Emma Tham

Identification of nine new susceptibility loci for endometrial cancer

Tracy A. O’Mara, Dylan M. Glubb, Frédéric Amant et al. · Nature Communications · 2018 · 326 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson et al. · Genome Medicine · 2021 · 271 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Emma Tham, Anna Lindstrand, Avni Santani et al. · The American Journal of Human Genetics · 2015 · 146 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson et al. · Genome Medicine · 2019 · 144 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels et al. · European Journal of Human Genetics · 2020 · 135 citations · Full text

Medicine, Gynecology, Oncology +15