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Citing Papers
Membrane-tethered mucin-like polypeptides sterically inhibit binding and slow fusion kinetics of influenza A virus
2020 StandoutNobel
The mucin-selective protease StcE enables molecular and functional analysis of human cancer-associated mucins
2019 StandoutNobel
MiRP1 Forms IKr Potassium Channels with HERG and Is Associated with Cardiac Arrhythmia
1999 Standout
The Human Chitotriosidase Gene
1998
FGF signaling in skeletal development
1998
Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.
1996
Finishing the euchromatic sequence of the human genome
2004 StandoutNature
Lambdoid phages that simplify the recovery of in vitro recombinants
1977
Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome
1997
The epithelial mucin, MUC1, of milk, mammary gland and other tissues
1995
To err (meiotically) is human: the genesis of human aneuploidy
2001 Standout
Mutations of the TWIST gene in the Saethre-Chotzene syndrome
1997
A survey of expressed genes in Caenorhabditis elegans
1992
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
1993 StandoutNature
Non-disjunction of chromosome 18
1998
The Role of POU Domain Proteins in the Regulation of Mammalian Pituitary and Nervous System Development
1999
Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns
1994
Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis
2002
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2
1991
Respiratory Tract Mucin Genes and Mucin Glycoproteins in Health and Disease
2005
A genome-wide comparison of recent chimpanzee and human segmental duplications
2005 StandoutNatureNobel
A genetic model for colorectal tumorigenesis
1990 Standout
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
1991 Standout
Distant metastasis occurs late during the genetic evolution of pancreatic cancer
2010 StandoutNature
Susceptible chiasmate configurations of chromosome 21 predispose to non–disjunction in both maternal meiosis I and meiosis II
1996
12 Nondisjunction in the Human Male
1997
Degeneration of skeletal muscle, peripheral nerves, and the central nervous system in transgenic mice overexpressing wild-type prion proteins
1994 StandoutNobel
Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes
2001
FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease
2002 Standout
A genetic map of human chromosome 17p
1990
Developmental regulation of the growth plate
2003 StandoutNature
From Genotype to Phenotype: The Differential Expression of FGF, FGFR, and TGFβ Genes Characterizes Human Cranioskeletal Development and Reflects Clinical Presentation in FGFR Syndromes
2001
Epithelial Mucin Genes
1995
Phenotypic findings due to trisomy 7p15.3-pter including theTWIST locus
2001
Fibroblast Growth Factor Receptor‐2 Mutations in Craniosynostosisa
1996
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination
1998
Genomic Structure of Three Long QT Syndrome Genes:KVLQT1, HERG,andKCNE1
1998
Purification of component A of Rab geranylgeranyl transferase: Possible identity with the choroideremia gene product
1992 StandoutNobel
Human aneuploidy: Incidence, origin, and etiology
1996
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand
1998
Genetics of craniofacial development and malformation
2001
Neuroligins and neurexins link synaptic function to cognitive disease
2008 StandoutNatureNobel
CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM
1993 Nature
Genome architecture, rearrangements and genomic disorders
2002
Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans
1993
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping
2006
Chapter 13 Long‐Range Gene Control and Genetic Disease
2008
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM
1993 Nature
The Primary Immunodeficiencies
1995
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
1994
First-Meiotic-Division Nondisjunction in Human Oocytes
1997
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome
1993
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
1994
Class Switch Recombination and Hypermutation Require Activation-Induced Cytidine Deaminase (AID), a Potential RNA Editing Enzyme
2000 StandoutNobel
Spatial partitioning of the regulatory landscape of the X-inactivation centre
2012 StandoutNature
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
2003
The Tumor Necrosis Factor Ligand and Receptor Families
1996 StandoutNobel
Activity of the Caenorhabditis elegans UNC-86 POU transcription factor modulates olfactory sensitivity
2003 StandoutNobel
Detection of the c-myc oncogene product in colonic polyps and carcinomas
1986
Hierarchical Assembly of Model Cell Surfaces: Synthesis of Mucin Mimetic Polymers and Their Display on Supported Bilayers
2007 StandoutNobel
Evolution of the β-globin gene cluster in man and the primates
1981
Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping
1989 StandoutScience
Human Immunoglobulin Heavy Chain Genes Map to a Region of Translocations in Malignant B Lymphocytes
1982 Science
Nucleotide sequence analysis of the leader segments in a cloned copy of adenovirus 2 fiber mRNA
1979 StandoutNobel
Comparison of cloned rabbit and mouse β-globin genes showing strong evolutionary divergence of two homologous pairs of introns
1978 Nature
Phenotypic consequences of lung-specific inducible expression of FGF-3
2001 StandoutNobel
Isolation of a candidate gene for choroideremia.
1992
Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain
1998
DNA methylation and the regulation of globin gene expression
1983
Chapter 3 Fluorescent Detection of Nuclear RNA and DNA: Implications for Genome Organization
1991
Computer-simulation methods in human linkage analysis.
1989
A history of the human fetal globin gene duplication
1981 StandoutNobel
Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16.
1995
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.
1990
DNA sequence variants in the Gγ-, Aγ-, δ- and β-globin genes of man
1979
Transforming Growth Factor βs and Fibroblast Growth Factors and Their Receptors: Role in Sutural Biology and Craniosynostosis
1997
Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).
1989
A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster.
