A Pathogenic Mosaic TP53 Mutation in Two Germ Layers Detected by Next Generation Sequencing

Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma

(2013) Patrick S Tarpey et al.   NATURE GENETICS

Genome Mosaicism--One Human, Multiple Genomes

(2013) J. R. Lupski   SCIENCE

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

(2012) Gilad D. Evrony et al.   CELL

Number of rare germline CNVs and TP53 mutation types

(2012) Amanda G Silva et al.   Orphanet Journal of Rare Diseases

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study

(2011) Anita Villani et al.   LANCET ONCOLOGY

Somatic retrotransposition alters the genetic landscape of the human brain

(2011) J. Kenneth Baillie et al.   NATURE

Detection of mosaicRB1mutations in families with retinoblastoma

(2009) Diane Rushlow et al.   HUMAN MUTATION

TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis

(2009) V Marcel et al.   JOURNAL OF MEDICAL GENETICS

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE

SomaticTP53mutation mosaicism in a patient with Li-Fraumeni syndrome

(2008) Kamila Prochazkova et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome

(2008) A. Shlien et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA