Enhanced Sensitivity for Detection of Low-Level Germline MosaicRB1Mutations in Sporadic Retinoblastoma Cases Using Deep Semiconductor Sequencing-Reference-Cited by-同舟云学术

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

Published:2013-12-20 Issue:3 Volume:35 Page:384-391
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Chen Zhao¹,Moran Kimberly¹,Richards-Yutz Jennifer¹,Toorens Erik²,Gerhart Daniel²,Ganguly Tapan²,Shields Carol L.³,Ganguly Arupa¹

Affiliation:

1. Genetic Diagnostic Laboratory; Department of Genetics, Perelman School of Medicine, University of Pennsylvania; Philadelphia Pennsylvania

2. DNA Sequencing Facility, Department of Genetics, Perelman School of Medicine, University of Pennsylvania; Philadelphia Pennsylvania

3. Wills Eye Institute; Thomas Jefferson University; Philadelphia Pennsylvania

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22488/fullpdf

Reference13 articles.

1. Hereditary retinoblastoma transmitted by maternal germline mosaicism;Barbosa;Pediatr Blood Cancer,2008

2. Incidence of retinoblastoma in the USA: 1975-2004;Broaddus;Br J Ophthalmol,2009

3. Dietmar R Lohmann Brenda L Gallie 2013 Retinoblastoma http://www.ncbi.nlm.nih.gov/books/NBK1452/

4. Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene;Dryja;Hum Genet,1997

5. Predictive testing for retinoblastoma comes of age;Gallie;Am J Hum Genet,1997

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2. A novel de-novo RB1 mutation identified in a patient with bilateral retinoblastoma;Japanese Journal of Clinical Oncology;2023-06-21

3. Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2;Genes;2023-02-15

4. PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency;Frontiers in Neurology;2022-11-03

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