Carina Wallgren‐Pettersson

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

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 · 420 citations

Chromatin, Mendelian Disorder, Genetic Disorder +7

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

Kristen L. Nowak, Duangrurdee Wattanasirichaigoon, Hans H. Goebel et al. · Nature Genetics · 1999 · 398 citations

Muscle Physiology, Muscle Function, Health Sciences +11

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Katarina Pelin, Pirta Hilpelä, Kati Donner et al. · Proceedings of the National Academy of Sciences · 1999 · 328 citations · Full text

Mutations and polymorphisms of the skeletal muscle α-actin gene (<i>ACTA1</i>)

Nigel G. Laing, Danielle E. Dye, Carina Wallgren‐Pettersson et al. · Human Mutation · 2009 · 238 citations · Full text

Muscle Function, Genetics, Adult Skeletal Muscle +18