Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements

A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter

(2013) Atsushi Fujita et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Subcortical white matter abnormalities because of previously undescribed de-novo 14q12–q13.1 triplication

(2013) Gillian Rea et al.   CLINICAL DYSMORPHOLOGY

Phenotypic impact of genomic structural variation: insights from and for human disease

(2013) Joachim Weischenfeldt et al.   NATURE REVIEWS GENETICS

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

(2013) Toshiyuki Yamamoto et al.   Molecular Cytogenetics

Balanced complex chromosome rearrangements: Reproductive aspects. A review

(2012) Kamlesh Madan   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mechanisms for recurrent and complex human genomic rearrangements

(2012) Pengfei Liu et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

(2012) Kristen Lipscomb Sund et al.   GENETICS IN MEDICINE

UPD detection using homozygosity profiling with a SNP genotyping microarray

(2011) Peter Papenhausen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations

(2011) Hutton M. Kearney et al.   CLINICS IN LABORATORY MEDICINE

FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation

(2011) George Koumbaris et al.   HUMAN MOLECULAR GENETICS

Small Supernumerary Marker Chromosomes and Uniparental Disomy Have a Story to Tell

(2011) Thomas Liehr et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

(2011) Claudia M B Carvalho et al.   NATURE GENETICS

Cytogenetic contribution to uniparental disomy (UPD)

(2010) Thomas Liehr   Molecular Cytogenetics

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

4.3-Mb triplication of 4q32.1-q32.2: Report of a family through two generations

(2009) Jia-Chi Wang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

(2008) Katharina Engel et al.   HUMAN MUTATION