Standout Papers
Citation Impact
Citing Papers
Calorie Restriction Promotes Mammalian Cell Survival by Inducing the SIRT1 Deacetylase
2004 StandoutScience
Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion
2015 StandoutScienceNobel
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
1995 StandoutNature
BRD4-NUT fusion oncogene: a novel mechanism in aggressive carcinoma.
2003
Blood pressure and haemoglobin A1c are associated with microhaemorrhage in CADASIL: a two-centre cohort study
2006
Finishing the euchromatic sequence of the human genome
2004 StandoutNature
Pattern of nucleotide substitution at major histocompatibility complex class I loci reveals overdominant selection
1988 StandoutNature
AML1, the Target of Multiple Chromosomal Translocations in Human Leukemia, Is Essential for Normal Fetal Liver Hematopoiesis
1996 Standout
Base-excision repair of oxidative DNA damage
2007 StandoutNature
Activation of p53 Sequence-Specific DNA Binding by Acetylation of the p53 C-Terminal Domain
1997 Standout
Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families
1991
Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
2011
The Tuberous Sclerosis Complex
2006 Standout
Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease
1999
Targeted Disruption of Results in a Complete Lack of Bone Formation owing to Maturational Arrest of Osteoblasts
1997 Standout
Cerebral microbleeds: a guide to detection and interpretation
2009 Standout
Rationale and Design of the TEMPO (Tolvaptan Efficacy and Safety in Management of Autosomal Dominant Polycystic Kidney Disease and Its Outcomes) 3-4 Study
2011
RNAi screen identifies Brd4 as a therapeutic target in acute myeloid leukaemia
2011 StandoutNature
Neurexins Physically and Functionally Interact with GABAA Receptors
2010 StandoutNobel
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
1994 StandoutNature
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease
1992
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
1993
A genome-wide comparison of recent chimpanzee and human segmental duplications
2005 StandoutNatureNobel
Molecular basis of human hypertension: Role of angiotensinogen
1992 Standout
Mismatch repair and nucleotide excision repair proteins cooperate in the recognition of DNA interstrand crosslinks
2009 StandoutNobel
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
Linkage Heterogeneity of Autosomal Dominant Polycystic Kidney Disease
1988
Cancer Epigenetics: From Mechanism to Therapy
2012 Standout
A SECOND GENETIC LOCUS FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
1988
Asymptomatic microbleeds in moyamoya disease: T2*-weighted gradient-echo magnetic resonance imaging study
2005
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
1991 StandoutNature
Cerebral Microbleeds: Clinical and Pathophysiological Significance
2007
International Union of Basic and Clinical Pharmacology. LXXVI. Current Progress in the Mammalian TRP Ion Channel Family
2010
The Diagnosis and Prognosis of Autosomal Dominant Polycystic Kidney Disease
1990
Aplysia CREB2 represses long-term facilitation: Relief of repression converts transient facilitation into long-term functional and structural change
1995 StandoutNobel
Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene
1997
Autism-Associated Neuroligin-3 Mutations Commonly Disrupt Tonic Endocannabinoid Signaling
2013 StandoutNobel
TRP channels as cellular sensors
2003 StandoutNature
A genetic linkage map of the human genome
1987
Demographic history and linkage disequilibrium in human populations
1997 StandoutNobel
Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families
1995
DNA triple helices: Biological consequences and therapeutic potential
2008
Identification of PKDL, a Novel Polycystic Kidney Disease 2-Like Gene Whose Murine Homologue Is Deleted in Mice with Kidney and Retinal Defects
1998
Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1
1994
Hereditary Colorectal Cancer
2003 Standout
Spontaneous brain microbleeds: systematic review, subgroup analyses and standards for study design and reporting
2007
Autosomal Dominant Polycystic Kidney Disease—More Than a Renal Disease
1990
Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution
1996
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
2010
The Application of Molecular Genetics to the Study of Familial Arterial Hypertension
1989
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
1995
The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB–binding protein
1996
Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family
1995
A method for constructing radiation hybrid maps of whole genomes
1994
Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours
1992 StandoutNature
Batten's disease: Clues to neuronal protein catabolism in lysosomes
2000
Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease
2012 Standout
A CBP Integrator Complex Mediates Transcriptional Activation and AP-1 Inhibition by Nuclear Receptors
1996 Standout
The Transcriptional Coactivators p300 and CBP Are Histone Acetyltransferases
1996 Standout
A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export
2009 StandoutNobel
A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function
1997 StandoutNature
Evidence for a third genetic locus for autosomal dominant polycystic kidney disease
1995
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
1990 StandoutNature
p300/CBP and cancer
2004
Impact of MRI markers in subcortical vascular dementia: A multi-modal analysis in CADASIL
2008
Genome Duplications and Other Features in 12 Mb of DNA Sequence from Human Chromosome 16p and 16q
1999
The scaffold protein Nde1 safeguards the brain genome during S phase of early neural progenitor differentiation
2014
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
Cerebral Microhemorrhage
2006
Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population.
