Citation Impact
Citing Papers
Triggering a Cell Shape Change by Exploiting Preexisting Actomyosin Contractions
2012 StandoutScienceNobel
Angiotensin II causes hypertension and cardiac hypertrophy through its receptors in the kidney
2006 StandoutNobel
The human olfactory receptor gene family
2004 StandoutNobel
Assignment of the gene encoding the beta‐subunit of the human fibronectin receptor (β‐FNR) to chromosome 10p11.2
1989
Finishing the euchromatic sequence of the human genome
2004 StandoutNature
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications
2002
Effects of an Rb mutation in the mouse
1992 StandoutNature
Protein Kinase A and G Protein-coupled Receptor Kinase Phosphorylation Mediates β-1 Adrenergic Receptor Endocytosis through Different Pathways
2003 StandoutNobel
Gene Content and Function of the Ancestral Chromosome Fusion Site in Human Chromosome 2q13–2q14.1 and Paralogous Regions
2002
Molecular and phenotypic characterization of ring chromosome 22
2005
Loss of constitutional heterozygosity in colon carcinoma from patients with familial polyposis coli
1988 Nature
The epigenetic regulation of mammalian telomeres
2007
Lack of linkage of familial Wilms' tumour to chromosomal band 11 p13
1988 Nature
A genome-wide comparison of recent chimpanzee and human segmental duplications
2005 StandoutNatureNobel
Recent duplication, domain accretion and the dynamic mutation of the human genome
2001
A genetic model for colorectal tumorigenesis
1990 Standout
A comprehensive genetic map of the human genome based on 5,264 microsatellites
1996 StandoutNature
A primary genetic map of markers for human chromosome 10
1988
Vasoregulation by the β1 subunit of the calcium-activated potassium channel
2000 Nature
Hedgehog Controls Limb Development by Regulating the Activities of Distinct Transcriptional Activator and Repressor Forms of Cubitus interruptus
1999
The ground state of embryonic stem cell self-renewal
2008 StandoutNature
The Role of Ionotropic Glutamate Receptors in Childhood Neurodevelopmental Disorders: Autism Spectrum Disorders and Fragile X Syndrome
2014
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
APC mutations occur early during colorectal tumorigenesis
1992 StandoutNature
Regulated portals of entry into the cell
2003 StandoutNature
Cell Death
2004 Standout
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
1991 StandoutNature
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements
2003
Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping
1990 StandoutNature
Development of multiple endocrine neoplasia type 2A does not involve substantial deletions of chromosome 10
1989
Tapping diversity lost in transformations—in vitro amplification of ligation reactions
2006 StandoutNobel
Immune Checkpoint Targeting in Cancer Therapy: Toward Combination Strategies with Curative Potential
2015 StandoutNobel
α-Latrotoxin Receptor CIRL/Latrophilin 1 (CL1) Defines an Unusual Family of Ubiquitous G-protein-linked Receptors
1998 StandoutNobel
Molecular cloning oflin-29, a heterochronic gene required for the differentiation of hypodermal cells and the cessation of molting inC.elegans
1991 StandoutNobel
Familial bone marrow monosomy 7. Evidence that the predisposing locus is not on the long arm of chromosome 7.
1989
A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10
1993
A genetic linkage map of the human genome
1987
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine
2000 StandoutNature
A gene expression atlas of the central nervous system based on bacterial artificial chromosomes
2003 StandoutNature
Identification of cellular proteins that can interact specifically with the T/ElA-binding region of the retinoblastoma gene product
1991 StandoutNobel
A mapped set of DNA markers for human chromosome 17
1988
Human-Specific Duplication and Mosaic Transcripts: The Recent Paralogous Structure of Chromosome 22
2002
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
1994 StandoutNature
Molecular analysis of a myxoid chondrosarcoma with rearrangements of chromosomes 10 and 22
1990
Evidence implicating heterozygous deletion of chromosome 7 in the pathogenesis of familial leukemia associated with monosomy 7
1992
Narrowing the critical region for a rhabdoid tumor locus in 22q11
1996
Neuroligins and neurexins link synaptic function to cognitive disease
2008 StandoutNatureNobel
The mosaic that is our genome
2003 StandoutNatureNobel
Genome architecture, rearrangements and genomic disorders
2002
Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
2006
Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours
1992 StandoutNature
A telomeric sequence in the RNA of Tetrahymena telomerase required for telomere repeat synthesis
1989 StandoutNatureNobel
Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer
1998 StandoutNature
The Hallmarks of Aging
2013 Standout
Genetic Alterations during Colorectal-Tumor Development
1988 Standout
A mapped set of DNA markers for human chromosome 15
1988
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
1990 StandoutNature
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
1990 StandoutNature
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
2003
Genetics and development of neural tube defects
2009
Segmental duplications: an 'expanding' role in genomic instability and disease
2001
22q13 microduplication in two patients with common clinical manifestations: A recognizable syndrome?
