlan, Mackenzie, William, Scavina, Mena, Sol-Church, Katia, Butchbach, Matthew E R
Publicado no Mol Genet Genomic Med (2015)