High frequency of copy number imbalances in Rubinstein–Taybi
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Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review, Orphanet Journal of Rare Diseases
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PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach
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Genes, Free Full-Text
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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans - ScienceDirect
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SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements
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Frontiers Genetic Predisposition to Solid Pediatric Cancers
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Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
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Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes
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PDF) Electroclinical phenotype in Rubinstein–Taybi syndrome
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PDF) New dysmorphic features in Rubinstein-Taybi syndrome
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Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans - ScienceDirect
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Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future - Shaffer - 2007 - American Journal of Medical Genetics Part C: Seminars
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PDF) Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene
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