| # | Title | Journal | Year | Citations |
|---|
| 1 | Association analysis identifies 65 new breast cancer risk loci | Nature | 2017 | 1,099 |
| 2 | Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes | American Journal of Human Genetics | 2019 | 711 |
| 3 | Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development | Cell | 2008 | 567 |
| 4 | Mutations in the Pericentrin ( PCNT ) Gene Cause Primordial Dwarfism | Science | 2008 | 370 |
| 5 | Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair | Nature Genetics | 2009 | 358 |
| 6 | Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer | Nature Genetics | 2017 | 289 |
| 7 | Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses | Nature Genetics | 2020 | 265 |
| 8 | Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome) | American Journal of Human Genetics | 2007 | 261 |
| 9 | Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype | Journal of Medical Genetics | 2009 | 194 |
| 10 | Clinical and molecular delineation of the 17q21.31 microdeletion syndrome | Journal of Medical Genetics | 2008 | 191 |
| 11 | Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma | Human Mutation | 2010 | 184 |
| 12 | Identification of nine new susceptibility loci for endometrial cancer | Nature Communications | 2018 | 178 |
| 13 | PALB2,CHEK2andATMrare variants and cancer risk: data from COGS | Journal of Medical Genetics | 2016 | 174 |
| 14 | Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes | British Journal of Cancer | 2015 | 167 |
| 15 | NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski | American Journal of Human Genetics | 2011 | 151 |
| 16 | SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome | Journal of Medical Genetics | 2007 | 114 |
| 17 | Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation | Nature Communications | 2014 | 105 |
| 18 | Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2 | International Journal of Cancer | 2017 | 99 |
| 19 | Genetic Variants of the IL-23R Pathway: Association with Psoriatic Arthritis and Psoriasis Vulgaris, but No Specific Risk Factor for Arthritis | Journal of Investigative Dermatology | 2009 | 97 |
| 20 | Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome | Clinical Genetics | 2008 | 94 |
| 21 | Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer | Nature Communications | 2016 | 93 |
| 22 | The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects | American Journal of Medical Genetics, Part A | 2009 | 92 |
| 23 | Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1 | Journal of Cell Biology | 2009 | 83 |
| 24 | Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome | European Journal of Human Genetics | 2009 | 79 |
| 25 | Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum | American Journal of Human Genetics | 2007 | 78 |
| 26 | Five endometrial cancer risk loci identified through genome-wide association analysis | Nature Genetics | 2016 | 77 |
| 27 | Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1 | American Journal of Human Genetics | 2015 | 76 |
| 28 | Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays | Journal of Medical Genetics | 2007 | 72 |
| 29 | Activation of Epithelial Signal Transducer and Activator of Transcription 1 by Interleukin 28 Controls Mucosal Healing in Mice With Colitis and Is Increased in Mucosa of Patients With Inflammatory Bowel Disease | Gastroenterology | 2017 | 72 |
| 30 | Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination | American Journal of Human Genetics | 2009 | 70 |
| 31 | Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium | Scientific Reports | 2018 | 70 |
| 32 | Ucma, a Novel Secreted Cartilage-specific Protein with Implications in Osteogenesis | Journal of Biological Chemistry | 2008 | 68 |
| 33 | Ophthalmological Aspects of Pierson Syndrome | American Journal of Ophthalmology | 2008 | 66 |
| 34 | 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 | 64 |
| 35 | Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer | Nature Communications | 2015 | 63 |
| 36 | Replication of LCE3C–LCE3B CNV as a Risk Factor for Psoriasis and Analysis of Interaction with Other Genetic Risk Factors | Journal of Investigative Dermatology | 2010 | 61 |
| 37 | α-Synuclein-induced myelination deficit defines a novel interventional target for multiple system atrophy | Acta Neuropathologica | 2016 | 58 |
| 38 | Choline transporter‐like1 (CHER1) is crucial for plasmodesmata maturation in Arabidopsis thaliana | Plant Journal | 2017 | 58 |
| 39 | Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene | American Journal of Medical Genetics, Part A | 2008 | 56 |
| 40 | MicroRNA profiles classify papillary renal cell carcinoma subtypes | British Journal of Cancer | 2013 | 56 |
| 41 | ABCB1 (MDR1) polymorphisms and ovarian cancer progression and survival: A comprehensive analysis from the Ovarian Cancer Association Consortium and The Cancer Genome Atlas | Gynecologic Oncology | 2013 | 55 |
| 42 | Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium | Human Molecular Genetics | 2014 | 53 |
| 43 | Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier | Journal of Molecular Medicine | 2009 | 52 |
| 44 | Genome-wide association study of germline variants and breast cancer-specific mortality | British Journal of Cancer | 2019 | 52 |
| 45 | Phenotypic variability in giant axonal neuropathy | Neuromuscular Disorders | 2009 | 51 |
| 46 | Genetic and Pathogenetic Aspects of Noonan Syndrome and Related Disorders | Hormone Research | 2009 | 51 |
| 47 | Association of β-Defensin Copy Number and Psoriasis in Three Cohorts of European Origin | Journal of Investigative Dermatology | 2012 | 50 |
| 48 | MicroRNA Related Polymorphisms and Breast Cancer Risk | PLoS ONE | 2014 | 49 |
| 49 | Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis | Journal of Investigative Dermatology | 2020 | 48 |
| 50 | Ucma — A novel secreted factor represents a highly specific marker for distal chondrocytes | Matrix Biology | 2008 | 46 |
