Britt-Marie Anderlid
Karolinska University Hospital(SE)Karolinska Institutet(SE)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Prenatal Screening and Diagnostics, Congenital heart defects research
Most-Cited Works
- → Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases(2017)571 cited
- → A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism(2006)470 cited
- → Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm(2012)455 cited
- → Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains(2017)179 cited
- → Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36(2014)59 cited
- → Molecular and clinical delineation of the 17q22 microdeletion phenotype(2013)44 cited
- → Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay(2017)43 cited
- → Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications(2010)36 cited
- → JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome(2020)35 cited
- → High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses(2021)33 cited