Ellika Sahlin
Karolinska University Hospital(SE)Karolinska Institutet(SE)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders, Genetic factors in colorectal cancer
Most-Cited Works
- → Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients(2021)258 cited
- → From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability(2019)141 cited
- → Fetal HLA-G mediated immune tolerance and interferon response in preeclampsia(2020)48 cited
- → Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women(2016)38 cited
- → Intragenic duplication—A novel causative mechanism for SATB2‐associated syndrome(2014)38 cited
- → Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth(2019)36 cited
- → Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability(2022)33 cited
- → Amplification-free sequencing of cell-free DNA for prenatal non-invasive diagnosis of chromosomal aberrations(2014)31 cited
- → Molecular and Cytogenetic Analysis in Stillbirth: Results from 481 Consecutive Cases(2014)28 cited
- → Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association(2014)23 cited