Erik Iwarsson

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

Anne-Sophie Nicot, Anne Toussaint, Valérie Tosch et al. · Nature Genetics · 2007 · 433 citations

Life Sciences, Genetics, Molecular Genetics +12

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

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

On the origin of trisomy 21 Down syndrome

Maj Hultén, Suketu D Patel, Maira Tankimanova et al. · Molecular Cytogenetics · 2008 · 139 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A high degree of aneuploidy in frozen-thawed human preimplantation embryos

Erik Iwarsson, Monalill Lundqvist, José Inzunza et al. · Human Genetics · 1999 · 129 citations

Veterinary Medicine, Genetics, Molecular Genetics +14