| # | Title | Journal | Year | Citations |
|---|
| 1 | An atlas of active enhancers across human cell types and tissues | Nature | 2014 | 2,269 |
| 2 | Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers | JAMA - Journal of the American Medical Association | 2017 | 1,898 |
| 3 | Association analysis identifies 65 new breast cancer risk loci | Nature | 2017 | 1,099 |
| 4 | Large-scale genotyping identifies 41 new loci associated with breast cancer risk | Nature Genetics | 2013 | 960 |
| 5 | RNA-Seq of Tumor-Educated Platelets Enables Blood-Based Pan-Cancer, Multiclass, and Molecular Pathway Cancer Diagnostics | Cancer Cell | 2015 | 700 |
| 6 | Somatic retrotransposition alters the genetic landscape of the human brain | Nature | 2011 | 621 |
| 7 | Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways | Nature Genetics | 2019 | 593 |
| 8 | Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways | Nature Genetics | 2018 | 564 |
| 9 | Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance | Gastroenterology | 2004 | 536 |
| 10 | Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment | American Journal of Medical Genetics, Part A | 2014 | 524 |
| 11 | Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer | Nature Genetics | 2015 | 513 |
| 12 | Guidelines for diagnostic next-generation sequencing | European Journal of Human Genetics | 2016 | 389 |
| 13 | Genome-wide association studies identify four ER negative–specific breast cancer risk loci | Nature Genetics | 2013 | 374 |
| 14 | Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion | Nature Genetics | 2005 | 334 |
| 15 | Whole-genome sequencing in health care | European Journal of Human Genetics | 2013 | 330 |
| 16 | Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia | American Journal of Human Genetics | 2013 | 272 |
| 17 | X-linked inheritance of Fanconi anemia complementation group B | Nature Genetics | 2004 | 271 |
| 18 | Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans | Nature Genetics | 2009 | 269 |
| 19 | Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening | European Journal of Human Genetics | 2015 | 260 |
| 20 | Genome-wide association analysis identifies three new breast cancer susceptibility loci | Nature Genetics | 2012 | 256 |
| 21 | TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes | Journal of Medical Genetics | 2010 | 254 |
| 22 | The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies | Nature Genetics | 2017 | 251 |
| 23 | Responsible implementation of expanded carrier screening | European Journal of Human Genetics | 2016 | 240 |
| 24 | Swarm Intelligence-Enhanced Detection of Non-Small-Cell Lung Cancer Using Tumor-Educated Platelets | Cancer Cell | 2017 | 235 |
| 25 | Quantifying exosome secretion from single cells reveals a modulatory role for GPCR signaling | Journal of Cell Biology | 2018 | 227 |
| 26 | Mutational spectrum in a worldwide study of 29,700 families withBRCA1orBRCA2mutations | Human Mutation | 2018 | 224 |
| 27 | FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration | Acta Neuropathologica | 2010 | 222 |
| 28 | Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome | Journal of Medical Genetics | 2012 | 221 |
| 29 | Neurofilament light chain: a biomarker for genetic frontotemporal dementia | Annals of Clinical and Translational Neurology | 2016 | 207 |
| 30 | A Histone-Fold Complex and FANCM Form a Conserved DNA-Remodeling Complex to Maintain Genome Stability | Molecular Cell | 2010 | 204 |
| 31 | Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia | Lancet Neurology, The | 2008 | 203 |
| 32 | Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan | Nature Genetics | 2012 | 191 |
| 33 | A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer | Nature Genetics | 2018 | 184 |
| 34 | ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 | Nature Genetics | 2013 | 183 |
| 35 | Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1 | American Journal of Human Genetics | 2010 | 178 |
| 36 | Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia | American Journal of Human Genetics | 2013 | 176 |
| 37 | The genetic and molecular basis of Fanconi anemia | Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis | 2009 | 174 |
| 38 | PLS3 Mutations in X-Linked Osteoporosis with Fractures | New England Journal of Medicine | 2013 | 171 |
| 39 | Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis | Annals of Neurology | 2011 | 168 |
| 40 | A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11 | Human Molecular Genetics | 2012 | 168 |
| 41 | Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia | American Journal of Human Genetics | 2013 | 167 |
| 42 | The DNA Translocase FANCM/MHF Promotes Replication Traverse of DNA Interstrand Crosslinks | Molecular Cell | 2013 | 165 |
| 43 | Osteogenesis Imperfecta: A Review with Clinical Examples | Molecular Syndromology | 2011 | 159 |
| 44 | Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity | American Journal of Human Genetics | 2013 | 151 |
| 45 | Functional Ex Vivo Assay to Select Homologous Recombination–Deficient Breast Tumors for PARP Inhibitor Treatment | Clinical Cancer Research | 2014 | 144 |
| 46 | Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families | British Journal of Cancer | 2011 | 142 |
| 47 | Germ-line and somatic DICER1 mutations in pineoblastoma | Acta Neuropathologica | 2014 | 137 |
| 48 | Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis | Genome Research | 2014 | 136 |
| 49 | Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects | American Journal of Human Genetics | 2017 | 136 |
| 50 | Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus | American Journal of Human Genetics | 2013 | 135 |
