Publication & Citation Trends
Most Cited Works
Publications
171 total
PB1709: A COMPLETE DIGITAL KARYOTYPE OF THE B-CELL LEUKEMIA REH CELL LINE RESOLVED BY LONG-READ SEQUENCING OA
Cited by 0
Semantic Scholar
A complete digital karyotype of the B-cell leukemia REH cell line resolved by long-read sequencing OA
Cited by 1
Semantic Scholar
CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations PDF
Cited by 178
OpenAlex
Correction: Copy number of pancreatic polypeptide receptor gene NPY4R correlates with body mass index and waist circumference OA
Cited by 0
Semantic Scholar
Multi-Omic Investigations of a 17–19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis OA
Cited by 9
Semantic Scholar
DLG4-related synaptopathy: a new rare brain disorder OA
Cited by 44
Semantic Scholar
Long-read whole-genome analysis of human single cells OA
Cited by 44
Semantic Scholar
Interpretable Machine Learning Reveals Dissimilarities Between Subtypes of Autism Spectrum Disorder OA
Cited by 9
Semantic Scholar
Research Topics
Genomic variations and chromosomal abnormalities
(52)
Genomics and Rare Diseases
(33)
Genomics and Phylogenetic Studies
(21)
Chromosomal and Genetic Variations
(19)
Genetics and Neurodevelopmental Disorders
(17)
Frequent Co-Authors
Affiliations
Uppsala University
J. Craig Venter Institute
National Food Administration
St. Jude Children's Research Hospital
Uppsala University Hospital