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

Yazar: Holbrook, Jennifer Frenck, Stabley, Deborah, Sol-Church, Katia
Baskı/Yayın Bilgisi 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...

Yazar: Robbins, Katherine M., Stabley, Deborah L., Holbrook, Jennifer, Gripp, Karen W., Sol-Church, Katia
Baskı/Yayın Bilgisi 2013

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

Yazar: Gripp, Karen W., Hopkins, Elizabeth, Serrano, Alvaro, Leonard, Norma J., Stabley, Deborah L., Sol-Church, Katia
Baskı/Yayın Bilgisi 2012

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

Yazar: Axelrad, Marni E., Schwartz, David D., Fehlis, Julie, Hopkins, Elizabeth, Stabley, Deborah L., Church, Katia Sol, Gripp, Karen W.
Baskı/Yayın Bilgisi 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

Yazar: Gripp, Karen W., Bifeld, Eugenia, Stabley, Deborah L., Hopkins, Elizabeth, Meien, Stefanie, Vinette, Kathy, Sol-Church, Katia, Rosenberger, Georg
Baskı/Yayın Bilgisi 2012

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

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

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

Yazar: Gripp, Karen W., Stabley, Deborah L., Geller, Peter L., Hopkins, Elizabeth, Stevenson, David A., Carey, John C., Sol-Church, Katia
Baskı/Yayın Bilgisi 2011

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

Yazar: Schwartz, David D., Katzenstein, Jennifer M., Hopkins, Elisabeth, Stabley, Deborah L., Sol-Church, Katia, Gripp, Karen W., Axelrad, Marni E.
Baskı/Yayın Bilgisi 2013

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

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

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

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

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

Yazar: Sol-Church, Katia, Stabley, Deborah L., Demmer, Laurie A, Agbulos, Abigail, Lin, Angela E., Smoot, Leslie, Nicholson, Linda, Gripp, Karen W.
Baskı/Yayın Bilgisi 2009

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

Yazar: Patel, Ramkrishna, Al-Dossary, Amal A., Stabley, Deborah L., Barone, Carol, Galileo, Deni S., Strehler, Emanuel E., Martin-DeLeon, Patricia A.
Baskı/Yayın Bilgisi 2013

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

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

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

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

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

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

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

Yazar: 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
Baskı/Yayın Bilgisi 2014

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

Yazar: 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.
Yayımlandı Pediatr Dev Pathol (2014)

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

Yazar: 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.
Yayımlandı Am J Med Genet A (2016)

Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient

Yazar: 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.
Yayımlandı Front Oncol (2017)