Associated Papers
RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome.
Leong WY et al.
Plos Genetics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
Guo F et al.
Human Mutation, 2024
Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.
Cassim A et al.
Orphanet Journal of Rare Diseases, 2022
Carpenter syndrome in a patient from Tanzania.
Lodhia J et al.
American Journal of Medical Genetics. Part A, 2021
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Hendricks AE et al.
Scientific Reports, 2017
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
Prenatal findings in carpenter syndrome and a novel mutation in RAB23.
Haye D et al.
American Journal of Medical Genetics. Part A, 2014
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.
Trakadis YJ et al.
Bmc Medical Genomics, 2014
Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.
Victorine AS et al.
American Journal of Medical Genetics. Part A, 2014
A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.
Ben-Salem S et al.
Molecular Syndromology, 2013
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.
Jenkins D et al.
Human Mutation, 2011
RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.
Alessandri JL et al.
American Journal of Medical Genetics. Part A, 2010
Lessons from extreme human obesity: monogenic disorders.
Ranadive SA et al.
Endocrinology and Metabolism Clinics of North America, 2008
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
Jenkins D et al.
American Journal of Human Genetics, 2007