Citation Impact
Citing Papers
Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
2005 Standout
Structural Roles for Human Translation Factor eIF3 in Initiation of Protein Synthesis
2005 StandoutScienceNobel
DNA Sequence and Regional Assignment of the Human Follicle-Stimulating Hormone β-Subunit Gene to the Short Arm of Human Chromosome 11
1987
Drosophila homologs of two mammalian intracellular Ca2+-release channels: identification and expression patterns of the inositol 1,4,5- triphosphate and the ryanodine receptor genes
1992 StandoutNobel
Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface
2013
Structure of a mammalian ryanodine receptor
2014 StandoutNatureNobel
Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17
1989
Structural Basis for Gating and Activation of RyR1
2016 StandoutNobel
Linkage of a Gene Causing Familial Amyotrophic Lateral Sclerosis to Chromosome 21 and Evidence of Genetic-Locus Heterogeneity
1991 StandoutNobel
Identification of ATP-Binding Regions in the RyR1 Ca2+ Release Channel
2012
The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus
1992 Standout
Four new DNA markers are assigned to the WAGR region of 11p13: Isolation and regional assignment of 112 chromosome 11 anonymous DNA segments
1988
Homozygous deletion of a DNA marker from chromosome 11p13 in sporadic Wilms tumor
1988
Characterization of a panel of somatic cell hybrids for subregional mapping along 11p and within band 11p13
1989
Disease Mutations in the Ryanodine Receptor Central Region: Crystal Structures of a Phosphorylation Hot Spot Domain
2012
Assignment of the human angiotensin II type 2 receptor gene (AGTR2) to chromosome Xq22–q23 by fluorescence in situ hybridization
1995
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2
1991
An alternative pathway for yeast telomere maintenance rescues est1− senescence
1993 StandoutNobel
A genome-wide comparison of recent chimpanzee and human segmental duplications
2005 StandoutNatureNobel
The human Y chromosome shows a low level of DNA polymorphism
1990
Behavioural and cardiovascular effects of disrupting the angiotensin II type-2 receptor gene in mice
1995 StandoutNatureNobel
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
1991 Standout
Regional mapping panel for human chromosome 17: Application to neurofibromatosis type 1
1987
Expression cloning of a cDNA encoding a retinoblastoma-binding protein with E2F-like properties
1992 StandoutNobel
Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents
1992 StandoutNobel
Stabilization of calcium release channel (ryanodine receptor) function by FK506-binding protein
1994
Degeneration of skeletal muscle, peripheral nerves, and the central nervous system in transgenic mice overexpressing wild-type prion proteins
1994 StandoutNobel
A fine-structure deletion map of human chromosome 11p: Analysis of J1 series hybrids
1989
The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations
1990
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17
1989
Tumor suppressor genes
1991 Standout
Transcription factor b (TFIIH) is required during nucleotide-excision repair in yeast
1994 StandoutNatureNobel
The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14
1993 StandoutNobel
Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping
1990 StandoutNature
A genetic map of human chromosome 17p
1990
The candidate Wilms' tumour gene is involved in genitourinary development
1990 Nature
Escape from X inactivation
2002
Molecular genetic analysis of tumors in von recklinghausen neurofibromatosis: Loss of heterozygosity for chromosome 17
1989
Familial predisposition to Wilms' tumour does not map to the short arm of chromosome 11
1988 Nature
Long range physical map of the Wilms' tumor-aniridia region on human chromosome 11
1988
A genetic linkage map of the human genome
1987
The structure and evolution of centromeric transition regions within the human genome
2004 Nature
Patterning of the Caenorhabditis elegans head region by the Pax-6 family member vab-3
1995 StandoutNatureNobel
Reduction to homozygosity is the predominant spontaneous mutational event in cultured human lymphoblastoid cells
1991
Molecular cloning, functional expression, and signaling characteristics of a C-C chemokine receptor
1993
A mapped set of DNA markers for human chromosome 17
1988
Cell-permeant caged InsP3 ester shows that Ca2+ spike frequency can optimize gene expression
