Dagmar Tapon

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt et al. · The Lancet · 2019 · 694 citations · Full text

Survey of Somatic Mutations in Tuberous Sclerosis Complex (TSC) Hamartomas Suggests Different Genetic Mechanisms for Pathogenesis of TSC Lesions

Yo Niida, Anat Stemmer‐Rachamimov, Marian L. Logrip et al. · The American Journal of Human Genetics · 2001 · 201 citations · Full text

Tuberous Sclerosis Complex, Developmental Anomaly, Somatic Variant +10

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

Natalie Chandler, Sunayna Best, Jane Hayward et al. · Genetics in Medicine · 2018 · 160 citations · Full text

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Lord J, McMullan DJ, Eberhardt RY et al. · Yearbook of pediatric endocrinology · 2019 · 155 citations

Genetics, Genetic Epidemiology, Diagnosis +22

The male phenotype in osteopathia striata congenita with cranial sclerosis

Sarah K. Holman, Phil Daniel, Zandra A. Jenkins et al. · American Journal of Medical Genetics Part A · 2011 · 34 citations