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

по Holbrook, Jennifer Frenck, Stabley, Deborah, Sol-Church, Katia
Опубликовано 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...

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

по Crowgey, Erin L., Stabley, Deborah L., Chen, Chuming, Huang, Hongzhan, Robbins, Katherine M., Polson, Shawn W., Sol-Church, Katia, Wu, Cathy H.
Опубликовано в: 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...

по Gripp, Karen W., Robbins, Katherine M., Sheffield, Brandon S., Lee, Anna F., Patel, Millan S., Yip, Stephen, Doyle, Daniel, Stabley, Deborah, Sol-Church, Katia
Опубликовано в: 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

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

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

по 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
Опубликовано 2014

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

по 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.
Опубликовано в: Pediatr Dev Pathol (2014)

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

по 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.
Опубликовано в: Am J Med Genet A (2016)

Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient

по 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.
Опубликовано в: Front Oncol (2017)