1996 StandoutNobel
Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13–q23
1993
Acetylation of the C Terminus of Ku70 by CBP and PCAF Controls Bax-Mediated Apoptosis
2004
Lysosomal cathepsin D mediates endogenous mucin glycodomain catabolism in mammals
2022 StandoutNobel
Cell Cycle Control and Cancer
1994 StandoutScienceNobel
Genomics and human disease—variations on variation
1998 StandoutNobel
PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
1996 StandoutScience
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.
1989 Standout
Concerted Nonsyntenic Allelic Loss in Human Colorectal Carcinoma
1988 Science
Cerebral microbleeds on MRI
2006
MT-III, a brain-specific member of the metallothionein gene family.
1992
Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function
2011 StandoutNobel
Complete sequence of HLA-B27 cDNA identified through the characterization of structural markers unique to the HLA-A, -B, and -C allelic series.
1986
Silent Cerebral Microbleeds on T2*-Weighted MRI
2002
Interaction of the co-activator CBP with Myb proteins: effects on Myb-specific transactivation and on the cooperativity with NF-M.
1996
Microbleeds Versus Macrobleeds
2009
Fluorescent Sensors for Zn2+Based on a Fluorescein Platform: Synthesis, Properties and Intracellular Distribution
2001 StandoutNobel
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
Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.
1990
Fusion Between Transcription Factor CBFβ/PEBP2β and a Myosin Heavy Chain in Acute Myeloid Leukemia
1993 Science
Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III
1997 StandoutNobel
Genetic Restriction of HIV-1 Infection and Progression to AIDS by a Deletion Allele of the CKR5 Structural Gene
1996 StandoutScience
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
2012 StandoutNobel
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
1994
The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.
1996
Emerging Targets in Photopharmacology
2016 StandoutNobel
Molecular pathogenesis of the chromosome 16 inversion in the M4Eo subtype of acute myeloid leukemia [see comments]
1995
Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review.
2006
Autophagy as a Regulated Pathway of Cellular Degradation
2000 StandoutScience
Chromosome 17 Deletions and p53 Gene Mutations in Colorectal Carcinomas
1989 StandoutScience
Cerebral Microbleeds: Old Leaks and New Haemorrhages
2006
Heterogeneity in CBF beta/MYH11 fusion messages encoded by the inv(16)(p13q22) and the t(16;16)(p13;q22) in acute myelogenous leukemia
1995
Works of M.H. Breuning being referenced
Probe 218EP6 (D16S246) detects RFLP's close to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16
1990
Cross-Species Homology of the CLN3 Gene
1997
IMPROVED EARLY DIAGNOSIS OF ADULT POLYCYSTIC KIDNEY DISEASE WITH FLANKING DNA MARKERS
1987
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
2008
Mapping the short arm of human chromosome 16
1989
Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2
1996
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
1993
Diagnostic Approach and Management of Lynch Syndrome (Hereditary Nonpolyposis Colorectal Carcinoma): A Guide for Clinicians
2006
Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker
1991 StandoutNobel
A Murine Model for Juvenile NCL: Gene Targeting of MouseCln3
1999
Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16)
1997
Two distinct loci on the short arm of chromosome 16 are involved in myeloid leukemia
1991
Cerebral microbleeds in CADASIL
2001
An anonymous single copy chromosome 22 clone, D22S10 (22c1-18) identifies an RFLP with PstI
1985
Subtypes of HLA-B27 detected by cytotoxic T lymphocytes and their role in self-recognition
1982
Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1).
1990
Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy
2009
Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations
1992
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
1993
Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.
1995
Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.
1990
A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4Eo
1993
Construction of a map of chromosome 16 by using radiation hybrids.
1992