Standout Papers
Citation Impact
Citing Papers
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
2003 Standout
Pitx2promotes development of splanchnic mesoderm-derived branchiomeric muscle
2006
Cellular Inclusion Bodies of Mutant Huntingtin Exon 1 Obscure Small Fibrillar Aggregate Species
2012 StandoutNobel
Alpha-B Crystallin Gene (CRYAB) Mutation Causes Dominant Congenital Posterior Polar Cataract in Humans
2001
The interactions of genes, age, and environment in glaucoma pathogenesis
2015
Investigation of associations between Piezo1 mechanoreceptor gain-of-function variants and glaucoma-related phenotypes in humans and mice
2020 StandoutNobel
Acromegaly
2006 Standout
The Retinal Pigment Epithelium in Visual Function
2005 Standout
Disruption of insulin–like growth factor 2 imprinting in Beckwith–Wiedemann syndrome
1993
Pitx2, a Bicoid-Type Homeobox Gene, Is Involved in a Lefty-Signaling Pathway in Determination of Left-Right Asymmetry
1998
Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene () Essential for Maintenance of the Photoreceptor
1997
Pitx2 determines left–right asymmetry of internal organs in vertebrates
1998 Nature
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts
2002
Role for ELOVL3 and Fatty Acid Chain Length in Development of Hair and Skin Function
2004 StandoutNobel
Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome
2007 StandoutNobel
Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25
2000
Molecular genetics of Usher syndrome
1999
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
Cushing's syndrome
2015 Standout
Disorders of purine and pyrimidine metabolism
2005
Cellular Senescence in Cancer and Aging
2007 Standout
High-Resolution Profiling of Histone Methylations in the Human Genome
2007 Standout
Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis
1999 Nature
Exploring the molecular basis of Bardet-Biedl syndrome
2001
A Bivalent Chromatin Structure Marks Key Developmental Genes in Embryonic Stem Cells
2006 Standout
Akt2-mediated phosphorylation of Pitx2 controls Ccnd1 mRNA decay during muscle cell differentiation
2009
Constitutional Aneuploidy in the Normal Human Brain
2005
Gout
2009 Standout
Novel ENU-induced eye mutations in the mouse: models for human eye disease
2002
Crx, a Novel otx-like Homeobox Gene, Shows Photoreceptor-Specific Expression and Regulates Photoreceptor Differentiation
1997
A family of LIM domain-associated cofactors confer transcriptional synergism between LIM and Otx homeodomain proteins.
1997
Pitx2 promotes heart repair by activating the antioxidant response after cardiac injury
2016 Nature
Primary open-angle glaucoma
2004 Standout
The Transcription Factor Pitx2 Mediates Situs-Specific Morphogenesis in Response to Left-Right Asymmetric Signals
1998
PRDM16 controls a brown fat/skeletal muscle switch
2008 StandoutNature
Super-Enhancers in the Control of Cell Identity and Disease
2013 Standout
Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene
2000 StandoutNature
Cleft lip and palate
2009 Standout
Functional analysis of human mutations in homeodomain transcription factor PITX3
2007
The Mammalian Epigenome
2007 Standout
Sequential activation of transcription factors in lens induction
2000
Polygenic control of Caenorhabditis elegans fat storage
2006 StandoutNobel
Cig30 and Pitx3 Genes Are Arranged in a Partially Overlapping Tail-to-Tail Array Resulting in Complementary Transcripts
1999
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
1998
Retinitis pigmentosa
2006 Standout
Nuclear exclusion of Smad2 is a mechanism leading to loss of competence
2002 StandoutNobel
Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour
1994
The pan-Pituitary Activator of Transcription, Ptx1 (Pituitary Homeobox 1), Acts in Synergy with SF-1 and Pit1 and Is an Upstream Regulator of the Lim-Homeodomain Gene Lim3/Lhx3
1998
Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA 3 )
2000
Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma
2003
Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins Syndrome
1997
Cancer-epigenetics comes of age
1999 Standout
Active chromatin domains are defined by acetylation islands revealed by genome-wide mapping
2005
High-yield selection and extraction of two promoter-defined phenotypes of neural stem cells from the fetal human brain
2001 StandoutNobel
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
2001 StandoutNobel
Liver Retinol Transporter and Receptor for Serum Retinol-binding Protein (RBP4)
2012
Crystallin γB-I4F Mutant Protein Binds to α-Crystallin and Affects Lens Transparency
2005 StandoutNobel
Transcriptional control of precursor proliferation in the early phases of pituitary development
