Citation Impact
Citing Papers
Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
2005 Standout
Generation of Pluripotent Stem Cells from Adult Mouse Liver and Stomach Cells
2008 StandoutScienceNobel
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
2003 Standout
A comprehensive map of human glucokinase variant activity
2023
Human Ageing and Telomeres
2007
Hallmarks of Cancer: The Next Generation
2011 Standout
Normal development and behaviour of mice lacking the neuronal cell-surface PrP protein
1992 StandoutNatureNobel
From molecular to modular cell biology
1999 StandoutNatureNobel
Essential role of mouse telomerase in highly proliferative organs
1998 StandoutNatureNobel
Mechanisms and Molecules that Control Growth Cone Guidance
1996
Dual Roles for Glucokinase in Glucose Homeostasis as Determined by Liver and Pancreatic β Cell-specific Gene Knock-outs Using Cre Recombinase
1999
The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component
1996
Clonally Derived Human Embryonic Stem Cell Lines Maintain Pluripotency and Proliferative Potential for Prolonged Periods of Culture
2000
Development of a Novel Polygenic Model of NIDDM in Mice Heterozygous for IR and IRS-1 Null Alleles
1997
Identification and characterization of a spinal muscular atrophy-determining gene
1995 Standout
hEST2, the Putative Human Telomerase Catalytic Subunit Gene, Is Up-Regulated in Tumor Cells and during Immortalization
1997 Standout
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
1994 StandoutNature
Isolating vector-insert junctions from yeast artificial chromosomes.
1993
Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors
2007 StandoutNobel
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
1995 Standout
Molecular basis of human hypertension: Role of angiotensinogen
1992 Standout
A comprehensive genetic map of the human genome based on 5,264 microsatellites
1996 StandoutNature
Telomere states and cell fates
2000 StandoutNatureNobel
The GPR54 Gene as a Regulator of Puberty
2003 Standout
A genome-wide search for human type 1 diabetes susceptibility genes
1994 Nature
The FHIT Gene, Spanning the Chromosome 3p14.2 Fragile Site and Renal Carcinoma–Associated t(3;8) Breakpoint, Is Abnormal in Digestive Tract Cancers
1996 Standout
Synaptic transmission: A bidirectional and self-modifiable form of cell-cell communication
1993 StandoutNobel
The 1993–94 Généthon human genetic linkage map
1994 Standout
Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease
1994
Telomere Length and Telomerase Expression in Atypical Adenomatous Hyperplasia and Small Bronchioloalveolar Carcinoma of the Lung
2007
Prevalence, Phenotypic Spectrum, and Modes of Inheritance of Gonadotropin-Releasing Hormone Receptor Mutations in Idiopathic Hypogonadotropic Hypogonadism1
2001
Correlating telomerase activity levels with human neuroblastoma outcomes
1995
Runaway telomere elongation caused by telomerase RNA gene mutations
1995 StandoutNatureNobel
The C. elegans genome sequencing project: a beginning
1992 StandoutNatureNobel
Genome-wide RNAi analysis of Caenorhabditis elegans fat regulatory genes
2003 StandoutNatureNobel
A 13 kb resolution cosmid map of the 14 Mb fission yeast genome by nonrandom sequence-tagged site mapping
1993
Monogenic Disorders of Puberty
2002
Genetic Causes of Human Reproductive Disease
2002
Regulation of Telomere Length and Telomerase in T and B Cells
1998
Sex, nose and genotype
1992
Longevity, Stress Response, and Cancer in Aging Telomerase-Deficient Mice
1999 StandoutNobel
The biology of replicative senescence
1997
The CEPH Consortium Linkage Map of Human Chromosome 13
1993
Molecular cloning and analysis of the fragile X region in man
1991
Medical and Societal Consequences of the Human Genome Project
1999
A point mutation in the FMR-1 gene associated with fragile X mental retardation
1993
Seven-transmembrane-spanning receptors and heart function
2002 StandoutNatureNobel
Chemistry of Class 1 CRISPR-Cas effectors: Binding, editing, and regulation
2020 StandoutNobel
HLA-DQβ gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus
1987 StandoutNature
The active conformation of human glucokinase is not altered by allosteric activators
2011
Human telomerase contains evolutionarily conserved catalytic and structural subunits
1997
Contact and adhesive specificities in the associations, migrations, and targeting of cells and axons
1992
Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1)
1996 Nature
Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X–linked hydrocephalus
1992
Absence of expression of the FMR-1 gene in fragile X syndrome
1991
Cut2 proteolysis required for sister-chromatid separation in fission yeast
1996 StandoutNatureNobel
Human Endothelial Cell Life Extension by Telomerase Expression
1999
Cloning of the α–adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification
1992
Gapped BLAST and PSI-BLAST: a new generation of protein database search programs
1997 Standout
Genomic structure of the human prion protein gene.
