Deborah Lynne Stabley

Pulmonary immune cell transcriptome changes in double-hit model of BPD induced by chorioamnionitis and postnatal hyperoxia; Pediatric Research; (2021).

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR; neurogenetics; (2021).

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects; European Journal of Human Genetics; (2020).

Medically actionable comorbidities in adults with Costello syndrome; American Journal of Medical Genetics, Part A; (2020).

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome; American Journal of Human Genetics; (2019).

Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome; American Journal of Medical Genetics, Part A; (2017).

Cytotoxicity of zardaverine in embryonal rhabdomyosarcoma from a Costello syndrome patient; Frontiers in Oncology; (2017).

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR; Neuromuscular Disorders; (2017).

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp; American Journal of Medical Genetics, Part A; (2017).

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair; American Journal of Medical Genetics, Part A; (2016).

Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism; BMC Urology; (2016).

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 Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion; American Journal of Medical Genetics, Part A; (2016).

Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma; American Journal of Medical Genetics, Part A; (2016).

A phase I trial and viral clearance study of reovirus (Reolysin) in children with relapsed or refractory extra-cranial solid tumors: A Children's Oncology Group Phase I Consortium report; Pediatric Blood and Cancer; (2015).

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome; American Journal of Medical Genetics, Part A; (2015).

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences; American Journal of Medical Genetics, Part A; (2015).

Smn1 and smn2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital pcr; Molecular Genetics and Genomic Medicine; (2015).

Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies; American Journal of Human Genetics; (2015).

An integrated approach for analyzing clinical genomic variant data from next-generation sequencing; Journal of Biomolecular Techniques; (2015).

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28; American Journal of Medical Genetics, Part A; (2014).

Early-lethal costello syndrome due to rare HRAS tandem base substitution (c.35-36GClAA; p.G12E)-Associated pulmonary vascular disease; Pediatric and Developmental Pathology; (2014).

Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis; American Journal of Medical Genetics, Part A; (2013).

Plasma membrane Ca²⁺-ATPase 4 in murine epididymis: Secretion of splice variants in the luminal fluid and a role in sperm maturation; Biology of Reproduction; (2013).

Assessing genotype-phenotype correlation in Costello syndrome using a severity score; Genetics in Medicine; (2013).

Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory; American Journal of Medical Genetics, Part A; (2013).

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; American Journal of Medical Genetics, Part A; (2012).

Normative growth charts for individuals with Costello syndrome; American Journal of Medical Genetics, Part A; (2012).

A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay; American Journal of Medical Genetics, Part A; (2012).

Transmission of the rare HRAS mutation (c. 173C>T; p.T58I) further illustrates its attenuated phenotype; American Journal of Medical Genetics, Part A; (2012).

CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review; American Journal of Medical Genetics, Part A; (2011).

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome; American Journal of Medical Genetics, Part A; (2011).

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C; American Journal of Medical Genetics, Part A; (2011).

Living with Costello syndrome: Quality of life issues in older individuals; American Journal of Medical Genetics, Part A; (2010).

High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density; Osteoporosis International; (2009).

Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome; American Journal of Medical Genetics, Part A; (2009).

Male-to-male transmission of costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism; American Journal of Medical Genetics, Part A; (2009).

Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype?; American Journal of Medical Genetics, Part A; (2008).

Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome; American Journal of Medical Genetics, Part A; (2007).

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome; American Journal of Medical Genetics, Part A; (2007).

Longitudinal assessment of cognitive characteristics in costello syndrome; American Journal of Medical Genetics, Part A; (2007).

HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation; American Journal of Medical Genetics; (2006).

Failure of Shortening and Inversion of the Perinatal Gubernaculum in the Cryptorchid Long-Evans orl Rat; Journal of Urology; (2006).

Murine Spam1 mRNA: Involvement of AU-rich elements in the 3′UTR and antisense RNA in its tight post-transcriptional regulation in spermatids; Molecular Reproduction and Development; (2006).

Paternal bias in parental origin of HRAS mutations in Costello syndrome; Human Mutation; (2006).

Somatic mosaicism for an HRAS mutation causes Costello syndrome; American Journal of Medical Genetics, Part A; (2006).

Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density; European Journal of Human Genetics; (2005).

Exploring whole genome amplification as a DNA recovery tool for molecular genetic studies; Journal of Biomolecular Techniques; (2005).

A PLP splicing abnormality is associated with an unusual presentation of PMD; Annals of Neurology; (2002).

Evolution of placental proteases; Biological Chemistry; (2002).

Evolution of placentally expressed cathepsins; Biochemical and Biophysical Research Communications; (2002).

A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease.; Human mutation; (2001).

PCR identification of class I major histocompatibility complex genes transcribed in mouse blastocyst and placenta; Journal of Reproductive Immunology; (1997).

A new major histocompatibility complex class Ib gene expressed in the mouse blastocyst and placenta; Immunogenetics; (1996).