Publication & Citation Trends
Most Cited Works
Publications
23 total
Evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogaster PDF
Cited by 12
OpenAlex
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions PDF
Cited by 393
OpenAlex
Paragraph: a graph-based structural variant genotyper for short-read sequence data PDF
Cited by 210
OpenAlex
ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions PDF
Cited by 46
OpenAlex
Paragraph: A graph-based structural variant genotyper for short-read sequence data PDF
Cited by 33
OpenAlex
Developmental validation of the MiSeq FGx Forensic Genomics System for Targeted Next Generation Sequencing in Forensic DNA Casework and Database Laboratories PDF
Cited by 318
OpenAlex
Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications PDF
Cited by 2,400
OpenAlex
Research Topics
Genomics and Phylogenetic Studies
(8)
RNA and protein synthesis mechanisms
(6)
Genomics and Chromatin Dynamics
(4)
Cancer Genomics and Diagnostics
(4)
RNA modifications and cancer
(4)
Frequent Co-Authors
Affiliations
Universitat Pompeu Fabra
Illumina (United States)
Cold Spring Harbor Laboratory
BD Biosciences (United States)
Pacific Biosciences (United States)