2007
HETEROCHROMATIN AND GENE EXPRESSION IN DROSOPHILA
1995
Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes
1998
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
2006
Elucidation of AMPA receptor–stargazin complexes by cryo–electron microscopy
2016 StandoutScienceNobel
Development of Genetic and Genomic Research Resources for Brachypodium distachyon, a New Model System for Grass Crop Research
2008
Gene losses in human tumours
1988 Nature
The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development.
1997
The Protein Kinase Complement of the Human Genome
2002 StandoutScience
Tumor Suppressor Genes: The Puzzle and the Promise
1989 Science
Tumor Suppressor Genes
1991 Science
A Century of Alzheimer's Disease
2006 StandoutScience
The rate of telomere sequence loss in human leukocytes varies with age
1998 StandoutNobel
Genome sequencing and analysis of the model grass Brachypodium distachyon
2010 StandoutNature
Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma.
1989
Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families.
1988
Clathrin
2000
A General Mechanism for Network-Dosage Compensation in Gene Circuits
2010 StandoutScienceNobel
EMR1, an unusual member in the family of hormone receptors with seven transmembrane segments
1995
Identification of the Cystic Fibrosis Gene: Genetic Analysis
1989 StandoutScience
Structural Rearrangement of the Retinoblastoma Gene in Human Breast Carcinoma
1988 Science
Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21
1990 StandoutScience
p53: A Frequent Target for Genetic Abnormalities in Lung Cancer
1989 StandoutScience
Genetic Dissection of Complex Traits
1994 StandoutScience
Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
1989 StandoutScience
G 1 Events and Regulation of Cell Proliferation
1989 StandoutScience
Genomic analysis of orthologous mouse and human olfactory receptor loci
2001 StandoutNobel
Low incidence of loss of chromosome 10 in sporadic and hereditary human medullary thyroid carcinoma.
1989
Distal deletion of chromosome Ip in ductal carcinoma of the breast.
1989
Structural Dynamics of Eukaryotic Chromosome Evolution
2003 StandoutScience
Exclusion of the retinoblastoma gene and chromosome 13q as the site of a primary lesion for human breast cancer.
1990
Bid, a Widely Expressed Proapoptotic Protein of the Bcl-2 Family, Displays Lipid Transfer Activity
2001
Biological Basket Weaving: Formation and Function of Clathrin-Coated Vesicles
2001
Terminal 22q Deletion Syndrome: A Newly Recognized Cause of Speech and Language Disability in the Autism Spectrum
2004
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
Chromosome 17 Deletions and p53 Gene Mutations in Colorectal Carcinomas
1989 StandoutScience
Hierarchical order in chromosome-specific human alpha satellite DNA
1987
DPC4 , A Candidate Tumor Suppressor Gene at Human Chromosome 18q21.1
1996 StandoutScience
Works of Heather E. McDermid being referenced
Identification of a Putative Regulatory Subunit of a Calcium-Activated Potassium Channel in the dup(3q) Syndrome Region and a Related Sequence on 22q11.2
1999
Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints
1998
A map of 22 loci on human chromosome 22
1991
Regional Localization of over 300 Loci on Human Chromosome 22 Using a Somatic Cell Hybrid Mapping Panel
1996
22q13 deletion syndrome
2001
Two Novel Human RAB Genes with Near Identical Sequence Each Map to a Telomere-Associated Region: The Subtelomeric Region of 22q13.3 and the Ancestral Telomere Band 2q13
1999
Toward a long-range map of human chromosomal band 22q11
1989
The E subunit of vacuolar H+-ATPase localizes close to the centromere on human chromosome 22
1994
Genomic Disorders on 22q11
2002
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
1995
Analysis ofDrosophila chromosome4 using pulsed field gel electrophoresis
1993
The Gene for Death Agonist BID Maps to the Region of Human 22q11.2 Duplicated in Cat Eye Syndrome Chromosomes and to Mouse Chromosome 6
1998
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)
2011
Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome
2005
Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion
1992
Long-Range Restriction Map of Human Chromosome 22q11-22q12 between the Lambda Immunoglobulin Locus and the Ewing Sarcoma Breakpoint
1993
Disruption of the Clathrin Heavy Chain-Like Gene (CLTCL) Associated with Features of DGS/VCFS: A Balanced (21;22)(p12;q11) Translocation
1997
CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L
2005
Modifier locus for exencephaly inCecr2mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans
2007
Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.
1997
Position effect of human telomeric repeats on replication timing
1999
Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.
1997
Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage
1987 Nature
Characterization of the Supernumerary Chromosome in Cat Eye Syndrome
1986 Science
A polymorphic locus, D10S5, at 10q21.1
1987
Isolation and characterization of an ?-satellite repeated sequence from human chromosome 22
1986
Cross-screening: a new method to assemble clones rapidly and unambiguously into contigs.
1996