Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer | Genomics | 1992 | 1.2K |
The DNA sequence of human chromosome 22 | Nature | 1999 | 917 |
Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma | Nature | 1988 | 875 |
Mitochondrial DNA and two perspectives on evolutionary genetics | Biological Journal of the Linnean Society | 1985 | 739 |
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy | Nature | 1992 | 554 |
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease | Nature Genetics | 2017 | 508 |
Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes | Genes Chromosomes and Cancer | 1992 | 474 |
Cytomegalovirus infection drives adaptive epigenetic diversification of NK cells with altered signaling and effector function | Immunity | 2015 | 454 |
Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas | Nature Genetics | 1994 | 450 |
Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma | Nature Genetics | 1997 | 427 |
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer | Nature Genetics | 2013 | 422 |
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) | Cancer Epidemiology Biomarkers and Prevention | 2012 | 411 |
Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer | Nature Genetics | 1993 | 375 |
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes | American Journal of Human Genetics | 2019 | 363 |
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY | Nature | 1990 | 362 |
The Immunology of Multisystem Inflammatory Syndrome in Children with COVID-19 | Cell | 2020 | 347 |
Somatic mutations in the neurofibromatosis 1 gene in human tumors | Cell | 1992 | 334 |
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database | Nature Genetics | 2014 | 332 |
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm | Nature Genetics | 2012 | 323 |
Modulation of the endoplasmic reticulum-mitochondria interface in Alzheimer's disease and related models | Proceedings of the National Academy of Sciences of the United States of America | 2013 | 293 |
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer | JAMA - Journal of the American Medical Association | 2015 | 286 |
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy | Nature Genetics | 2007 | 284 |
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 | 276 |
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation | Journal of Clinical Endocrinology and Metabolism | 1994 | 276 |
Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors | Proceedings of the National Academy of Sciences of the United States of America | 1990 | 256 |