Eva‐Lena Stattin

A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans

Eva‐Lena Stattin, Fredrik Wiklund, Karin Lindblom et al. · The American Journal of Human Genetics · 2010 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Detailed analysis of <i>HTT</i> repeat elements in human blood using targeted amplification-free long-read sequencing

Ida Höijer, Yu‐Chih Tsai, Tyson A. Clark et al. · Human Mutation · 2018 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

Eva‐Lena Stattin, Petra Henning, Joakim Klar et al. · Scientific Reports · 2017 · 57 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

Maria Wilbe, Sanna Gudmundsson, Josefin Johansson et al. · Prenatal Diagnosis · 2017 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan

Eva‐Lena Stattin, Karin Lindblom, André Struglics et al. · Scientific Reports · 2022 · 18 citations · Full text

Medicine, Genetics, Molecular Genetics +17