U. Jensen

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Aliases
U B Jensen, Uffe Birk Jensen, Uffe Jensen, Uffe B Jensen, Uffe B. Jensen, U. B. Jensen
Publication record
175 papers · 8,909 citations · H-index 51

PAPERS

Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes
20239 citationsauthor #10
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study.
20239 citationsauthor #11
STATE-OF-THE-ART OF GENETIC TESTING, COUNSELLING AND TRAINING IN PSYCHIATRY IN EUROPE: OPPORTUNITIES AND PITFALLS OF THE IMPLEMENTATION OF PSYCHIATRIC GENETICS IN MEDICAL PRACTICE
20220 citationsauthor #7
Novel homozygous CD46 variant with C‐isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome
20222 citationsauthor #8
Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer
20221 citationsauthor #8
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach
20226 citationsauthor #15
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.
202160 citationsauthor #89
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
20210 citationsauthor #106
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
202128 citationsauthor #80
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
202129 citationsauthor #159
Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions
20213 citationsauthor #8
A Search for Undiagnosed Charcot-Marie-Tooth Disease Among Patients Registered with Unspecified Polyneuropathy in the Danish National Patient Registry
20215 citationsauthor #4
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
202131 citationsauthor #279
The CRISPR/Cas9 Minipig—A Transgenic Minipig to Produce Specific Mutations in Designated Tissues
202112 citationsauthor #8
The role of stem cell antigen-1/Lymphocyte antigen 6A-2/6E-1 knock out in murine epidermis.
20202 citationsauthor #3
Generation of an induced pluripotent stem cell line (DANi-011A) from a Parkinson's disease patient with a LRRK2 p.G2019S mutation.
20201 citationsauthor #4
Deleterious mis‐splicing of STK11 caused by a novel single‐nucleotide substitution in the 3′ polypyrimidine tract of intron five
20203 citationsauthor #4
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
202060 citationsauthor #51
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
201917 citationsauthor #113
Exploring the hereditary background of renal cancer in Denmark
201919 citationsauthor #3
A new technique for accelerated liver regeneration. an experimental study in rats.
20190 citationsauthor #6
CRISPR-C: circularization of genes and chromosome by CRISPR in human cells
20190 citationsauthor #4
Generation of eight human induced pluripotent stem cell lines from Parkinson's disease patients carrying familial mutations.
20198 citationsauthor #4
Activation of Cellobiose Dehydrogenase Bioelectrocatalysis by Carbon Nanoparticles
20193 citationsauthor #1
Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.
201924 citationsauthor #10
Population frequencies of pathogenic alleles of BRCA1 and BRCA2: analysis of 173 Danish breast cancer pedigrees using the BOADICEA model
20197 citationsauthor #4
Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies
201852 citationsauthor #15
Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies
201852 citationsauthor #14
2-APB arrests human keratinocyte proliferation and inhibits cutaneous squamous cell carcinoma in vitro
20185 citationsauthor #5
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer
201828 citationsauthor #22
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
2018279 citationsauthor #116
Aalborg Universitet Full in-frame exon 3 skipping of BRCA 2 confers high risk of breast and / or ovarian cancer
20180 citationsauthor #23
Corrigendum to "Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex" [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391].
20180 citationsauthor #11
University of Southern Denmark Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer French COVAR group collaborators
20180 citationsauthor #23
CRISPR-C: circularization of genes and chromosome by CRISPR in human cells
201899 citationsauthor #8
Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores
2017163 citationsauthor #149
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
2017361 citationsauthor #219
University of Groningen Identification of a BRCA 2-Specific Modifier Locus at 6 p 24 Related to Breast Cancer
20170 citationsauthor #77
Charcot-Marie-Tooth disease in Denmark: a nationwide register-based study of mortality, prevalence and incidence
201717 citationsauthor #5
Mitochondrial Spare Respiratory Capacity Is Negatively Correlated with Nuclear Reprogramming Efficiency
201721 citationsauthor #6
Magnetic resonance neurography and diffusion tensor imaging of the peripheral nerves in patients with Charcot‐Marie‐Tooth Type 1A
201733 citationsauthor #5
Common variants at 12 p 11 , 12 q 24 , 9 p 21 , 9 q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers
201712 citationsauthor #174
GRIN2B Encephalopathy: Novel Findings
20171 citationsauthor #62
Gene Expression in the Liver Remnant Is Significantly Affected by the Size of Partial Hepatectomy: An Experimental Rat Study.
20175 citationsauthor #5
Isolating subpopulations of human epidermal basal cells based on polyclonal serum against trypsin‐resistant CSPG4 epitopes
20172 citationsauthor #4
Constitutive transgene expression of Stem Cell Antigen-1 in the hair follicle alters the sensitivity to tumor formation and progression.
20173 citationsauthor #7
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
2017215 citationsauthor #33
Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex.
20175 citationsauthor #11
Title Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
20170 citationsauthor #6
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
201748 citationsauthor #181
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
