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| 36735491 | The Intestinal Tract Brush Border in Young Children Uniformly Expresses Guanylate Cyclase C. | | 2023 |
| 33415588 | Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. | Neurogenetics | 2021 |
| 35875410 | Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder. | Otolaryngology Case Reports | 2021 |
| 33446917 | Pulmonary immune cell transcriptome changes in double-hit model of BPD induced by chorioamnionitis and postnatal hyperoxia. | Pediatric Research | 2021 |
| 32499600 | The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects. | European Journal of Human Genetics | 2020 |
| 31680412 | Medically actionable comorbidities in adults with Costello syndrome. | American Journal of Medical Genetics, Part A | 2020 |
| 30554721 | GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. | Am J Hum Genet | 2019 |
| 28284873 | Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR. | Neuromuscul Disord | 2017 |
| 28421158 | Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient. | Frontiers in Oncology | 2017 |
| 28374929 | 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 |
| 28371260 | Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. | American Journal of Medical Genetics, Part A | 2017 |
| 27769252 | Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism. | BMC Urol | 2016 |
| 27264673 | A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. | Am J Med Genet A | 2016 |
| 26572961 | 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 s | American Journal of Medical Genetics, Part A | 2016 |
| 27589201 | 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 |
| 26247043 | SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR. | Mol Genet Genomic Med | 2015 |
| 25914166 | 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 |
| 25865493 | Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. | Am J Hum Genet | 2015 |
| 25394726 | Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. | Am J Med Genet A | 2015 |
| 25649353 | An integrated approach for analyzing clinical genomic variant data from next-generation sequencing. | J Biomol Tech | 2015 |
| 25728527 | 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 |
| 25133308 | Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular disease. | Pediatric and Developmental Pathology | 2014 |
| 24942156 | Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. | Am J Med Genet A | 2014 |
| 23699388 | 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 |
| 23918763 | Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. | Am J Med Genet A | 2013 |
| 23918324 | 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 |
| 23429430 | Assessing genotype-phenotype correlation in Costello syndrome using a severity score. | Genetics in Medicine | 2013 |
| 22711505 | A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay. | American Journal of Medical Genetics, Part A | 2012 |
| 22887473 | Normative growth charts for individuals with Costello syndrome. | Am J Med Genet A | 2012 |
| 22488832 | Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype. | American Journal of Medical Genetics, Part A | 2012 |
| 22821884 | 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 |
| 21834037 | Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. | American Journal of Medical Genetics, Part A | 2011 |
| 21438134 | Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. | Am J Med Genet A | 2011 |
| 21337689 | 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 |
| 20034064 | Living with Costello syndrome: quality of life issues in older individuals. | Am J Med Genet A | 2010 |
| 18597038 | High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density. | Osteoporosis International | 2009 |
| 19206176 | Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. | Am J Med Genet A | 2009 |
| 19919001 | Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome. | American Journal of Medical Genetics, Part A | 2009 |
| 18247425 | Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? | American Journal of Medical Genetics, Part A | 2008 |
| 17963256 | Longitudinal assessment of cognitive characteristics in Costello syndrome. | American Journal of Medical Genetics, Part A | 2007 |
| 17567882 | Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. | American Journal of Medical Genetics, Part A | 2007 |
| 17551924 | Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. | Am J Med Genet A | 2007 |
| 16329078 | HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. | Am J Med Genet A | 2006 |
| 16969868 | Somatic mosaicism for an HRAS mutation causes Costello syndrome. | American Journal of Medical Genetics, Part A | 2006 |
| 16250006 | 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 |
| 16952701 | Failure of shortening and inversion of the perinatal gubernaculum in the cryptorchid long-evans orl rat. | Journal of Urology | 2006 |
| 16835863 | Paternal bias in parental origin of HRAS mutations in Costello syndrome. | Human Mutation | 2006 |
| 16030319 | Exploring whole genome amplification as a DNA recovery tool for molecular genetic studies. | Journal of Biomolecular Techniques | 2005 |
| 15827564 | 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 |
| 12054558 | Evolution of placentally expressed cathepsins. | Biochemical and Biophysical Research Communications | 2002 |