Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype–phenotype relationships

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

(2018) Valentina Imperatore et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

(2016) Catherine Dehainault et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families

(2016) Wenhui L. Li et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

(2015) Sara Amitrano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Pediatric second primary malignancies after retinoblastoma treatment

(2015) Petra Temming et al.   PEDIATRIC BLOOD & CANCER

Retinoblastoma

(2015) Helen Dimaras et al.   Nature Reviews Disease Primers

Detecting somatic mosaicism: considerations and clinical implications

(2014) A.S.A. Cohen et al.   CLINICAL GENETICS

Risk of Subsequent Malignant Neoplasms in Long-Term Hereditary Retinoblastoma Survivors After Chemotherapy and Radiotherapy

(2014) Jeannette R. Wong et al.   JOURNAL OF CLINICAL ONCOLOGY

Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome

(2013) Sonja Beicht et al.   GENE

Enhanced Sensitivity for Detection of Low-Level Germline MosaicRB1Mutations in Sporadic Retinoblastoma Cases Using Deep Semiconductor Sequencing

(2013) Zhao Chen et al.   HUMAN MUTATION

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Variation of Second Cancer Risk by Family History of Retinoblastoma Among Long-Term Survivors

(2012) Ruth A. Kleinerman et al.   JOURNAL OF CLINICAL ONCOLOGY

Retinoblastoma

(2012) Helen Dimaras et al.   LANCET

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

(2011) Alistair T Pagnamenta et al.   JOURNAL OF HUMAN GENETICS

Detection of mosaicRB1mutations in families with retinoblastoma

(2009) Diane Rushlow et al.   HUMAN MUTATION

Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques

(2009) Anna Rohlin et al.   HUMAN MUTATION