Citation Impact
Citing Papers
Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
2005 Standout
Widespread Parallel Evolution in Sticklebacks by Repeated Fixation of Ectodysplasin Alleles
2005 StandoutScience
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
1995 StandoutNature
Ciliary Polycystin-2 Is a Mechanosensitive Calcium Channel Involved in Nitric Oxide Signaling Cascades
2009
3 The Minute Genes in Drosophila and Their Molecular Functions
1998
Cluster of differentiation 8 and programmed cell death ligand 1 expression in triple-negative breast cancer combined with autosomal dominant polycystic kidney disease and tuberous sclerosis complex: a case report
2019
Localization of cystic fibrosis locus to human chromosome 7cen–q22
1985 Nature
Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families
1991
DNA polymorphisms amplified by arbitrary primers are useful as genetic markers
1990 Standout
Growth Hormone Treatment of Non–Growth Hormone-Deficient Growth Disorders
2007
Kidney stones: pathophysiology and medical management
2006 Standout
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
1993 Standout
Gene Duplications as a Recurrent Theme in the Evolution of the Human Pseudoautosomal Region 1: Isolation of the Gene ASMTL
1998
Rapid and quantitative DNA analysis of genetic mutations for polycystic kidney disease (PKD) using magnetic/luminescent nanoparticles
2008
Cosmid walking and chromosome jumping in the region of PKD1 reveal a locus duplication and three CpG islands
1990
The GRK4 Subfamily of G Protein-coupled Receptor Kinases
1999 StandoutNobel
Involvement of Toll-like Receptors 2 and 4 in Cellular Activation by High Mobility Group Box 1 Protein
2004
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
1995 Standout
A comprehensive genetic map of the human genome based on 5,264 microsatellites
1996 StandoutNature
Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease
1992
A primary genetic map of markers for human chromosome 10
1988
Linkage Heterogeneity of Autosomal Dominant Polycystic Kidney Disease
1988
A SECOND GENETIC LOCUS FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
1988
The Utility of DNA Typing in Forensic Work
1991 StandoutScience
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
1991 StandoutNature
Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents
2000 Nature
Biology and applications of human minisatellite loci
1992
The Diagnosis and Prognosis of Autosomal Dominant Polycystic Kidney Disease
1990
A long-range restriction map between the α-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus
1990
Aplysia CREB2 represses long-term facilitation: Relief of repression converts transient facilitation into long-term functional and structural change
1995 StandoutNobel
Mechanically Activated Ion Channels
2015 StandoutNobel
Treatable complications in undiagnosed cases of autosomal dominant polycystic kidney disease
1991
Nuclear factor-κB in cancer development and progression
2006 StandoutNature
Sulfation of N-Acetylglucosamine by Chondroitin 6-Sulfotransferase 2 (GST-5)
2000 StandoutNobel
Mechanoprotection by Polycystins against Apoptosis Is Mediated through the Opening of Stretch-Activated K2P Channels
2012
TRP channels as cellular sensors
2003 StandoutNature
A genetic linkage map of the human genome
1987
X-inactivation profile reveals extensive variability in X-linked gene expression in females
2005 StandoutNature
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
1993
Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families
1995
A mapped set of DNA markers for human chromosome 17
1988
Autosomal Dominant Polycystic Kidney Disease—More Than a Renal Disease
1990
Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family
1995
Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease
1998
Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer
1994 StandoutNature
AFLP: a new technique for DNA fingerprinting
1995 Standout
Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker
1991 StandoutNobel
Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease
1992
Genetic Alterations during Colorectal-Tumor Development
1988 Standout
A mapped set of DNA markers for human chromosome 15
1988
A CBP Integrator Complex Mediates Transcriptional Activation and AP-1 Inhibition by Nuclear Receptors
1996 Standout
Minisatellite diversity supports a recent African origin for modern humans
1996 StandoutNobel
Genes that act downstream of DAF-16 to influence the lifespan of Caenorhabditis elegans
2003 StandoutNature
Evidence for a third genetic locus for autosomal dominant polycystic kidney disease
1995
Genomic mismatch scanning: a new approach to genetic linkage mapping
1993 StandoutNobel
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
1990 StandoutNature
High-Resolution Mapping of Human Chromosome 11 by in Situ Hybridization with Cosmid Clones
1990 Science
Multilocus polycystic disease
1992
DNA Diagnostics—Molecular Techniques and Automation
1988 Science
Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping
1989 StandoutScience
Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.
