Folkhälsan Institute of Genetics

Top Publications

Top Publications Authored or Co-Authored in "Folkhälsan Institute of Genetics"

• Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

  Nature Genetics, Volume 21, No. 3, Year 1999, Citations 254
• Inherited DOCK2 deficiency in patients with early-onset invasive infections

  New England Journal of Medicine, Volume 372, No. 25, Year 2015, Citations 156
• Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency

  Gastroenterology, Volume 147, No. 3, Year 2014, Citations 146
• Mutation spectrum in the large gtpase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

  Human Mutation, Volume 33, No. 6, Year 2012, Citations 116
• Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweight

  Nature Communications, Volume 10, No. 1, Article 1893, Year 2019, Citations 113