A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part
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Molecular diagnostic experience of whole-exome sequencing in adult patients - ScienceDirect
Chumei Li's research works McMaster University, Hamilton (McMaster) and other places
Chumei Li's research works McMaster University, Hamilton (McMaster) and other places
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management
Molecular diagnostic experience of whole-exome sequencing in adult patients
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children, Orphanet Journal of Rare Diseases
Chumei Li's research works McMaster University, Hamilton (McMaster) and other places
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