| Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 | Nature Genetics | 2016 | 93 |
| Osteoporosis and Bone Mass Disorders: From Gene Pathways to Treatments | Trends in Endocrinology and Metabolism | 2016 | 86 |
| Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement | American Journal of Human Genetics | 2016 | 70 |
| Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer | Nature Communications | 2016 | 64 |
| Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 | Breast Cancer Research | 2016 | 58 |
| De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations | American Journal of Human Genetics | 2016 | 55 |
| Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus | Nature Communications | 2016 | 53 |
| Epidemiology of Massive Transfusion: A Binational Study From Sweden and Denmark | Critical Care Medicine | 2016 | 51 |
| Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer | Cancer Epidemiology Biomarkers and Prevention | 2016 | 42 |
| Mutations in HECW2 are associated with intellectual disability and epilepsy | Journal of Medical Genetics | 2016 | 39 |
| Epigenetic Regulation of Adaptive NK Cell Diversification | Trends in Immunology | 2016 | 39 |
| Functional Analysis of a Novel Genome-Wide Association Study Signal in SMAD3 That Confers Protection From Coronary Artery Disease | Arteriosclerosis, Thrombosis, and Vascular Biology | 2016 | 38 |
| Recent Advances in Defining the Genetic Basis of Rheumatoid Arthritis | Annual Review of Genomics and Human Genetics | 2016 | 36 |
| Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults | Journal of Bone and Mineral Research | 2016 | 36 |
| TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons | Nature Genetics | 2016 | 36 |
| Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum | Journal of Bone and Mineral Research | 2016 | 32 |
| Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis | Orphanet Journal of Rare Diseases | 2016 | 29 |
| Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation | Journal of Clinical Immunology | 2016 | 29 |
| Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability | American Journal of Human Genetics | 2016 | 26 |
| Expanding the ataxia with oculomotor apraxia type 4 phenotype | Neurology: Genetics | 2016 | 26 |
| Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population | Oncology Reports | 2016 | 25 |
| Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate | Bone | 2016 | 23 |
| Obese young adults exhibit lower total and lower free serum 25-hydroxycholecalciferol in a randomized vitamin D intervention | Clinical Endocrinology | 2016 | 22 |
| An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers | Breast Cancer Research and Treatment | 2016 | 22 |
| Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations | PLoS ONE | 2016 | 21 |
