Citation Impact
Citing Papers
Genetics of mouse growth
1998
Concordant Regulation of Gene Expression by Hypoxia and 2-Oxoglutarate-dependent Dioxygenase Inhibition
2006 StandoutNobel
Role of mammalian Y chromosome in sex determination
1988
Tipin-Replication Protein A Interaction Mediates Chk1 Phosphorylation by ATR in Response to Genotoxic Stress
2010 StandoutNobel
High-Resolution Analysis of DNA Copy Number Using Oligonucleotide Microarrays
2004
Aicardi‐Goutières syndrome: An update and results of interferon‐α studies
1998
Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome
2007 StandoutNobel
Mammalian Fe–S cluster biogenesis and its implication in disease
2014
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
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21
2006 StandoutNature
Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma
2005 StandoutNature
Radiochemical Malonyl-CoA Decarboxylase Assay: Activity and Subcellular Distribution in Heart and Skeletal Muscle
2002
mTOR Interacts with Raptor to Form a Nutrient-Sensitive Complex that Signals to the Cell Growth Machinery
2002 Standout
Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man
1989
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
1994 StandoutNature
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
1993
Genetic evidence that ZFY is not the testis-determining factor
1989 Nature
Malonyl-CoA decarboxylase is a major regulator of myocardial fatty acid oxidation
2005
Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith–Wiedemann and Simpson–Golabi–Behmel syndromes
1997
Reduced Life- and Healthspan in Mice Carrying a Mono-Allelic BubR1 MVA Mutation
2012
Neurobehavioral Alterations in a Genetic Murine Model of Feingold Syndrome 2
2015
The molecular landscape of ASPM mutations in primary microcephaly
2008
Autosomal Recessive Primary Microcephaly (MCPH): A Review of Clinical, Molecular, and Evolutionary Findings
2005
Differential Roles for Sox15 and Sox2 in Transcriptional Control in Mouse Embryonic Stem Cells
2005 StandoutNobel
Mitochondria: In Sickness and in Health
2012 Standout
Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism
2003
Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene
2000 StandoutNature
Rapid Single-Step Induction of Functional Neurons from Human Pluripotent Stem Cells
2013 StandoutNobel
Cleft lip and palate: understanding genetic and environmental influences
2011 Standout
DMY is a Y-specific DM-domain gene required for male development in the medaka fish
2002 StandoutNature
Metazoan MicroRNAs
2018 Standout
Nucleotide Excision Repair in Human Cells
2013 StandoutNobel
Mapping Sites of O-Glycosylation and Fringe Elongation on Drosophila Notch
2016
Human DNA damage response and repair deficiency syndromes: Linking genomic instability and cell cycle checkpoint proficiency
2009
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY
1990 Nature
Familial Chilblain Lupus, a Monogenic Form of Cutaneous Lupus Erythematosus, Maps to Chromosome 3p
2006
Stochastic cancer progression driven by non‐clonal chromosome aberrations
2006
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1
2010
Angelman syndrome: a review of clinical and genetic aspects
1999
The sex-determining region of the human Y chromosome encodes a finger protein
1987
On the Dependency of Cellular Protein Levels on mRNA Abundance
2016 Standout
Arthrogryposis: A Review and Update
2009
Increased expression of BubR1 protects against aneuploidy and cancer and extends healthy lifespan
2012
The molecular genetics of embryonic pattern formation in Drosophila
1988 StandoutNature
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis
2019 StandoutNobel
The Human ATP-Binding Cassette (ABC) Transporter Superfamily
2001
The Cfd1–Nbp35 complex acts as a scaffold for iron-sulfur protein assembly in the yeast cytosol
2007
SOX9 Regulates Prostaglandin D Synthase Gene Transcription in Vivo to Ensure Testis Development
2007
The causes and consequences of genetic heterogeneity in cancer evolution
2013 StandoutNature
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
Evolutionary conservation and in vitro reconstitution of microsporidian iron–sulfur cluster biosynthesis
2017
Causes and consequences of aneuploidy in cancer
2012
Shining a Light on Xeroderma Pigmentosum
2012
Phylogeny of the SOX Family of Developmental Transcription Factors Based on Sequence and Structural Indicators
2000
Sox18 induces development of the lymphatic vasculature in mice
2008 StandoutNature
Aneuploidy Acts Both Oncogenically and as a Tumor Suppressor
2006
Quantitative reactivity profiling predicts functional cysteines in proteomes
2010 StandoutNatureNobel
Cell cycle, CDKs and cancer: a changing paradigm
2009 Standout
Neuronal nicotinic receptors: from structure to pathology
2004
The role of senescent cells in ageing
2014 StandoutNature
Gene Copy-Number Alterations: A Cost-Benefit Analysis
2013
The Hallmarks of Aging
2013 Standout
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis
2012
Naturally occurring p16Ink4a-positive cells shorten healthy lifespan
2016 StandoutNature
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
1990 StandoutNature
Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D
2012
A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
1999
Tumour evolution inferred by single-cell sequencing
2011 StandoutNature
Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: do the genes explain the diseases?