1991
The mouse and human genes encoding the recognition component of the N-end rule pathway
1998 StandoutNobel
Positional cloning of the hereditary renal carcinoma 3;8 chromosome translocation breakpoint.
1993
Rat L (long interspersed repeated DNA) elements contain guanine-rich homopurine sequences that induce unpairing of contiguous duplex DNA.
1988
TLC1 : Template RNA Component of Saccharomyces cerevisiae Telomerase
1994 Science
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1991 Standout
Telomerase activity in germline and embryonic cells of Xenopus.
1994 StandoutNobel
Isotypic and allotypic variation of human class II histocompatibility antigen α-chain genes
1984 Nature
Regulated expression of telomerase activity in human T lymphocyte development and activation.
1996
Gonadotropin-Releasing Hormone Deficiency in the Human (Idiopathic Hypogonadotropic Hypogonadism and Kallmann’s Syndrome): Pathophysiological and Genetic Considerations
1998
Molecular cloning of a polymorphic DNA endonuclease fragment associates insulin-dependent diabetes mellitus with HLA-DQ.
1987
GENETICS OF NON-INSULIN-DEPENDENT (TYPE-II) DIABETES MELLITUS
1996
Stabilization of short telomeres and telomerase activity accompany immortalization of Epstein-Barr virus-transformed human B lymphocytes
1994
Faster sequential genetic linkage computations.
1993
A systematic study of HLA class II-beta DNA restriction fragments in insulin-dependent diabetes mellitus.
1985
Cell Cycle Control and Cancer
1994 StandoutScienceNobel
Methylation of the HLA-DR alpha gene is positively correlated with expression
1987
Gene organization of DC and DX subregions of the human major histocompatibility complex.
1985
DAF-16 Target Genes That Control C. elegans Life-Span and Metabolism
2003 StandoutScienceNobel
PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
1996 StandoutScience
Quantitative Monitoring of Gene Expression Patterns with a Complementary DNA Microarray
1995 StandoutScience
Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.
1993 Standout
Medical and Ethical Consequences of the Human Genome Project
1991
Molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases to 1–1.5 Mb and preparation of a PAC-based physical map
1997
DR2+ haplotypes in insulin-dependent diabetes: Analysis of DNA restriction fragment length polymorphisms
1986
The Genetics of Aging
2001 StandoutNobel
Loss of heterozygosity at the familial RCC t(3;8) locus in most clear cell renal carcinomas.
1995
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
1993 Standout
Genetic Causes of Human Reproductive Disease
2002
De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies
1994 Science
Positional cloning: Let's not call it reverse anymore
1992
Reconstitution of human telomerase activity and identification of a minimal functional region of the human telomerase RNA.
1996 StandoutNobel
Use of pooled DNA samples to detect linkage disequilibrium of polymorphic restriction fragments and human disease: studies of the HLA class II loci.
1985
Expression of the KAL gene in multiple neuronal sites during chicken development.
1993
Genetic Dissection of Complex Traits
1994 StandoutScience
Evidence for a mitotic clock in human hematopoietic stem cells: loss of telomeric DNA with age.
1994
Specific Association of Human Telomerase Activity with Immortal Cells and Cancer
1994 StandoutScience
Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system
1996
The class II molecules of the human and murine major histocompatibility complex
1984
A new bacteriophage P1–derived vector for the propagation of large human DNA fragments
1994
Functional reconstitution of wild-type and mutant Tetrahymena telomerase.
1994 StandoutNobel
Breakpoint analysis: precise localization of genetic markers by means of nonstatistical computation using relatively few genotypes.
1995
Importance sampling. I. Computing multimodel p values in linkage analysis.
1992
Developmental and tissue-specific regulation of mouse telomerase and telomere length.
1995 StandoutNobel
daf-2 , an Insulin Receptor-Like Gene That Regulates Longevity and Diapause in Caenorhabditis elegans
1997 StandoutScienceNobel
Telomerase activity in normal leukocytes and in hematologic malignancies
1995
Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
1991 Science
The RNA Component of Human Telomerase
1995 StandoutScienceNobel
Telomerase activity in normal and malignant hematopoietic cells.
1995
Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence P(CCG) n
1991 Science
Differential Expression of Telomerase Activity in Hematopoietic Progenitors from Adult Human Bone Marrow
1996
Identification of a polymorphic variant associated with HLA-DQw3 and characterized by specific restriction sites within the DQ beta-chain gene.
