The 22q11 low copy repeats are characterized by unprecedented size and structural variability

Genome maps across 26 human populations reveal population-specific patterns of structural variation

(2019) Michal Levy-Sakin et al.   Nature Communications

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2

(2018) Tingwei Guo et al.   HUMAN MOLECULAR GENETICS

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

(2017) Valerie A. Schneider et al.   GENOME RESEARCH

Direct determination of diploid genome sequences

(2017) Neil I. Weisenfeld et al.   GENOME RESEARCH

The evolution and population diversity of human-specific segmental duplications

(2017) Megan Y. Dennis et al.   Nature Ecology & Evolution

Human adaptation and evolution by segmental duplication

(2016) Megan Y Dennis et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

(2016) Michael A. Eberle et al.   GENOME RESEARCH

Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis

(2016) Xingyi Guo et al.   HUMAN MOLECULAR GENETICS

Human-Chimpanzee Differences in a FZD8 Enhancer Alter Cell-Cycle Dynamics in the Developing Neocortex

(2015) J. Lomax Boyd et al.   CURRENT BIOLOGY

Assembling large genomes with single-molecule sequencing and locality-sensitive hashing

(2015) Konstantin Berlin et al.   NATURE BIOTECHNOLOGY

Large multiallelic copy number variations in humans

(2015) Robert E Handsaker et al.   NATURE GENETICS

Global diversity, population stratification, and selection of human copy-number variation

(2015) Peter H. Sudmant et al.   SCIENCE

Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion

(2015) M. Florio et al.   SCIENCE

22q11.2 deletion syndrome

(2015) Donna M. McDonald-McGinn et al.   Nature Reviews Disease Primers

Resolving the complexity of the human genome using single-molecule sequencing

(2014) Mark J. P. Chaisson et al.   NATURE

Analysis of the Human Tissue-specific Expression by Genome-wide Integration of Transcriptomics and Antibody-based Proteomics

(2013) Linn Fagerberg et al.   MOLECULAR & CELLULAR PROTEOMICS

Topology of mammalian developmental enhancers and their regulatory landscapes

(2013) Wouter de Laat et al.   NATURE

Using population admixture to help complete maps of the human genome

(2013) Giulio Genovese et al.   NATURE GENETICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

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

(2013) Joachim Weischenfeldt et al.   NATURE REVIEWS GENETICS

The UCSC Genome Browser database: 2014 update

(2013) Donna Karolchik et al.   NUCLEIC ACIDS RESEARCH

Genotype-phenotype correlation in 22q11.2 deletion syndrome

(2012) Elena Michaelovsky et al.   BMC Medical Genetics

Inhibition of SRGAP2 Function by Its Human-Specific Paralogs Induces Neoteny during Spine Maturation

(2012) Cécile Charrier et al.   CELL

Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

(2012) Megan Y. Dennis et al.   CELL

Chromosomal translocations and palindromic AT-rich repeats

(2012) Takema Kato et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Structural diversity and African origin of the 17q21.31 inversion polymorphism

(2012) Karyn Meltz Steinberg et al.   NATURE GENETICS

Characterization of the past and current duplication activities in the human 22q11.2 region

(2011) Xingyi Guo et al.   BMC GENOMICS

Establishment of Epstein-Barr Virus Growth-transformed Lymphoblastoid Cell Lines

(2011) Joyce Hui-Yuen et al.   Jove-Journal of Visualized Experiments

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

Two different forms of palindrome resolution in the human genome: deletion or translocation

(2008) T. Kato et al.   HUMAN MOLECULAR GENETICS

1000 Genomes project

(2008) Nayanah Siva   NATURE BIOTECHNOLOGY

Finishing the finished human chromosome 22 sequence

(2008) Charlotte G Cole et al.   GENOME BIOLOGY