Exploring Whole Genome Amplification as a DNA Recovery Tool for Molecular Genetic Studies

द्वारा Holbrook, Jennifer Frenck, Stabley, Deborah, Sol-Church, Katia
प्रकाशित 2005

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...

द्वारा Robbins, Katherine M., Stabley, Deborah L., Holbrook, Jennifer, Gripp, Karen W., Sol-Church, Katia
प्रकाशित 2013

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

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

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

द्वारा Axelrad, Marni E., Schwartz, David D., Fehlis, Julie, Hopkins, Elizabeth, Stabley, Deborah L., Church, Katia Sol, Gripp, Karen W.
प्रकाशित 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

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

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

द्वारा Schwartz, David, Katzenstein, Jennifer M., Highley, Eric J., Stabley, Deborah L., Sol-Church, Katia, Gripp, Karen W., Axelrad, Marni
में प्रकाशित Am J Med Genet A (2017)

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

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

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

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

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

द्वारा Bertola, Débora, Buscarilli, Michelle, Stabley, Deborah L., Baker, Laura, Doyle, Daniel, Bartholomew, Dennis W., Sol-Church, Katia, Gripp, Karen W.
में प्रकाशित Am J Med Genet A (2017)

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

द्वारा Gripp, Karen W., Baker, Laura, Robbins, Katherine M., Stabley, Deborah L., Bellus, Gary A., Kolbe, Verena, Nauth, Theresa, Rosenberger, Georg
में प्रकाशित Eur J Hum Genet (2020)

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

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

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

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

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

द्वारा Stabley, Deborah L., Holbrook, Jennifer, Harris, Ashlee W., Swoboda, Kathryn J., Crawford, Thomas O., Sol-Church, Katia, Butchbach, Matthew E. R.
में प्रकाशित Neuromuscul Disord (2017)

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

द्वारा Crowgey, Erin L., Stabley, Deborah L., Chen, Chuming, Huang, Hongzhan, Robbins, Katherine M., Polson, Shawn W., Sol-Church, Katia, Wu, Cathy H.
में प्रकाशित J Biomol Tech (2015)

Paternal Uniparental Disomy 11p15.5 in the Pancreatic Nodule of an Infant With Costello Syndrome: Shared Mechanism for Hyperinsulinemic Hypoglycemia in Neonates With Costello and B...

द्वारा Gripp, Karen W., Robbins, Katherine M., Sheffield, Brandon S., Lee, Anna F., Patel, Millan S., Yip, Stephen, Doyle, Daniel, Stabley, Deborah, Sol-Church, Katia
में प्रकाशित Am J Med Genet A (2015)

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

द्वारा Robbins, Katherine M., Stabley, Deborah L., Holbrook, Jennifer, Sahraoui, Rebecca, Sadreameli, Alexa, Conard, Katrina, Baker, Laura, Gripp, Karen W., Sol-Church, Katia
में प्रकाशित Am J Med Genet A (2016)

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

द्वारा 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
प्रकाशित 2014

Early-Lethal Costello syndrome due to rare HRAS tandem base substitution (c.35_36GC>AA; p.G12E) associated pulmonary vascular disease

द्वारा Nicole Weaver, K., Wang, Dehua, Cnota, James, Gardner, Nicholas, Stabley, Deborah, Sol-Church, Katia, Gripp, Karen W., Witte, David P., Bove, Kevin E., Hopkin, Robert J.
में प्रकाशित Pediatr Dev Pathol (2014)

A Novel Rasopathy Caused by Recurrent De Novo Missense Mutations In PPP1CB Closely Resembles Noonan Syndrome with Loose Anagen Hair

द्वारा Gripp, Karen W., Aldinger, Kimberly A., Bennett, James T., Baker, Laura, Tusi, Jessica, Powell-Hamilton, Nina, Stabley, Deborah, Sol-Church, Katia, Timms, Andrew E., Dobyns, William B.
में प्रकाशित Am J Med Genet A (2016)

Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient

द्वारा 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.
में प्रकाशित Front Oncol (2017)