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| 35875410 | Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder. | Otolaryngology Case Reports | 2021 |
| 30554721 | GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. | Am J Hum Genet | 2019 |
| 28289718 | Elucidation of <i>MRAS</i>-mediated Noonan syndrome with cardiac hypertrophy. | JCI Insight | 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 |
| 28284873 | Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR. | Neuromuscul Disord | 2017 |
| 27769252 | Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism. | BMC Urol | 2016 |
| 25959749 | Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. | Clinical Genetics | 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 |
| 26502805 | Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat. | Molecular Human Reproduction | 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 |
| 23429430 | Assessing genotype-phenotype correlation in Costello syndrome using a severity score. | Genetics in Medicine | 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 |
| 23155703 | A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism. | Journal of Pediatric Endocrinology and Metabolism | 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 |
| 22711505 | A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay. | 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 |
| 21344638 | Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. | 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 |
| 21495173 | Cardio-facio-cutaneous syndrome: does genotype predict phenotype? | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 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 |
| 19382114 | Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia. | Prenat Diagn | 2009 |
| 19919001 | Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome. | American Journal of Medical Genetics, Part A | 2009 |
| 18561328 | Novel surface expression of reticulocalbin 1 on bone endothelial cells and human prostate cancer cells is regulated by TNF-alpha. | J Cell Biochem | 2008 |
| 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 |
| 17228994 | Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass. | J Bone Miner Res | 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 |