Citation Impact
Citing Papers
Tissue-Specific Thyroid Hormone Deprivation and Excess in Monocarboxylate Transporter (Mct) 8-Deficient Mice
2006
Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8
2007
Phospholipid methylation controls Atg32‐mediated mitophagy and Atg8 recycling
2015 StandoutNobel
Activating RNAs associate with Mediator to enhance chromatin architecture and transcription
2013 Nature
lincRNAs: Genomics, Evolution, and Mechanisms
2013 Standout
Microcephaly Syndromes
2007
Transcriptional Regulation and Its Misregulation in Disease
2013
Genes responsible for human hereditary deafness: symphony of a thousand
1996
Mouse models to study inner ear development and hereditary hearing loss
2007
Identification of genes in toxicity pathways of trinucleotide-repeat RNA in C. elegans
2014 StandoutNobel
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
1996 Standout
Control of the Embryonic Stem Cell State
2011
TGFβ signalling in context
2012 Standout
PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nε-dimethyl lysine demethylase
2009 StandoutNobel
The Mediator complex: a central integrator of transcription
2015
Hallmarks of aging: An expanding universe
2023 Standout
Mitochondrial Dysfunction in C. elegans Activates Mitochondrial Relocalization and Nuclear Hormone Receptor-Dependent Detoxification Genes
2019 StandoutNobel
Activation and regulation of the inflammasomes
2013 Standout
A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
2008 Standout
Multigenic control of thyroid hormone functions in the nervous system
2008
The Human Transcription Factors
2018 Standout
The role of the Rho GTPases in neuronal development
2005
Taking it to the max: The genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology
2004
Mitochondrial fusion and fission in cell life and death
2010 Standout
Predicting the sequence specificities of DNA- and RNA-binding proteins by deep learning
2015 Standout
Mediator and cohesin connect gene expression and chromatin architecture
2010 Nature
Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination
2007
Mitochondria: In Sickness and in Health
2012 Standout
Super-Enhancers in the Control of Cell Identity and Disease
2013 Standout
Molecular Mechanisms of Depression: Perspectives on New Treatment Strategies
2013 Standout
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factor
1994
Ubiquitin-dependent regulation of COPII coat size and function
2012 StandoutNatureNobel
Mammalian Rho GTPases: new insights into their functions from in vivo studies
2008 Standout
Rho GTPases and signaling networks
1997 Standout
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
1997
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
1997 Standout
The preprotein translocase of the mitochondrial inner membrane: function and evolution
1999
Metabolic control through the PGC-1 family of transcription coactivators
2005 Standout
Strategies in the design of nanoparticles for therapeutic applications
2010 Standout
The role of Rho GTPases in disease development
2002
Guidance of regulatory T cell development by Satb1-dependent super-enhancer establishment
2016 StandoutNobel
Spherical nanosized focal spot unravels the interior of cells
2008 StandoutNobel
Mitochondrial drug delivery systems for macromolecule and their therapeutic application to mitochondrial diseases
2008
Endometriosis
2010 Standout
Macrophages as regulators of tumour immunity and immunotherapy
2019 Standout
Unique features of long non-coding RNA biogenesis and function
2015 Standout
Genome-Scale Identification of SARS-CoV-2 and Pan-coronavirus Host Factor Networks
2020 StandoutNobel
Folding Kinetics and Structure of OEP16
2004 StandoutNobel
Zika Virus and Birth Defects — Reviewing the Evidence for Causality
2016 Standout
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
1997 StandoutNature
Neuronal degeneration and mitochondrial dysfunction
2003
A Fluorescent Two-hybrid Assay for Direct Visualization of Protein Interactions in Living Cells
2008
Novel insights into thyroid hormones from the study of common genetic variation
2009
Topological domains in mammalian genomes identified by analysis of chromatin interactions
2012 StandoutNature
Long Noncoding RNAs: Cellular Address Codes in Development and Disease
2013 Standout
The amyloid state and its association with protein misfolding diseases
2014 Standout
Spatial partitioning of the regulatory landscape of the X-inactivation centre
2012 StandoutNature
Neurosensory mechanotransduction
2008 StandoutNobel
Neurovascular pathways to neurodegeneration in Alzheimer's disease and other disorders
2011 Standout
Master Transcription Factors and Mediator Establish Super-Enhancers at Key Cell Identity Genes
2013 Standout
A century of mitochondrial research: achievements and perspectives
2001
Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy
2009
The Nuclear Receptor Corepressor (NCoR) Controls Thyroid Hormone Sensitivity and the Set Point of the Hypothalamic-Pituitary-Thyroid Axis
2011
Cellular and Molecular Basis of Deiodinase-Regulated Thyroid Hormone Signaling1
2008
Synthesis and Function of 3-Phosphorylated Inositol Lipids
2001 Standout
Nanoscale distribution of mitochondrial import receptor Tom20 is adjusted to cellular conditions and exhibits an inner-cellular gradient
2011 StandoutNobel
Endocrine-Disrupting Chemicals: An Endocrine Society Scientific Statement
2009 Standout
Molecular Pathology of Laminopathies
2021
Monocarboxylate Transporters: Therapeutic Targets and Prognostic Factors in Disease
2016
A Thyroid Hormone Analog with Reduced Dependence on the Monocarboxylate Transporter 8 for Tissue Transport
2009
In Vitro Reconstitution and Biophysical Characterization of OEP16, an Outer Envelope Pore Protein of Pea Chloroplasts
2000 StandoutNobel
Thyroid Hormone Regulation of Metabolism
2014 Standout
MCT8: From gene to disease and therapeutic approach
2011
Hormones and Endocrine-Disrupting Chemicals: Low-Dose Effects and Nonmonotonic Dose Responses
2012 Standout
Translocation of Proteins into Mitochondria
2007
Different causes of Reduced Sensitivity to Thyroid Hormone: Diagnosis and Clinical management
2013
Molecular Genetics of Hearing Loss
2001
Pathophysiological Importance of Thyroid Hormone Transporters
2009
Ca2+Sensitivity of Smooth Muscle and Nonmuscle Myosin II: Modulated by G Proteins, Kinases, and Myosin Phosphatase
2003 Standout
Minireview: Thyroid Hormone Transporters: The Knowns and the Unknowns
2010
Lethal mitochondrial cardiomyopathy in a hypomorphic Med30 mouse mutant is ameliorated by ketogenic diet
2011 StandoutNobel
Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency
2012
Spatial and temporal dynamics of budding yeast mitochondria lacking the division component Fis1p
2003 StandoutNobel
Neuronal degeneration and mitochondrial dysfunction
2003
Nanobodies: Natural Single-Domain Antibodies
2013 Standout
SMART, a simple modular architecture research tool: Identification of signaling domains
1998 Standout
Genetics of Sensory Mechanotransduction
2002 StandoutNobel
Works of Melanie May being referenced
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
2007
Aarskog‐Scott syndrome: Confirmation of linkage to the pericentromeric region of the X chromosome
1994
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity
2020
Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene
2005
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome
2000
Non‐syndromic X‐linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene
2002
Renpenning Syndrome Maps to Xp11
1998
A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness
1996
Linkage analysis in a family with the Opitz GBBB syndrome refines the location of the gene in Xp22 to a 4 cM region.
1997
A new X‐linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13
2003
X-Linked MCT8 Gene Mutations: Characterization of the Pediatric Neurologic Phenotype
2005
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
1995