1983
Cloning and complete nucleotide sequence of mouse immunoglobulin γ1 chain gene
1979 StandoutNobel
Sequence organization of a cloned tDNA1met fragment from xenopus laevis
1978 StandoutNobel
Polymorphisms of a human variable heavy chain gene show linkage with constant heavy chain genes.
1984 StandoutNobel
A mouse α-globin-related pseudogene lacking intervening sequences
1980 StandoutNatureNobel
Localization of human immunoglobulin kappa light chain variable region genes to the short arm of chromosome 2 by in situ hybridization.
1982
Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).
1990
Craniosynostosis: genes and mechanisms
1997
Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.
1990
Prolonged and effective blockade of tumor necrosis factor activity through adenovirus-mediated gene transfer.
1994 StandoutNobel
Toward a physical map of the genome of the nematode Caenorhabditis elegans
1986 StandoutNobel
The William Allan Memorial Award address: Reverse genetics and beyond.
1984
Identification of a human transcription unit affected by the variant chromosomal translocations 2;8 and 8;22 of Burkitt lymphoma.
1989 StandoutNobel
Analysis of the β-δ-globin gene loci in normal and hb lepore DNA: Direct determination of gene linkage and intergene distance
1978
The genome of Caenorhabditis elegans.
1995 StandoutNobel
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
1996
Recombinant DNA: NIH Guidelines
1976 StandoutScienceNobel
Activation of a translocated c-myc gene: role of structural alterations in the upstream region.
1984 StandoutNobel
Multiple DNA fragment polymorphisms associated with immunoglobulin mu chain switch-like regions in man.
1983 StandoutNobel
Genetic Dissection of Complex Traits
1994 StandoutScience
Hypervariable ‘minisatellite’ regions in human DNA
1985 StandoutNature
γ-β-Thalassaemia studies showing that deletion of the γ- and δ-genes influences β-globin gene expression in man
1980 Nature
CpG-rich islands and the function of DNA methylation
1986 StandoutNature
Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.
1990
Cloning Human Fetal γ Globin and Mouse α-Type Globin DNA: Characterization and Partial Sequencing
1978 StandoutScienceNobel
The structure and evolution of the two nonallelic rat preproinsulin genes
1979 StandoutNobel
Molecular cloning and functional expression of a human cDNA encoding the antimutator enzyme 8-hydroxyguanine-DNA glycosylase
1997 StandoutNobel
The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans*
2000
Domains and the hinge region of an immunoglobulin heavy chain are encoded in separate DNA segments
1979 StandoutNatureNobel
Thiourea Reverses Cross-Links and Restores Biological Activity in DNA Treated with Dichlorodiaminoplatinum(II)
1979 StandoutScienceNobel
CD40 Ligand Gene Defects Responsible for X-Linked Hyper-IgM Syndrome
1993 Science
Scrapie and cellular PrP isoforms are encoded by the same chromosomal gene
1986 StandoutNobel
The silent carrier allele: β thalassemia without a mutation in the β-globin gene or its immediate flanking regions
1984 StandoutNobel
Terminal 22q Deletion Syndrome: A Newly Recognized Cause of Speech and Language Disability in the Autism Spectrum
2004
High-resolution structures of a chitinase complexed with natural product cyclopentapeptide inhibitors: Mimicry of carbohydrate substrate
2002 StandoutNobel
Unexpected relationships between four large deletions in the human β-globin gene cluster
1983 StandoutNobel
A human chromosome 8 region with abnormalities in B cell, HTLV-I+ T cell and c-myc amplified tumours.
1987
Defective Lymphoid Development in Mice Lacking Jak3
1995 StandoutScienceNobel
Unraveling Function in the TNF Ligand and Receptor Families
1994 StandoutScienceNobel
Nucleotide sequence divergence of mouse immunoglobulin gamma 1 and gamma 2b chain genes and the hypothesis of intervening sequence-mediated domain transfer.
1980 StandoutNobel
Works of S Malcolm being referenced
Spectrum of CraniosynostosisPhenotypes Associated with NovelMutations at the Fibroblast GrowthFactor Receptor 2 Locus
1996
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome
2000
A TWIST in development
1997
IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome
1997
Mapping of the x-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT
1992
Close linkage of random DNA fragments from Xq 21.3–22 to X-linked agammaglobulinaemia (XLA)
1987
Increased Parental Ages and Uniparental Disomy 15: A Paternal Age Effect?
1993
Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers
1989
Close linkage of PUM and SPTA within chromosome band 1q21
1988
Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13.
1987
Isolation and partial sequence of recombinant plasmids containing human α-, β- and γ-globin cDNA fragments
1978 Nature
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.
1993
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14
2001
A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene
1995
Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.
1990
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
1997
Nondisjunction of chromosome 15: origin and recombination
1993
Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter.
1994
Guidelines for Research Involving Recombinant DNA Molecules
1978
The c-myc Gene Paradox in Burkitt’s Lymphoma Chromosomal Translocation
1984
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome
1995
Genome Analysis. Volume 1. Genetic and Physical Mapping
1992
Chromosomal localization of a single copy gene by in situ hybridization ‐ human β globin genes on the short arm of chromosome 11
1981
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.
1994
Mapping of a locus for autosomal dominant Hemifacial Microsomia
2000
Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion
1987
Genome Analysis: a Practical Approach
1989
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
1996