Publication & Citation Trends
Publications
0 total
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. OA
Cited by 0
Semantic Scholar
Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.
Cited by 1
Semantic Scholar
Protocol of the Luebeck longitudinal investigation of SARS-CoV-2 infection (ELISA) study – a prospective population-based cohort study OA
Cited by 10
Semantic Scholar
One-year surveillance of SARS-CoV-2 transmission of the ELISA cohort: A model for population-based monitoring of infection risk OA
Cited by 22
Semantic Scholar
Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant OA
Cited by 0
Semantic Scholar
Cohort-based surveillance of SARS-CoV2 transmission mirrors infection rates at the population level: a one-year longitudinal study OA
Cited by 1
Semantic Scholar
ANKRD11 variants: KBG syndrome and beyond OA
Cited by 39
Semantic Scholar
Research Topics
Genomic variations and chromosomal abnormalities
(56)
Genetic Syndromes and Imprinting
(52)
Prenatal Screening and Diagnostics
(36)
Epigenetics and DNA Methylation
(30)
Genomics and Rare Diseases
(30)
Affiliations
Princess Alexandra Hospital
Karolinska Institutet
Institut für Medizinische Informatik, Biometrie und Epidemiologie
Ruhrlandklinik
Institute for Integrative and Experimental Genomics