1985
High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.
1992
The Molecular Biology of Axon Guidance
1996 StandoutScience
Telomerase Regulation, Cell Cycle, and Telomere Stability in Primitive Hematopoietic Cells
1997
Structure and function of telomeres
1991 StandoutNatureNobel
Synaptic Assembly of the Brain in the Absence of Neurotransmitter Secretion
2000 StandoutScienceNobel
Telomerase Regulation, Cell Cycle, and Telomere Stability in Primitive Hematopoietic Cells
1997
Identification by representational difference analysis of a homozygous deletion in pancreatic carcinoma that lies within the BRCA2 region.
1995
Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes
1986 StandoutNatureNobel
Identification of breakpoints in t(8;21) acute myelogenous leukemia and isolation of a fusion transcript, AML1/ETO, with similarity to Drosophila segmentation gene, runt
1992
Telomerase regulation during entry into the cell cycle in normal human T cells.
1996 StandoutNobel
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
DO beta: a new beta chain gene in HLA-D with a distinct regulation of expression.
1985
Nucleotide sequence of an HLA-DQ alpha chain derived from a DRw9 cell line: genetic and evolutionary implications.
1985
Cloning and sequence analysis of the human major histocompatibility complex gene DC-3 beta.
1984
DPC4 , A Candidate Tumor Suppressor Gene at Human Chromosome 18q21.1
1996 StandoutScience
Extension of Life-Span by Introduction of Telomerase into Normal Human Cells
1998 StandoutScience
Human naive and memory T lymphocytes differ in telomeric length and replicative potential.
1995
A strategy for constructing high-resolution genetic maps of the human genome: a genetic map of chromosome 17p, ordered with meiotic breakpoint-mapping panels.
1995
Works of Daniel Cohen being referenced
Genetic associations with human longevity at the APOE and ACE loci
1994 Standout
A first-generation physical map of the human genome
1993 Nature
Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15
1992
Centre d'Etude du polymorphisme humain (CEPH): Collaborative genetic mapping of the human genome
1990 Nobel
Integrated YAC contig containing the 3pl4.2 hereditary renal carcinoma 3;8 translocation breakpoint and the fragile site FRA3B
1994
Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region
1992
Characterization and chromosomal assignment of yeast artificial chromosomes containing human 3p13-p21-specific sequence tagged sites
1995
Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus
1992 Nature
Cyclic GMP–AMP signalling protects bacteria against viral infection
2019 Nature
A human chromosome 7 yeast artificial chromosome (YAC) resource: construction, characterization, and screening
1995
Glucokinase as pancreatic beta cell glucose sensor and diabetes gene.
1993
Isolation of chromosome 21–specific yeast artificial chromosomes from a total human genome library
1992
Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus
1992 Nature
Familial Hyperglycemia Due to Mutations in Glucokinase -- Definition of a Subtype of Diabetes Mellitus
1993
European Gene Mapping Project(EUROGEM): Genetic Maps basedon the CEPH reference families
1994 Nobel
Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers.
1994
Exuberant restriction fragment length polymorphism associated with the DQ alpha-chain gene and the DX alpha-chain gene.
1985
Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young.
1993
Theoretical analysis of a physical mapping strategy using random single-copy landmarks.
1991 Nobel
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
1991
Class II HLA-DC beta-chain DNA restriction fragments differentiate among HLA-DR2 individuals in insulin-dependent diabetes and multiple sclerosis.
1984
Six Mutations in the Glucokinase Gene Identified in MODY by Using a Nonradioactive Sensitive Screening Technique
1994
Loss of telomeric DNA during aging of normal and trisomy 21 human lymphocytes.
1993
Assessing Mapping Progress in the Human Genome Project
1994 Science
A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene.
1996
Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.
1993
The CEPH YAC library.
1992 Nobel
Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents.
1990 Nobel
"Retroposon" insertion into the cellular oncogene c-myc in canine transmissible venereal tumor.
1985
Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA Leu(UUR) gene
1994
Linkage Analysis and Molecular Scanning of Glucokinase Gene in NIDDM Families
1993
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
1995
Genetic mapping of a human class II antigen beta-chain cDNA clone to the SB region of the HLA complex.
1983
Clusters of HLA class II beta restriction fragments describe allelic series.
1984
HLA-DR2-associated Dw subtypes correlate with RFLP clusters: most DR2 IDDM patients belong to one of these clusters
1986
Isolation of Sequences that Span the Fragile X and Identification of a Fragile X-Related CpG Island
1991 Science