Publication & Citation Trends
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
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
Transcriptome Analysis of Post-Mortem Brain Tissue Reveals Up-Regulation of the Complement Cascade in a Subgroup of Schizophrenia Patients OA
Cited by 21
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)
Affiliations
Uppsala University
J. Craig Venter Institute
National Food Administration
St. Jude Children's Research Hospital
Uppsala University Hospital