Radka Stoeva

Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter

Maria Kirchhoff, Anne‐Marie Bisgaard, Radka Stoeva et al. · American Journal of Medical Genetics Part A · 2009 · 175 citations

Gene Deletion Data, Developmental Biology, Array‐cgh Characterization +15

Three cases of two unrelated families with a microduplication 22q11.2: developmental skull defects and phenotype variability

F. Ahlfors, L Grozdanova, Radka Stoeva et al. · European Journal of Human Genetics · 2011 · 101 citations

Developmental Anomaly, Developmental Biology, Genetic Disorder +7

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerrière, Dana Jaber, Emanuela Abiusi et al. · Journal of Medical Genetics · 2021 · 62 citations · Full text

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

Corrine Smolen, Matthew Jensen, Lisa Dyer et al. · The American Journal of Human Genetics · 2023 · 39 citations · Full text

Severe Phenotype in Patients with Large Deletions of NF1

Laurence Pacot, Dominique Vidaud, Audrey Sabbagh et al. · Cancers · 2021 · 38 citations · Full text