1998 StandoutNatureNobel
A physical map around the WAGR complex on the short arm of chromosome 11
1989
The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene
1988 Standout
Segmental expression of Hoxb-1 is controlled by a highly conserved autoregulatory loop dependent upon exd/pbx
1995 StandoutNobel
Complete physical map of the WAGR region of 11p13 localizes a candidate Wilms' tumor gene
1990
Inositol trisphosphate and calcium signalling
1993 StandoutNature
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus
1990 Standout
The Drosophila takeout Gene Is a Novel Molecular Link between Circadian Rhythms and Feeding Behavior
2000 StandoutNobel
Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene
1992
Genetic Alterations during Colorectal-Tumor Development
1988 Standout
The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins
1990
A mapped set of DNA markers for human chromosome 15
1988
Emptying of intracellular Ca2+ stores releases a novel small messenger that stimulates Ca2+ influx
1993 StandoutNatureNobel
TGFα deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice
1993 StandoutNobel
Cyclin A and the retinoblastoma gene product complex with a common transcription factor
1991 StandoutNatureNobel
Fluorescent indicators for Ca2+based on green fluorescent proteins and calmodulin
1997 StandoutNatureNobel
The human X-inactivation centre is not required for maintenance of X-chromosome inactivation
1994 Nature
Hypermutability and mismatch repair deficiency in RER+ tumor cells
1993 StandoutNobel
Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.
1989
An Animal Model for Cystic Fibrosis Made by Gene Targeting
1992 StandoutScienceNobel
A deletion map of the WAGR region on chromosome 11.
1989
Crystal structures of wild type and disease mutant forms of the ryanodine receptor SPRY2 domain
2014
Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping
1989 StandoutScience
Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis.
1990
The human T-cell receptor α-chain gene maps to chromosome 14
1985 StandoutNatureNobel
Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene.
1988
Transforming growth factor-α in the mammalian brain
1989
Genetic mechanisms of tumor-specific loss of 11p DNA sequences in Wilms tumor.
1987
Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis
1987
Recombinations between IRP and cystic fibrosis.
1988
Gene losses in human tumours
1988 Nature
Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits.
1988
A first-generation X-inactivation profile of the human X chromosome
1999
Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus
1990 Standout
Cloning of Breakpoints of a Chromosome Translocation Identifies the AN2 Locus
1989 Science
The T cell receptor β chain genes are located on chromosome 6 in mice and chromosome 7 in humans
1984
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.
1990
Mechanisms of DNA Excision Repair
1994 StandoutScienceNobel
Progress towards identifying the neurofibromatosis (NF1) gene
1989
Efficient computations in multilocus linkage analysis.
1988
Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).
1989
Domainal evolution of a prokaryotic DNA repair protein and its relationship to active-transport proteins
1986 StandoutNatureNobel
Molecular Basis of Ca2+ Activation of the Mouse Cardiac Ca2+ Release Channel (Ryanodine Receptor)
2001
Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7.
1987
Concerted Nonsyntenic Allelic Loss in Human Colorectal Carcinoma
1988 Science
Mitotic recombination of chromosome 17 in astrocytomas.
1989
Requirement of Mip-1α for an Inflammatory Response to Viral Infection
1995 StandoutScienceNobel
Two NF1 Translocations Map Within a 600-Kilobase Segment of 17q11.2
1989 Science
Reactivation of the Paternal X Chromosome in Early Mouse Embryos
2004 StandoutScienceNobel
HUMAN TUMOR SUPPRESSOR GENES
1990
Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.
1990
Chromosomal Locations of the Murine T-Cell Receptor Alpha-Chain Gene and the T-Cell Gamma Gene
1985 StandoutScienceNobel
Expression of the T-cell-specific γ gene is unnecessary in T cells recognizing class II MHC determinants
1985 StandoutNatureNobel
Cases of neurofibromatosis with rearrangements of chromosome 17 involving band 17q11.2
1987
Sequence variation of the human Y chromosome
1995 StandoutNatureNobel
Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type I.
