Citation Impact
Citing Papers
Mice deficient in Ext2 lack heparan sulfate and develop exostoses
2005
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate
2000
A Visualizable Chain‐Terminating Inhibitor of Glycosaminoglycan Biosynthesis in Developing Zebrafish
2014 StandoutNobel
Heparin-Protein Interactions
2002 Standout
Role of mammalian Y chromosome in sex determination
1988
Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene
1992
Posterior pattern formation in C. elegans involves position-specific expression of a gene containing a homeobox
1988 StandoutNobel
Male development of chromosomally female mice transgenic for Sry
1991 StandoutNature
The Stem Region of the Sulfotransferase GlcNAc6ST-1 Is a Determinant of Substrate Specificity
2004 StandoutNobel
A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31‐q14.3
2010 StandoutNobel
Hereditary multiple exostoses and heparan sulfate polymerization
2002
The selection and function of cell type-specific enhancers
2015
Single haplotype assembly of the human genome from a hydatidiform mole
2014
Construction of gene libraries for each human chromosome
1990
Genetic evidence that ZFY is not the testis-determining factor
1989 Nature
Effective gene expression prediction from sequence by integrating long-range interactions
2021 StandoutNobel
Structural variation in the human genome
2006
Detection of large-scale variation in the human genome
2004 Standout
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Soft-Tissue Sarcomas in Adults
2005 Standout
The new bone biology: Pathologic, molecular, and clinical correlates
2006
The roles of enzyme localisation and complex formation in glycan assembly within the Golgi apparatus
2004 StandoutNobel
Targeting the Hedgehog pathway in cancer
2006 Standout
Transcriptional Pause Sites Delineate Stable Nucleosome-Associated Premature Polyadenylation Suppressed by U1 snRNP
2018
Palindrome-mediated chromosomal translocations in humans
2006
The molecular biology of SRY and its role in sex determination in mammals
1995
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
1997 Standout
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes
1996
Analysis of chromosome breakpoints in neuroblastoma at sub‐kilobase resolution using fine‐tiling oligonucleotide array CGH
2005
The sex-determining region of the human Y chromosome encodes a finger protein
1987
U1 snRNP regulates cancer cell migration and invasion in vitro
2020 Standout
A novel human DNA polymorphism resulting from transfer of DNA from chromosome 6 to chromosome 16
1990
The molecular genetics of embryonic pattern formation in Drosophila
1988 StandoutNature
High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor
2007
Hedgehog signaling in animal development: paradigms and principles
2001 Standout
Sex Chromosomal Transposable Element Accumulation and Male-Driven Substitutional Evolution in Humans
2000 StandoutNobel
A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes
1990 StandoutNature
A novel dominant transformer allele of the sex-determining gene her-1 of Caenorhabditis elegans.
1988 StandoutNobel
Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes
1987
Deregulated Expression of Mammalian lncRNA through Loss of SPT6 Induces R-Loop Formation, Replication Stress, and Cellular Senescence
2018
Genome-Scale Identification of SARS-CoV-2 and Pan-coronavirus Host Factor Networks
2020 StandoutNobel
The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate
1998
The many roles of histone deacetylases in development and physiology: implications for disease and therapy
2008 Standout
Prescribing Personalized Nutrition for Cardiovascular Health: Are We Ready?
