Publication & Citation Trends
Publications
0 total
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing OA
Cited by 5
Semantic Scholar
O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes* OA
Cited by 0
Semantic Scholar
Multi-modal investigation of the schizophrenia-associated 3q29 genomic interval reveals global genetic diversity with unique haplotypes and segments that increase the risk for non-allelic homologous recombination NAHR OA
Cited by 2
Semantic Scholar
Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation. OA
Cited by 15
Semantic Scholar
Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait.
Cited by 32
Semantic Scholar
Genome mapping resolves structural variation within segmental duplications associated with microdeletion/microduplication syndromes OA
Cited by 1
Semantic Scholar
Genome maps across 26 human populations reveal population-specific patterns of structural variation OA
Cited by 141
Semantic Scholar
A high-resolution, chromosome-assigned Komodo dragon genome reveals adaptations in the cardiovascular, muscular, and chemosensory systems of monitor lizards OA
Cited by 6
Semantic Scholar
Research Topics
Genomic variations and chromosomal abnormalities
(13)
Chromosomal and Genetic Variations
(9)
Congenital heart defects research
(7)
Genomics and Rare Diseases
(5)
Genomics and Chromatin Dynamics
(4)
Affiliations
Broad Institute
Harvard University
University of California, San Francisco
Massachusetts General Hospital
Institute of Molecular and Cell Biology