1989
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
1987 Standout
Telomeres and Their Synthesis
1990 StandoutScienceNobel
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
1988
Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study.
1986
Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients
1990 StandoutScience
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene
1986 Nature
Prenatal Diagnosis and Detection of Carriers with DNA Probes in Duchenne's Muscular Dystrophy
1987
Clonal Analysis of Human Colorectal Tumors
1987 Science
Structure of a novel InsP3 receptor.
1991 StandoutNobel
Precise localization of NF1 to 17q11.2 by balanced translocation.
1989
Reduction to Homozygosity of Genes on Chromosome 11 in Human Breast Neoplasia
1987 Science
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.
1987
Reverse genetics and human disease
1986
Molecular characterization of the human excision repair gene : cDNA cloning and amino acid homology with the yeast DNA repair gene
1986
Clonal analysis using recombinant DNA probes from the X-chromosome.
1987
Photoaffinity labeling of the ryanodine receptor/Ca2+ release channel with an azido derivative of ryanodine.
1994
Cloning human telomeric DNA fragments into Saccharomyces cerevisiae using a yeast-artificial-chromosome vector.
1989
Antagonism of Catecholamine Receptor Signaling by Expression of Cytoplasmic Domains of the Receptors
1993 StandoutScienceNobel
Genetic analysis of cystic fibrosis using linked DNA markers.
1986
Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy
1987
Two Anonymous DNA Segments Distinguish the Wilms' Tumor and Aniridia Loci
1988 Science
Multipoint linkage analysis in neurofibromatosis type I: an international collaboration.
1989
Physical Mapping of a Translocation Breakpoint in Neurofibromatosis
1989 Science
The scanning model for translation: an update.
1989 Standout
Structure and function of telomeres
1991 StandoutNatureNobel
Effects of Rapamycin on Ryanodine Receptor/Ca 2+ -Release Channels From Cardiac Muscle
1996
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment
1985 Nature
Chromosome 17 Deletions and p53 Gene Mutations in Colorectal Carcinomas
1989 StandoutScience
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome
1986
Mechanisms of p53 loss in human sarcomas.
1990
Works of H.F. Willard being referenced
Genetic analysis of NF1: Identification of close flanking markers on chromosome 17
1987
Chromosome-specific subsets of human alpha satellite DNA: Analysis of sequence divergence within and between chromosomal subsets and evidence for an ancestral pentameric repeat
1987
The Spreading of X Inactivation into Autosomal Material of an X;autosome Translocation: Evidence for a Difference between Autosomal and X-Chromosomal DNA
1998
Noninactivation of a selectable human X-linked gene that complements a murine temperature-sensitive cell cycle defect.
1989
The β-subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus
1986 Nature
Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum.
1990
Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps.
1986
Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.
1986
Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 622-643
1989
Molecular cloning and chromosomal localization of DNA sequences associated with a human DNA repair gene.
1985
Genetic analysis of eight loci tightly linked to neurofibromatosis 1.
1989
Report of the committee on the genetic constitution of the X chromosome (Part 1 of 7)
1991
PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs
1985
Linkage of cystic fibrosis to the proα 2(I) collagen gene, COL1A2, on chromosome 7
1986
Molecular analysis of gene deletion in aniridia-Wilms tumor association
1985
The order of loci in the pericentric region of chromosome 17, based on evidence from physical and genetic breakpoints.
1989
Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase.
1985
A sensitive and dependable assay for distinguishing hamster and human X-linked steroid sulfatase activity in somatic cell hybrids
1984
Localization of a gene that escapes inactivation to the X chromosome proximal short arm: implications for X inactivation.
1990
Gene order on the short arm of human chromosome 11: regional assignment of the LDH A gene distal to catalase in two translocations
1985
Genetic linkage map of human chromosome 7 with 63 DNA markers.
1987
Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17
1987 Science