2004
Mechanisms for pituitary tumorigenesis: the plastic pituitary
2003
p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development
1999 StandoutNature
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
1997 StandoutNature
Protein Tyrosine Phosphatases in the Human Genome
2004 Standout
Ferroptosis: mechanisms, biology and role in disease
2021 Standout
Cushing's syndrome
2006 Standout
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q
2003
Mutations of the Forkhead/Winged-Helix Gene, FKHL7, in Patients with Axenfeld-Rieger Anomaly
1998
Pitx2 Participates in the Late Phase of the Pathway Controlling Left-Right Asymmetry
1998
Myocilin Glaucoma
2002
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population
2005
Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome
2007 Standout
AMPK Phosphorylation of Raptor Mediates a Metabolic Checkpoint
2008 Standout
Notch1 and Notch3 Instructively Restrict bFGF-Responsive Multipotent Neural Progenitor Cells to an Astroglial Fate
2001 StandoutNobel
Expression patterns of Brx1 (Rieg gene), Sonic hedgehog, Nkx2.2, Dlx1 and Arx during zona limitans intrathalamica and embryonic ventral lateral geniculate nuclear formation
1997
Combinatorial patterns of histone acetylations and methylations in the human genome
2008 Standout
Activity of the Caenorhabditis elegans UNC-86 POU transcription factor modulates olfactory sensitivity
2003 StandoutNobel
A catechol- O -methyltransferase that is essential for auditory function in mice and humans
2008 StandoutNobel
Structure of the STRA6 receptor for retinol uptake
2016 StandoutScienceNobel
Diverse Cytopathologies in Mitochondrial Disease Are Caused by AMP-activated Protein Kinase Signaling
2007
Velvet, a Dominant Egfr Mutation That Causes Wavy Hair and Defective Eyelid Development in Mice
2004 StandoutNobel
Genetics of glaucoma
2017
Molecular Basis of Combined Pituitary Hormone Deficiencies
2002
Gene Regulatory Networks and the Evolution of Animal Body Plans
2006 StandoutScience
Regulation of touch receptor differentiation by the Caenorhabditis elegans mec-3 and unc-86 genes
1998 StandoutNobel
Mouse Pitx2 deficiency leads to anomalies of the ventral body wall, heart, extra- and periocular mesoderm and right pulmonary isomerism
1999
Nurr1, an orphan nuclear receptor, is a transcriptional activator of endogenous tyrosine hydroxylase in neural progenitor cells derived from the adult brain
1999
Metabolic control of cell death
2014 Science
Coordinated Transcriptional Regulation of theunc-25Glutamic Acid Decarboxylase and theunc-47GABA Vesicular Transporter by theCaenorhabditis elegansUNC-30 Homeodomain Protein
1999 StandoutNobel
Genetics of Atrial Fibrillation
2010
Signalling interactions during facial development
1998
Functional tests of enhancer conservation between distantly related species
2003 StandoutNobel
Fiber Types in Mammalian Skeletal Muscles
2011 Standout
TheC. elegansPOU-domain transcription factor UNC-86 regulates thetph-1tryptophan hydroxylase gene and neurite outgrowth in specific serotonergic neurons
2002 StandoutNobel
Conserved Function ofCaenorhabditis elegansUNC-30 and Mouse Pitx2 in Controlling GABAergic Neuron Differentiation
2001
The Usher syndromes
1999
Dosage requirement of Pitx2 for development of multiple organs
1999
The Molecular Pathogenesis of Corticotroph Tumors
1999
2014 AHA/ACC/HRS Guideline for the Management of Patients With Atrial Fibrillation
2014 Standout
Cataracts
2017 Standout
Reactive Oxygen Species (ROS)-Based Nanomedicine
2019 Standout
Phenotypic spectrum ofSTRA6mutations: from Matthew-Wood syndrome to non-lethal anophthalmia
2009
Genetics of Congenital Cataract
2016
Defective myosin VIIA gene responsible for Usher syndrome type IB
1995 Nature
Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis
2006 StandoutNobel
Works of Pierre Bitoun being referenced
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew‐Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance
2007
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
1996 Standout
Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy
2009
Genetic Heterogeneity of Usher Syndrome Type 1 in French Families
1994
AICA-Ribosiduria: A Novel, Neurologically Devastating Inborn Error of Purine Biosynthesis Caused by Mutation of ATIC
2004
Somatic Mosaicism for Partial Paternal Isodisomy in Wiedemann-Beckwith Syndrome: A Post-Fertilization Event
1993
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD
1998
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes
1999
Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation.
1994
Incontinentia pigmenti (type 1) and X;5 translocation.
1992