201758 citationsauthor #14
Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers
2017276 citationsauthor #142
A new technique for accelerated liver regeneration: An experimental study in rats
20178 citationsauthor #6
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
201611 citationsauthor #69
Dataset on gene expression profiling of multiple murine hair follicle populations
20162 citationsauthor #4
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2
2016108 citationsauthor #28
Identiﬁcation of four novel susceptibility loci for oestrogen receptor negative breast cancer
20164 citationsauthor #71
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in $\small \textit{BRCA1}$ and $\small \textit{BRCA2}$ Mutation Carriers
20161 citationsauthor #69
Syddansk Universitet Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12 p 11 locus
20161 citationsauthor #117
Global gene expression and comparison between multiple populations in the mouse epidermis.
20169 citationsauthor #4
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients
20161 citationsauthor #6
Association of breast cancer risk in BRCA 1 and BRCA 2 mutation carriers with genetic variants showing differential allelic expression
20160 citationsauthor #14
Validation of diagnostic codes for Charcot–Marie–Tooth disease in the Danish National Patient Registry
20165 citationsauthor #2
Danish retinoblastoma patients 1943–2013 – genetic testing and clinical implications
201612 citationsauthor #5
Fetal Kidney Anomalies: Next Generation Sequencing
20160 citationsauthor #13
Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation
201620 citationsauthor #4
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3
201622 citationsauthor #77
6-Year-Old Girl with Mutation in DNMT3A - A New Overgrowth Syndrome
20160 citationsauthor #3
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
201620 citationsauthor #149
Functional requirement of ac membranes of sweat glands
20160 citationsauthor #3
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients
201615 citationsauthor #6
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
2016110 citationsauthor #114
Difficulties in diagnosing Marfan syndrome using current FBN1 databases
201519 citationsauthor #5
Transcriptional regulator PRDM12 is essential for human pain perception
2015159 citationsauthor #45
Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers
201542 citationsauthor #105
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
20150 citationsauthor #174
Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception
20151 citationsauthor #45
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology.
201511 citationsauthor #14
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
201533 citationsauthor #174
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
2014122 citationsauthor #188
Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
201429 citationsauthor #186
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia | NOVA. The University of Newcastle's Digital Repository
20141 citationsauthor #140
Persistence of DNMT3A mutations at long‐term remission in adult patients with AML
2014132 citationsauthor #6
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
201464 citationsauthor #190
Charcot-Marie-Tooth disease: The development of a diagnostic platform using next generation sequencing
20140 citationsauthor #6
Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia
2014114 citationsauthor #51
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
20140 citationsauthor #190
Truncating Plakophilin-2 Mutations in Arrhythmogenic Cardiomyopathy Are Associated With Protein Haploinsufficiency in Both Myocardium and Epidermis
201446 citationsauthor #6
Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk
2013128 citationsauthor #78
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
2013413 citationsauthor #195
Mutated Desmoglein‐2 Proteins are Incorporated into Desmosomes and Exhibit Dominant‐Negative Effects in Arrhythmogenic Right Ventricular Cardiomyopathy
201337 citationsauthor #6
Monodisperse and LPS-free Aggregatibacter actinomycetemcomitans leukotoxin: interactions with human β2 integrins and erythrocytes.
201335 citationsauthor #7
Assessment of the Effect of 24-Hour Aldosterone Administration on Protein Abundance in Fluorescence-Sorted Mouse Distal Renal Tubules by Mass Spectrometry
20135 citationsauthor #4
Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.
201396 citationsauthor #10
Tetraploidy in hydatidiform moles.
201326 citationsauthor #4
Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms
201339 citationsauthor #6
Quantifying protein adsorption and function at nanostructured materials: enzymatic activity of glucose oxidase at GLAD structured electrodes.
201220 citationsauthor #1
[Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis in a two-year-old girl].
20120 citationsauthor #2
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
2012100 citationsauthor #175
Abstract 10843: Mutated Desmoglein-2 Proteins in Arrhythmogenic Right Ventricular Cardiomyopathy are Incorporated into the Desmosome and Exhibit Dominant-negative Effects
20120 citationsauthor #6

TIMELINE

1992 30 citations

1994 51 citations

1995 18 citations

1996 120 citations

1998 113 citations

2000 439 citations

2001 305 citations

2002 240 citations

2003 832 citations

2004 139 citations

2006 333 citations

2007 154 citations

2008 507 citations

2009 59 citations

2010 546 citations

2011 359 citations

2012 697 citations

2013 779 citations

2014 508 citations

2015 265 citations

2016 341 citations

2017 1,228 citations

2018 463 citations

2019 78 citations

2020 66 citations

2021 168 citations

2022 9 citations

2023 18 citations

U. Jensen

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