Area of research
Genetics · Plant Science
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Genomics and Rare Diseases, and Genomics and Phylogenetic Studies.
A draft human pangenome reference
Pangenome graph construction from genome alignments with Minigraph-Cactus
Recombination between heterologous human acrocentric chromosomes
Increased mutation and gene conversion within human segmental duplications
Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome
The structure, function and evolution of a complete human chromosome 8
A high-quality bonobo genome refines the analysis of hominid evolution
Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans
Alpha Satellite Insertion Close to an Ancestral Centromeric Region
An evolutionary driver of interspersed segmental duplications in primates
An evolutionary driver of interspersed segmental duplications in primates
Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes
High-resolution comparative analysis of great ape genomes
The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes
Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H ( <i>CFH</i> ) gene family
Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution
The evolution and population diversity of human-specific segmental duplications
The birth of a human-specific neural gene by incomplete duplication and gene fusion
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Long-read sequence assembly of the gorilla genome
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility
Excess of rare, inherited truncating mutations in autism
Global diversity, population stratification, and selection of human copy-number variation
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
Extreme selective sweeps independently targeted the X chromosomes of the great apes
Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development