Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2

Another Family with a Euchromatic Duplication Variant of 9q13-q21.1 Derived from Segmentally Duplicated Pericentromeric Euchromatin

(2013) J.C.K. Barber et al.   CYTOGENETIC AND GENOME RESEARCH

Heteromorphic variants of chromosome 9

(2013) Nadezda Kosyakova et al.   Molecular Cytogenetics

A Novel Pseudo-Dicentric Variant of 16p11.2–q11.2 Contains Euchromatin from 16p11.2–p11.1 and Resembles Pathogenic Duplications of Proximal 16q

(2012) J.C.K. Barber et al.   CYTOGENETIC AND GENOME RESEARCH

16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

(2012) John C K Barber et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

CCL3L1 copy number and susceptibility to malaria

(2012) Danielle Carpenter et al.   INFECTION GENETICS AND EVOLUTION

 -defensin Genomic Copy Number Is Associated With HIV Load and Immune Reconstitution in Sub-Saharan Africans

(2012) R. J. Hardwick et al.   JOURNAL OF INFECTIOUS DISEASES

Association of β-Defensin Copy Number and Psoriasis in Three Cohorts of European Origin

(2012) Philip E. Stuart et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres

(2011) Dan Hasson et al.   CHROMOSOMA

A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia

(2011) Robert J. Hardwick et al.   HUMAN MUTATION

Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions

(2011) A. M. Joseph-George et al.   JOURNAL OF MEDICAL GENETICS

The Impact of Human Gene Polymorphisms on HCV Infection and Disease Outcome

(2011) Esperance Schaefer et al.   SEMINARS IN LIVER DISEASE

New cytogenetically visible copy number variant in region 8q21.2

(2011) Marina Manvelyan et al.   Molecular Cytogenetics

Complete Khoisan and Bantu genomes from southern Africa

(2010) Stephan C. Schuster et al.   NATURE

Identification of Candidate Growth Promoting Genes in Ovarian Cancer through Integrated Copy Number and Expression Analysis

(2010) Manasa Ramakrishna et al.   PLoS One

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Benign copy number changes in clinical cytogenetic diagnostics by array CGH

(2009) H. Whitby et al.   CYTOGENETIC AND GENOME RESEARCH

Lower copy numbers of the chemokine CCL3L1 gene in patients with chronic hepatitis C

(2009) Frank Grünhage et al.   JOURNAL OF HEPATOLOGY

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS

High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians

(2009) Hajime Matsuzaki et al.   GENOME BIOLOGY

Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number-Variable Region at Chromosome 4p16

(2008) Irina Balikova et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Fine-Scale and Complex Architecture of Human Copy-Number Variation

(2008) George H. Perry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of the largest tandemly repeated DNA families in the human genome

(2008) Peter E Warburton et al.   BMC GENOMICS

Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: A cytogenetic pitfall

(2008) Nadège Carelle-Calmels et al.   European Journal of Medical Genetics

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

Direct multiplexed measurement of gene expression with color-coded probe pairs

(2008) Gary K Geiss et al.   NATURE BIOTECHNOLOGY