Citation Impact
Citing Papers
Activation and Function of the MAPKs and Their Substrates, the MAPK-Activated Protein Kinases
2011 Standout
Phenotypic annotation of the mouse X chromosome
2010
Distinct fibroblast lineages determine dermal architecture in skin development and repair
2013 StandoutNature
Bone Morphogenetic Protein (BMP) signaling in development and human diseases
2014 Standout
Sox2-positive dermal papilla cells specify hair follicle type in mammalian epidermis
2009
Single Nucleotide Polymorphism in the Aetiology of Caries: Systematic Literature Review
2017 Standout
Sox9 Modulates Proliferation and Expression of Osteogenic Markers of Adipose-Derived Stem Cells (ASC)
2013 Standout
A non‐ancestral RPGR missense mutation in families with either recessive or semi‐dominant X‐linked retinitis pigmentosa
2007
Stem Cell Therapies in Clinical Trials: Progress and Challenges
2015 Standout
The molecular basis of human retinal and vitreoretinal diseases
2010 Standout
Hippocampal development and neural stem cell maintenance require Sox2-dependent regulation of Shh
2009
Histone methylation: a dynamic mark in health, disease and inheritance
2012 Standout
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency
2010
Activation and regulation of the inflammasomes
2013 Standout
Structure and function of long noncoding RNAs in epigenetic regulation
2013 Standout
An NLRP7-Containing Inflammasome Mediates Recognition of Microbial Lipopeptides in Human Macrophages
2012
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia
2007 StandoutNobel
Developmental eye disorders
2005
Polycomb group protein-mediated repression of transcription
2010
Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies
2010
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
2006
SOX2 is a dose-dependent regulator of retinal neural progenitor competence
2006 Standout
STRA6 is critical for cellular vitamin A uptake and homeostasis
2014
Super-Enhancers in the Control of Cell Identity and Disease
2013 Standout
WNT signaling in bone homeostasis and disease: from human mutations to treatments
2013 Standout
Cleft lip and palate: understanding genetic and environmental influences
2011 Standout
Control of cell fate and differentiation by Sry-related high-mobility-group box (Sox) transcription factors
2007
Long non-coding RNAs: new players in cell differentiation and development
2013 Standout
Eye Development and Retinogenesis
2012
Eye Development
2010
The BMP Ligand Gdf6 Prevents Differentiation of Coronal Suture Mesenchyme in Early Cranial Development
2012
Adult Neurogenesis in the Mammalian Brain: Significant Answers and Significant Questions
2011 Standout
The 2020 WHO Classification of Soft Tissue Tumours: news and perspectives
2020 Standout
Concurrent deletion of BMP4 and OTX2 genes, two master genes in ophthalmogenesis
2012
The hallmarks of cancer
2012 Standout
Complex architecture and regulated expression of the Sox2ot locus during vertebrate development
2009
Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings
1996
MicroRNAs and developmental timing
2011 StandoutNobel
Structure of a BCOR Corepressor Peptide in Complex with the BCL6 BTB Domain Dimer
2008
THERAPY OF ENDOCRINE DISEASE: Antithyroid drug use in early pregnancy and birth defects: time windows of relative safety and high risk?
2014
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies
2013
Genomic imprinting: parental influence on the genome
2001 Standout
Growth effects of uniparental disomies and the conflict theory of genomic imprinting
1997
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
2013 Standout
Histone and DNA Modifications in Mental Retardation
2010
2016 American Thyroid Association Guidelines for Diagnosis and Management of Hyperthyroidism and Other Causes of Thyrotoxicosis
2016 Standout
2017 Guidelines of the American Thyroid Association for the Diagnosis and Management of Thyroid Disease During Pregnancy and the Postpartum
2017 Standout
Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm
2007
The Fibroblast Growth Factor signaling pathway
2015 Standout
Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.
1996 StandoutNobel
Structure of the STRA6 receptor for retinol uptake
2016 StandoutScienceNobel
The NLRP3 Inflammasome: An Overview of Mechanisms of Activation and Regulation
2019 Standout
Follicular Helper CD4 T Cells (TFH)
2011 Standout
Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13–q23
1993
Genome-wide Association Studies of Pit-and-Fissure- and Smooth-surface Caries in Permanent Dentition
2013
Impaired generation of mature neurons by neural stem cells from hypomorphic Sox2 mutants
2008
PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
1996 StandoutScience
Segregation of a familial balanced (12;10) insertion resulting in dup(10)(q21.2q22.1) and del(10)(q21.2q22.1) in first cousins
1997 StandoutNobel
Lanthanum Chloride Inhibits LPS Mediated Expressions of Pro-Inflammatory Cytokines and Adhesion Molecules in HUVECs: Involvement of NF-κB-Jmjd3 Signaling
2017 Standout
Organogenesis in a dish: Modeling development and disease using organoid technologies
2014 StandoutScience
BCOR-CCNB3 Fusion Positive Sarcomas
2017
Anisomastia Associated with Interstitial Duplication of Chromosome 16, Mental Retardation, Obesity, Dysmorphic Facies, and Digital Anomalies: Molecular Mapping of a New Syndrome by Fluorescent in Situ Hybridization and Microsatellites to 16q13 (D16S419-D16S503)*
2000
Osteopathia striata with cranial sclerosis owing to WTX gene defect
2009
Works of Adele Schneider being referenced
Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies
2010
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
2011
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR
2004
SOX2 anophthalmia syndrome
2005
Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16
1996
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
2006
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm
2013
Role ofSOX2Mutations in Human Hippocampal Malformations and Epilepsy
2006
Grade 1 microtia, wide anterior fontanel and novel type tracheo‐esophageal fistula in methimazole embryopathy
2011
Interstitial deletion of 4(q21q25) in a liveborn male
1991
Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: An X-linked disorder?
1997
NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage
2011
Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome
2006