| # | Title | Journal | Year | Citations |
|---|
| 1 | CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila | American Journal of Human Genetics | 2009 | 573 |
| 2 | Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer | Nature Genetics | 2013 | 493 |
| 3 | Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer | JAMA - Journal of the American Medical Association | 2015 | 390 |
| 4 | Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer | Nature Genetics | 2017 | 356 |
| 5 | A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population | Nature Genetics | 2010 | 309 |
| 6 | Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer | Nature Genetics | 2017 | 289 |
| 7 | The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers | Cancer Epidemiology Biomarkers and Prevention | 2017 | 278 |
| 8 | Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses | Nature Genetics | 2020 | 265 |
| 9 | Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome | Nature Reviews Drug Discovery | 2018 | 247 |
| 10 | Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk | PLoS Genetics | 2013 | 244 |
| 11 | X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes | Molecular Psychiatry | 2016 | 243 |
| 12 | Long non-coding RNA HOTAIR is an independent prognostic marker of metastasis in estrogen receptor-positive primary breast cancer | Breast Cancer Research and Treatment | 2013 | 242 |
| 13 | Mutational spectrum in a worldwide study of 29,700 families withBRCA1orBRCA2mutations | Human Mutation | 2018 | 224 |
| 14 | Identification of six new susceptibility loci for invasive epithelial ovarian cancer | Nature Genetics | 2015 | 221 |
| 15 | International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency | Journal of Allergy and Clinical Immunology | 2012 | 207 |
| 16 | Vitamin D and diabetes: Its importance for beta cell and immune function | Molecular and Cellular Endocrinology | 2011 | 166 |
| 17 | Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1 | Nature Genetics | 2011 | 147 |
| 18 | Evaluation of Nine Somatic Variant Callers for Detection of Somatic Mutations in Exome and Targeted Deep Sequencing Data | PLoS ONE | 2016 | 144 |
| 19 | Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5) | Blood | 2012 | 137 |
| 20 | Transcriptional regulator PRDM12 is essential for human pain perception | Nature Genetics | 2015 | 137 |
| 21 | Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease | American Journal of Human Genetics | 2014 | 136 |
| 22 | Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 | Nature Genetics | 2016 | 125 |
| 23 | YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction | American Journal of Human Genetics | 2017 | 125 |
| 24 | Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes | Nature Genetics | 2020 | 120 |
| 25 | Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy | Human Mutation | 2012 | 115 |
| 26 | On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations | European Journal of Human Genetics | 2011 | 107 |
| 27 | Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk | PLoS Genetics | 2013 | 105 |
| 28 | Risk‐reducing mastectomy and salpingo‐oophorectomy in unaffected BRCA mutation carriers: uptake and timing* | Clinical Genetics | 2010 | 102 |
| 29 | Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification | Human Mutation | 2019 | 102 |
| 30 | Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. | European Journal of Endocrinology | 2008 | 97 |
| 31 | Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing | Clinical Chemistry | 2014 | 95 |
| 32 | Oral clefts and life style factors — A case-cohort study based on prospective Danish data | European Journal of Epidemiology | 2007 | 94 |
| 33 | Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer | Nature Communications | 2016 | 93 |
| 34 | Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer | Nature Communications | 2019 | 90 |
| 35 | Update of variants identified in the pancreatic β‐cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes | Human Mutation | 2020 | 90 |
| 36 | Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants | Journal of Clinical Oncology | 2022 | 90 |
| 37 | Classifications within Molecular Subtypes Enables Identification of BRCA1/BRCA2 Mutation Carriers by RNA Tumor Profiling | PLoS ONE | 2013 | 89 |
| 38 | 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 | 88 |
| 39 | Shared heritability and functional enrichment across six solid cancers | Nature Communications | 2019 | 88 |
| 40 | De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias | American Journal of Human Genetics | 2018 | 87 |
| 41 | Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis | Human Mutation | 2012 | 86 |
| 42 | Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants | Genetics in Medicine | 2020 | 82 |
| 43 | Telomeres and the natural lifespan limit in humans | Aging | 2017 | 82 |
| 44 | The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome | Genetics in Medicine | 2019 | 80 |
| 45 | Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus | Nature Communications | 2016 | 78 |
| 46 | Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis | American Journal of Medical Genetics, Part A | 2013 | 76 |
| 47 | X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations | PLoS ONE | 2016 | 75 |
| 48 | DNA hypermethylation and differential gene expression associated with Klinefelter syndrome | Scientific Reports | 2018 | 75 |
| 49 | Naturally occurringBRCA2alternative mRNA splicing events in clinically relevant samples | Journal of Medical Genetics | 2016 | 69 |
| 50 | Ruxolitinib and interferon-α2 combination therapy for patients with polycythemia vera or myelofibrosis: a phase II study | Haematologica | 2020 | 67 |
