1.2K
Articles
42.3K
Citations
3.9
avg. Impact Factor
94
h-index

Most Cited Articles of Department of Molecular Medicine and Surgery

TitleJournalYearCitations
Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primerGenomics19921.2K
The DNA sequence of human chromosome 22Nature1999917
Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinomaNature1988875
Mitochondrial DNA and two perspectives on evolutionary geneticsBiological Journal of the Linnean Society1985739
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophyNature1992554
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's diseaseNature Genetics2017508
Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomesGenes Chromosomes and Cancer1992474
Cytomegalovirus infection drives adaptive epigenetic diversification of NK cells with altered signaling and effector functionImmunity2015454
Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomasNature Genetics1994450
Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastomaNature Genetics1997427
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancerNature Genetics2013422
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 Prevention2012411
Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancerNature Genetics1993375
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer SubtypesAmerican Journal of Human Genetics2019363
A human XY female with a frame shift mutation in the candidate testis-determining gene SRYNature1990362
The Immunology of Multisystem Inflammatory Syndrome in Children with COVID-19Cell2020347
Somatic mutations in the neurofibromatosis 1 gene in human tumorsCell1992334
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific databaseNature Genetics2014332
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysmNature Genetics2012323
Modulation of the endoplasmic reticulum-mitochondria interface in Alzheimer's disease and related modelsProceedings of the National Academy of Sciences of the United States of America2013293
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancerJAMA - Journal of the American Medical Association2015286
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathyNature Genetics2007284
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 populationNature Genetics2010276
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestationJournal of Clinical Endocrinology and Metabolism1994276
Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumorsProceedings of the National Academy of Sciences of the United States of America1990256