Publication & Citation Trends
Publications
64 total
Integrative multi-omic analysis reveals conserved cell-projection deficits in human Down syndrome brains
Cited by 23
OpenAlex
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity OA
Cited by 5
Semantic Scholar
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals OA
Cited by 546
Semantic Scholar
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
Cited by 7
Semantic Scholar
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances OA
Cited by 11
Semantic Scholar
AB1105 A NOVEL AUTOINFLAMMATORY AND LYMPHOPROLIFERATIVE SYNDROME ASSOCIATED WITH PIM1 MUTATIONS OA
Cited by 0
Semantic Scholar
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences OA
Cited by 644
Semantic Scholar
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss PDF
Cited by 26
OpenAlex
Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype. OA
Cited by 17
Semantic Scholar
Research Topics
Hearing, Cochlea, Tinnitus, Genetics
(14)
Genomics and Rare Diseases
(9)
Genetics and Neurodevelopmental Disorders
(9)
Genetic Associations and Epidemiology
(7)
Immunodeficiency and Autoimmune Disorders
(6)
Affiliations
University of Copenhagen
University of Helsinki
Steno Diabetes Centers
University of Trieste
Heart of England NHS Foundation Trust