Characterization of large deletions in theF8gene using multiple competitive amplification and the genome walking technique

A Functional Copy-Number Variation in MAPKAPK2 Predicts Risk and Prognosis of Lung Cancer

(2012) Bin Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis

(2012) S. C. Gouw et al.   BLOOD

Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification

(2012) Renqian Du et al.   JOURNAL OF HUMAN GENETICS

The status of carrier and prenatal diagnosis of haemophilia in China

(2011) J. DAI et al.   HAEMOPHILIA

Characterization of duplication breakpoints in the factor VIII gene

(2010) M. A. ZIMMERMANN et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Characterisation of two novel large F8 deletions in patients with severe haemophilia A and factor VIII inhibitors

(2010) Rolf Marschalek et al.   THROMBOSIS AND HAEMOSTASIS

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

Detection of New Deletions in a Group of Italian Patients with Hemophilia A by Multiplex Ligation–Dependent Probe Amplification

(2009) Rosa Santacroce et al.   Genetic Testing and Molecular Biomarkers

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

(2009) Lisenka E.L.M. Vissers et al.   HUMAN MOLECULAR GENETICS

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

(2008) M. Bauters et al.   GENOME RESEARCH

Double-strand breaks associated with repetitive DNA can reshape the genome

(2008) J. L. Argueso et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA