Citation Impact
Citing Papers
Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
2005 Standout
β4 Integrin Is a Transforming Molecule that Unleashes Met Tyrosine Kinase Tumorigenesis
2005
Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2
2003 StandoutScience
Reversal of Neurological Defects in a Mouse Model of Rett Syndrome
2007 StandoutScience
A "Silent" Polymorphism in the MDR 1 Gene Changes Substrate Specificity
2006 StandoutScience
In vivo gene editing in dystrophic mouse muscle and muscle stem cells
2015 Science
Hippo signaling disruption and Akt stimulation of ovarian follicles for infertility treatment
2013 Standout
Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet
2009 Standout
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
The promise and challenge of therapeutic genome editing
2020 StandoutNatureNobel
Heparin-Protein Interactions
2002 Standout
Structure and mutational analysis of Rab GDP-dissociation inhibitor
1996 Nature
Translocations of the RARα gene in acute promyelocytic leukemia
2001
A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro
2005
Cooperation between mDia1 and ROCK in Rho-induced actin reorganization
1999
Retinoic acid receptors: From molecular mechanisms to cancer therapy
2014
Thyroid cancer
2016 Standout
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
2004
The Stem Region of the Sulfotransferase GlcNAc6ST-1 Is a Determinant of Substrate Specificity
2004 StandoutNobel
Integrins in cancer: biological implications and therapeutic opportunities
2009 Standout
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size
2016
SOCS1 methylation in patients with newly diagnosed acute myeloid leukemia
2003
Identification and characterization of a spinal muscular atrophy-determining gene
1995 Standout
Promoter Sequence, Expression, and Fine Chromosomal Mapping of the Human Gene (MLP) Encoding the MARCKS-like Protein: Identification of Neighboring and Linked Polymorphic Loci forMLPandMACSand Use in the Evaluation of Human Neural Tube Defects
1998
Applying genomic and transcriptomic advances to mitochondrial medicine
2021
Epilepsy genetics — past, present, and future
2011
Focal adhesion kinase: in command and control of cell motility
2005 Standout
Hallmarks of aging: An expanding universe
2023 Standout
The FHIT Gene, Spanning the Chromosome 3p14.2 Fragile Site and Renal Carcinoma–Associated t(3;8) Breakpoint, Is Abnormal in Digestive Tract Cancers
1996 Standout
The REDCap consortium: Building an international community of software platform partners
2019 Standout
A ceRNA Hypothesis: The Rosetta Stone of a Hidden RNA Language?
2011 Standout
Neural-Tube Defects
1999 Standout
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
2011 Standout
Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
Efficacy of systemic morpholino exon‐skipping in duchenne dystrophy dogs
2009
Mitochondria: In Sickness and in Health
2012 Standout
Rapid Single-Step Induction of Functional Neurons from Human Pluripotent Stem Cells
2013 StandoutNobel
Inherited Predisposition to Acute Myeloid Leukemia
2014
ROCKs: multifunctional kinases in cell behaviour
2003 Standout
Sulfation of N-Acetylglucosamine by Chondroitin 6-Sulfotransferase 2 (GST-5)
2000 StandoutNobel
Dispelling myths about rare disease registry system development
2013
Exon‐skipped dystrophins for treatment of Duchenne muscular dystrophy: Mass spectrometry mapping of most exons and cooperative domain designs based on single molecule mechanics
2010
X-inactivation profile reveals extensive variability in X-linked gene expression in females
2005 StandoutNature
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
Daily Treatment with SMTC1100, a Novel Small Molecule Utrophin Upregulator, Dramatically Reduces the Dystrophic Symptoms in the mdx Mouse
2011
Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals
2003 Standout
Characterization and chromosomal assignment of yeast artificial chromosomes containing human 3p13-p21-specific sequence tagged sites
1995
The clinical significance of cytogenetic abnormalities in acute myeloid leukaemia
2001
Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.
1994
The AAV-mediated and RNA-guided CRISPR/Cas9 system for gene therapy of DMD and BMD
2017
Applications of CRISPR technologies in research and beyond
2016 StandoutNobel
The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate
1998
Rho and Rac Take Center Stage
2004 Standout
Golgi Localization of Carbohydrate Sulfotransferases Is a Determinant of L-selectin Ligand Biosynthesis
2003 StandoutNobel
The STATs of cancer — new molecular targets come of age
2004 Standout
Transmembrane crosstalk between the extracellular matrix and the cytoskeleton
2001 Standout
Evolutionary Features of the 4-Mb Xq21.3 XY Homology Region Revealed by a Map at 60-kb Resolution
1997
Mice with Truncated MeCP2 Recapitulate Many Rett Syndrome Features and Display Hyperacetylation of Histone H3
2002
CRISPR-Based Technologies for the Manipulation of Eukaryotic Genomes
2016 Standout
A coding-independent function of gene and pseudogene mRNAs regulates tumour biology
2010 StandoutNature
Cornerstones of CRISPR–Cas in drug discovery and therapy
2016 StandoutNobel
Efficient genome editing in the mouse brain by local delivery of engineered Cas9 ribonucleoprotein complexes
2017 StandoutNobel
A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness
1996
The Theory of APL Revisited
2007
The Survivin-like C. elegans BIR-1 Protein Acts with the Aurora-like Kinase AIR-2 to Affect Chromosomes and the Spindle Midzone
2000 StandoutNobel
Ohtahara syndrome with emphasis on recent genetic discovery
2011
Comparative Analysis of Antisense Oligonucleotide Sequences for Targeted Skipping of Exon 51 During Dystrophin Pre-mRNA Splicing in Human Muscle
2007
American Thyroid Association Guidelines for Management of Patients with Anaplastic Thyroid Cancer
2012
Small GTP-Binding Proteins
2001 Standout
In Vivo Imaging of Membrane-Associated Glycans in Developing Zebrafish
2008 StandoutScienceNobel
Structure of the STRA6 receptor for retinol uptake
2016 StandoutScienceNobel
Acute Myeloid Leukemia
2015 Standout
A first-generation X-inactivation profile of the human X chromosome
1999
mDia mediates Rho-regulated formation and orientation of stable microtubules
2001
The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes
2009 Standout
Functional Coherence of the Human Y Chromosome
1997 StandoutScience
cyk-1: a C. elegans FH gene required for a late step in embryonic cytokinesis
1998
Oxidative Stress: An Essential Factor in the Pathogenesis of Gastrointestinal Mucosal Diseases
2014 Standout
About Sleep's Role in Memory
2013 Standout
Management of acute promyelocytic leukemia: recommendations from an expert panel on behalf of the European LeukemiaNet
2008
The DisGeNET knowledge platform for disease genomics: 2019 update
2019 Standout
MARCKS deficiency in mice leads to abnormal brain development and perinatal death.
1995
Functions of Cell Surface Heparan Sulfate Proteoglycans
1999 Standout
A DNA insulator prevents repression of a targeted X-linked transgene but not its random or imprinted X inactivation
2006 StandoutNobel
Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review
2006
LIN-5 Is a Novel Component of the Spindle Apparatus Required for Chromosome Segregation and Cleavage Plane Specification in Caenorhabditis elegans
2000 StandoutNobel
Works of Christophe Philippe being referenced
BRAF, p53 and SOX2 in anaplastic thyroid carcinoma: evidence for multistep carcinogenesis
2011
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy
2006
Cloning and characterization of the human choroideremia gene
1994
A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Sterility
1998
The three stages of epilepsy in patients with CDKL5 mutations
2008
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients
2001
Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses
1997
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions
2008
Chromosomal mapping of the human (MACS) and mouse (Macs) genes encoding the MARCKS protein
1992
Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses
1999
The Signal Transducer and Activator of Transcription STAT5b Gene Is a New Partner of Retinoic Acid Receptor in Acute Promyelocytic-Like Leukaemia
1999
Physical Mapping of DNA Markers in the q13-q22 Region of the Human X Chromosome
1993
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre
2004
A High-Resolution Interval Map of the q21 Region of the Human X Chromosome
1995
Key clinical features to identify girls with CDKL5 mutations
2008
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
2012
Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations.
1991
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
2019