1996
Ohtahara syndrome with emphasis on recent genetic discovery
2011
The cancer genome
2009 StandoutNature
p21 Both Attenuates and Drives Senescence and Aging in BubR1 Progeroid Mice
2013
Trex1 Exonuclease Degrades ssDNA to Prevent Chronic Checkpoint Activation and Autoimmune Disease
2007 StandoutNobel
Function and biogenesis of iron–sulphur proteins
2009 Nature
Mitochondrial Mayhem: The Mitochondrion as a Modulator of Iron Metabolism and Its Role in Disease
2011
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
The Molecular Action and Regulation of the Testis-Determining Factors, SRY (Sex-Determining Region on the Y Chromosome) and SOX9 [SRY-Related High-Mobility Group (HMG) Box 9]
2003
In vitro repair of oxidative DNA damage by human nucleotide excision repair system: Possible explanation for neurodegeneration in Xeroderma pigmentosum patients
1997 StandoutNobel
An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness
1987
Myocardial Fatty Acid Metabolism in Health and Disease
2010 Standout
A ZFY-negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary
1990
The Human Y Chromosome: A 43-Interval Map Based on Naturally Occurring Deletions
1992 Science
Cancer chromosomal instability: therapeutic and diagnostic challenges
2012
DAF-16 Target Genes That Control C. elegans Life-Span and Metabolism
2003 StandoutScienceNobel
Functional Coherence of the Human Y Chromosome
1997 StandoutScience
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
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
2013 StandoutNobel
New Insights into the Troubles of Aneuploidy
2012
Reversible Photocontrol of Biological Systems by the Incorporation of Molecular Photoswitches
2013 StandoutNobel
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
1987 Standout
Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells
2006 StandoutNobel
Highly specific and sensitive method for measuring nucleotide excision repair kinetics of ultraviolet photoproducts in human cells
2013 StandoutNobel
XY female mice resulting from a heritable mutation in the primary testis determining gene, Tdy
1990
Aneuploidy-Cancer Predisposition Syndromes: A New Link between the Mitotic Spindle Checkpoint and Cancer
2004
Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: Implications for X-Y interchange
1987
High incidence of XXY and XYY males among the offspring of female chimeras from embryonic stem cells.
1995 StandoutNobel
DNA Binding Activity of Recombinant SRY from Normal Males and XY Females
1992 Science
Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline
2010 StandoutNobel
The Leucine Zipper: A Hypothetical Structure Common to a New Class of DNA Binding Proteins
1988 StandoutScience
Malonyl CoA Control of Fatty Acid Oxidation in the Ischemic Heart
2002
Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency)
1987
Multiple pterygium syndrome
1980
The Ubiquitin-Proteasome Proteolytic Pathway: Destruction for the Sake of Construction
2002 StandoutNobel
Homoeobox gene Hox-1.5 expression in mouse embryos: earliest detection by in situ hybridization is during gastrulation
1987
Mitophagy confers resistance to siderophore-mediated killing by Pseudomonas aeruginosa
2015 StandoutNobel
XX true hermaphroditism in southern African blacks: an enigma of primary sexual differentiation.
1988
Maturation of Iron-Sulfur Proteins in Eukaryotes: Mechanisms, Connected Processes, and Diseases
2008
Chemical Glycoproteomics
2016 StandoutNobel
Normal and abnormal interchanges between the human X and Y chromosomes
1987
Works of John Tolmie being referenced
Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families
1996
Functional and Structural Studies of Wild Type SOX9 and Mutations Causing Campomelic Dysplasia
1999
Simpson—Golabi—Behmel syndrome: Disproportionate fetal overgrowth and elevated maternal serum alpha‐fetoprotein
1994
Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry
1989
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
2006
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B
2004
Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
2003
The Molecular Basis of Malonyl-CoA Decarboxylase Deficiency
1999
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
Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination
1990
Familial Syndromic Esophageal Atresia Maps to 2p23-p24
2000
Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome
2006
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation
2008
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies
2015
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation
2000
A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.
1998
Microcephaly: Genetic counselling and antenatal diagnosis after the birth of an affected child
1987
The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).
1995
Syndromes associate with trichotodystrophy
1994
Variable transfer of Y-specific sequences in XX males
1986