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
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
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
30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_1.xlsx › Sheet1
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Hendricks AE et al.
Scientific Reports, 2017
28663568 (PubMed )
Supplement: 41598_2017_3054_MOESM1_ESM.xlsx › Supplementary_Table_2
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
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