1996 StandoutNobel
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.
1996
Saturating the region of the polycystic kidney disease gene with NotI linking clones.
1991
A first-generation X-inactivation profile of the human X chromosome
1999
Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1).
1990
Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13–q23
1993
Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations
1992
A study of genetic linkage heterogeneity in adult polycystic kidney disease
1987
Genetic and Fossil Evidence for the Origin of Modern Humans
1988 StandoutScience
Strategies for studying heterogeneous genetic traits in humans by using a linkage map of restriction fragment length polymorphisms.
1986
Functional Coherence of the Human Y Chromosome
1997 StandoutScience
PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
1996 StandoutScience
Assignment of a polymorphic locus of OS-4(D18S5) DNA segment to human chromosome region 18q21.3→qter
1987
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.
1989 Standout
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
1993
Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene
2001
Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus.
1986
PRENATAL DIAGNOSIS OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE WITH A DNA PROBE
1986
Piezo1, a mechanically activated ion channel, is required for vascular development in mice
2014 StandoutNobel
Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16.
1990
Polycystins and partners: proposed role in mechanosensitivity
2014
Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.
1990
Identification of the Cystic Fibrosis Gene: Genetic Analysis
1989 StandoutScience
The human aquaporin-CHIP gene. Structure, organization, and chromosomal localization
1993 StandoutNobel
Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21
1990 StandoutScience
Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2.
1995
Genetic Dissection of Complex Traits
1994 StandoutScience
Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients
1990 StandoutScience
Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
1989 StandoutScience
Variable Number of Tandem Repeat (VNTR) Markers for Human Gene Mapping
1987 Science
Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III
1997 StandoutNobel
Reverse genetics and human disease
1986
Lanthanide-Based Luminescent Hybrid Materials
2009 Standout
Sudestada1, a Drosophila ribosomal prolyl-hydroxylase required for mRNA translation, cell homeostasis, and organ growth
2014 StandoutNobel
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
1994
Mutation detection with MutH, MutL, and MutS mismatch repair proteins.
1996 StandoutNobel
CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel.
1991
Genetic linkage map of human chromosome 7 with 63 DNA markers.
1987
Protein Glycoengineering Enabled by the Versatile Synthesis of Aminooxy Glycans and the Genetically Encoded Aldehyde Tag
2011 StandoutNobel
Tumors in Rubinstein‐Taybi syndrome
1995
Mapping Complex Genetic Traits in Humans: New Methods Using a Complete RFLP Linkage Map
1986
Protein structure prediction for the male-specific region of the human Y chromosome
2004 StandoutNobel
Construction of a General Human Chromosome Jumping Library, with Application to Cystic Fibrosis
1987 Science
A DNA insulator prevents repression of a targeted X-linked transgene but not its random or imprinted X inactivation
2006 StandoutNobel
Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene.
1988
Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17
1987 Science
Atezolizumab and Nab-Paclitaxel in Advanced Triple-Negative Breast Cancer
2018 Standout
Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA Marker
1985 Science
Works of M.H. Breuning being referenced
Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16.
1986
Probe, VK5B, is located in the same interval as the autosomal dominant adult polycystic kidney disease locus, PKD1
1990
Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice
2007
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
1997
A TaqI polymorphism identified by 26–6 (D16S125) proximal to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16
1990
A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)
1997
Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein‐Taybi syndrome
1994
Location of mutations within the PKD2 gene influences clinical outcome
2000
Analysis of a large family with the second type of autosomal dominant polycystic kidney disease
1996
Characterization of new probes for diagnosis of polycystic kidney disease (PKD1).
1989
Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.
1993
Inversion 16 and translocation (16;16) in ANLL M4eo break in the same subregion of the short arm of chromosome 16
1991
[From gene to disease; SLC3A1, SLC7A9 and cystinuria].
2003
Adult, fetal, and polycystic kidney expression of polycystin, the polycystic kidney disease-1 gene product.
1996
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16
1985 Nature
Two Genetic Markers Closely Linked to Adult Polycystic Kidney Disease on Chromosome 16
1986