2014 Standout
10 Years of GWAS Discovery: Biology, Function, and Translation
2017 Standout
Golgi Localization of Carbohydrate Sulfotransferases Is a Determinant of L-selectin Ligand Biosynthesis
2003 StandoutNobel
Recent developments in epigenetics of acute and chronic kidney diseases
2015
Non-B DNA Conformations, Genomic Rearrangements, and Human Disease
2004
The Putative Tumor Suppressors EXT1 and EXT2 Are Glycosyltransferases Required for the Biosynthesis of Heparan Sulfate
1998
1 The Role of Sry in Cellular Events Underlying Mammalian Sex Determination
1996
Selection Signatures in Worldwide Sheep Populations
2014 Standout
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
1990 StandoutNature
22q11.2 deletion syndrome
2015 Standout
Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene
1997
Endocrine Disruption in Wildlife: A Critical Review of the Evidence
1998 Standout
Hedgehog Signaling in Development and Cancer
2008 Standout
Chronic Kidney Disease
2016 Standout
Gene regulation by long non-coding RNAs and its biological functions
2020 Standout
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease
2004
HoxGroup 3 Paralogs Regulate the Development and Migration of the Thymus, Thyroid, and Parathyroid Glands
1998 StandoutNobel
Model of autism: increased ratio of excitation/inhibition in key neural systems
2003 Standout
Glycosaminoglycans and their proteoglycans: host‐associated molecular patterns for initiation and modulation of inflammation
2006 Standout
Ordering of Y-specific sequences by deletion mapping and analysis of X-Y interchange males and females
1987
Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping
1989 StandoutScience
Accumulation of the FACT complex, as well as histone H3.3, serves as a target marker for somatic hypermutation
2013 StandoutNobel
Integration of human papillomavirus type 6a DNA in a tonsillar carcinoma: chromosomal localization and nucleotide sequence of the genomic target region.
1994 StandoutNobel
Hedgehog signaling and congenital malformations
2004
A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development.
1993
An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness
1987
SQV-7, a protein involved in Caenorhabditis elegans epithelial invagination and early embryogenesis, transports UDP-glucuronic acid, UDP- N - acetylgalactosamine, and UDP-galactose
2001 StandoutNobel
Decrease in topoisomerase I is responsible for activation-induced cytidine deaminase (AID)-dependent somatic hypermutation
2011 StandoutNobel
Sex determination and sex differentiation in fish: an overview of genetic, physiological, and environmental influences
2002 Standout
Reconstructing the DNA Methylation Maps of the Neandertal and the Denisovan
2014 StandoutScienceNobel
The Human Y Chromosome: A 43-Interval Map Based on Naturally Occurring Deletions
1992 Science
Molecular Genetics and Cytogenetics of Sarcomas
1995
Functional Coherence of the Human Y Chromosome
1997 StandoutScience
DNA Mismatch Repair: Functions and Mechanisms
2005 StandoutNobel
Evolution of the genome and the genetic code: selection at the dinucleotide level by methylation and polyribonucleotide cleavage.
1989 StandoutNobel
Sex determination in mammals
1988
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
The Mechanism of Double-Strand DNA Break Repair by the Nonhomologous DNA End-Joining Pathway
2010 Standout
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
1987 Standout
Identification of a Second Pseudoautosomal Region Near the Xq and Yq Telomeres
1992 Science
A Genetic Approach to the Transcriptional Regulation ofHoxGene Clusters
2011
Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: Implications for X-Y interchange
1987
The Leucine Zipper: A Hypothetical Structure Common to a New Class of DNA Binding Proteins
1988 StandoutScience
Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency)
1987
Structural Variation of the Human Genome
2006
Homoeobox gene Hox-1.5 expression in mouse embryos: earliest detection by in situ hybridization is during gastrulation
1987
Developmental Pathways in Musculoskeletal Neoplasia: Involvement of the Indian Hedgehog-Parathyroid Hormone-Related Protein Pathway
2003
Functions of Cell Surface Heparan Sulfate Proteoglycans
1999 Standout
Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.
1995
Suppression subtractive hybridization: a method for generating differentially regulated or tissue-specific cDNA probes and libraries.
1996 Standout
XX true hermaphroditism in southern African blacks: an enigma of primary sexual differentiation.
1988
Copy Number Variation in Human Health, Disease, and Evolution
2009
Normal and abnormal interchanges between the human X and Y chromosomes
1987
Works of April Cook being referenced
MNase titration reveals differences between nucleosome occupancy and chromatin accessibility
2016
Nucleosomal occupancy changes locally over key regulatory regions during cell differentiation and reprogramming
2014
The amphioxus Hox cluster: characterization, comparative genomics, and evolution
2008
The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats
2004
Genetic heterogeneity in families with hereditary multiple exostoses.
1993
Regional assignment of Y-linked DNA probes by deletion mapping and their homology with X- chromosome and autosomal sequences
1986
Variable transfer of Y-specific sequences in XX males
1986