Citation Impact
Citing Papers
A Decade of Molecular Studies of Fragile X Syndrome
2002
A Gene Network Regulating Lysosomal Biogenesis and Function
2009 StandoutScience
Reversal of Neurological Defects in a Mouse Model of Rett Syndrome
2007 StandoutScience
Mutation Analysis of the PVRL1 Gene in Caucasians with Nonsyndromic Cleft Lip/Palate
2009
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein
1993
The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2.
1995
Genome-scale DNA methylation maps of pluripotent and differentiated cells
2008 StandoutNature
Epigenetic inheritance based on DNA methylation
1993
Structure of a mammalian ryanodine receptor
2014 StandoutNatureNobel
Structural and functional insights into the B30.2/SPRY domain
2006
Functions of DNA methylation: islands, start sites, gene bodies and beyond
2012 Standout
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
2000 Standout
Triplet Repeat Expansion Mutations: The Example of Fragile X Syndrome
1995
Epigenetic gene silencing in cancer – a mechanism for early oncogenic pathway addiction?
2006
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
1993 Standout
Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus
1990
Role of Transforming Growth Factor β in Human Disease
2000 Standout
Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma
2005 StandoutNature
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
1993 StandoutNature
Mouse Models for Four Types of Waardenburg Syndrome
2003
The nonmotile ciliopathies
2009
Cancer Metastasis: Building a Framework
2006 Standout
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate
2008
A Mutant Drosophila Homolog of Mammalian Clock Disrupts Circadian Rhythms and Transcription of period and timeless
1998 StandoutNobel
Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles
2010
Purification, sequence, and cellular localization of a novel chromosomal protein that binds to Methylated DNA
1992
Triplet repeat mutations in human disease
1992 Science
Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning
2008 StandoutNature
The Epigenomics of Cancer
2007 Standout
Trinucleotide repeats associated with human disease
1997
Cilia Proteins Control Cerebellar Morphogenesis by Promoting Expansion of the Granule Progenitor Pool
2007
Limb malformations and the human HOX genes
2002
Molecular and Genetic Properties of Tumors Associated with Local Immune Cytolytic Activity
2015 Standout
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
2011 Standout
Decoding ALS: from genes to mechanism
2016 StandoutNature
Association of MSX1 and TGFB3 with Nonsyndromic Clefting in Humans
1998
Mechanically Activated Ion Channels
2015 StandoutNobel
Cleft lip and palate: understanding genetic and environmental influences
2011 Standout
Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate
2010
The Novel Zinc Finger-Containing Transcription Factor Osterix Is Required for Osteoblast Differentiation and Bone Formation
2002 Standout
The C. elegans genome sequencing project: a beginning
1992 StandoutNatureNobel
Comprehensive Analysis of mRNA Methylation Reveals Enrichment in 3′ UTRs and near Stop Codons
2012 Standout
Repeat expansion disease: progress and puzzles in disease pathogenesis
2010
Language trees support the express-train sequence of Austronesian expansion
2000 Nature
Gene Silencing in Cancer in Association with Promoter Hypermethylation
2003 Standout
The fission yeast gene pmt1+encodes a DNA methyltransferase homologue
1995 StandoutNobel
Gene/environment causes of cleft lip and/or palate
2002
Molecular cloning and analysis of the fragile X region in man
1991
Highly Integrated Single-Base Resolution Maps of the Epigenome in Arabidopsis
2008 Standout
Genetics of ventral forebrain development and holoprosencephaly
2000
Neural Science: A Century of Progress and the Mysteries that Remain
2000 StandoutNobel
Cross-Intron Bridging Interactions in the Yeast Commitment Complex Are Conserved in Mammals
1997 StandoutNobel
Trinucleotide repeats and genome variation
1993
A point mutation in the FMR-1 gene associated with fragile X mental retardation
1993
Discovering Motifs in Ranked Lists of DNA Sequences
2007
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
1998 StandoutNature
TGFβ Signaling in Growth Control, Cancer, and Heritable Disorders
2000 Standout
Breakpoints around the HOXD cluster result in various limb malformations
2005
Reconstructing Indian population history
2009 StandoutNature
Absence of expression of the FMR-1 gene in fragile X syndrome
1991
Variation in IRF6 contributes to nonsyndromic cleft lip and palate
2005
The primary cilium: a signalling centre during vertebrate development
2010 Standout
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification
2005
Hypermutability and mismatch repair deficiency in RER+ tumor cells
1993 StandoutNobel
Language-tree divergence times support the Anatolian theory of Indo-European origin
2003 StandoutNature
The Ciliopathies: An Emerging Class of Human Genetic Disorders
2006
Fragile-X syndrome: unique genetics of the heritable unstable element.
1992
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1991 Standout
Melanocytes and theMicrophthalmiaTranscription Factor Network
2004
Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function
2009 StandoutNobel
Alterations in DNA Methylation: A Fundamental Aspect of Neoplasia
1997 Standout
Decrease in topoisomerase I is responsible for activation-induced cytidine deaminase (AID)-dependent somatic hypermutation
2011 StandoutNobel
Deletion of CASK in mice is lethal and impairs synaptic function
2007 StandoutNobel
Reconstructing the DNA Methylation Maps of the Neandertal and the Denisovan
2014 StandoutScienceNobel
Bone Development
2000
Excavating Neandertal and Denisovan DNA from the genomes of Melanesian individuals
2016 StandoutScienceNobel
Language Phylogenies Reveal Expansion Pulses and Pauses in Pacific Settlement
2009 Science
Mapping the Origins and Expansion of the Indo-European Language Family
2012 StandoutScience
Making sense of cilia in disease: The human ciliopathies
2009
Comparative sequence analysis of the human and pufferfish Huntington's disease genes
1995 StandoutNobel
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
1993 Standout
Neural Science
2000 StandoutNobel
Mitochondrial DNA analysis reveals diverse histories of tribal populations from India
2003
Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands.
1996 Standout
Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole–cilium interface and facilitates proper cilium formation and function
2014 StandoutNobel
The Role of DNA Methylation in Mammalian Epigenetics
2001 StandoutScience
Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
1991 Science
Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence P(CCG) n
1991 Science
Triplet Repeat Mutations in Human Disease
1992 Science
A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands.
1992 Standout
Conserved Structures and Diversity of Functions of RNA-Binding Proteins
1994 StandoutScience
Polycystic Kidney Disease
2008
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Works of Robin Winter being referenced
Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome
1991
Identification of the Gene for Oral-Facial-Digital Type I Syndrome
2001
Previously apparently undescribed syndrome: Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation
1995
The mutational spectrum in Waardenburg syndrome
1995
Clinical and genetic heterogeneity in Meckel syndrome
1997
X‐linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum
2003
Human–Mouse Gene Searcher: a tool to assist discovery of malformation-associated genes by using phenotype databases
2004
Deletions in HOXD13 Segregate with an Identical, Novel Foot Malformation in Two Unrelated Families
1998
Holoprosencephaly — An overview and atlas of cases
1991
Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families.
1995
Genetic prediction in X‐linked agammaglobulinaemia
1988