Citation Impact
Citing Papers
Chromosome Abnormalities and Genetic Counseling
2011
Transcriptional Regulation by Nrf2
2017 Standout
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis
2013 Standout
Activating RNAs associate with Mediator to enhance chromatin architecture and transcription
2013 Nature
Erythropoietic protoporphyria
2009
lincRNAs: Genomics, Evolution, and Mechanisms
2013 Standout
Transcriptional Regulation and Its Misregulation in Disease
2013
Switch Enhancers Interpret TGF-β and Hippo Signaling to Control Cell Fate in Human Embryonic Stem Cells
2013 Standout
Identification of genes in toxicity pathways of trinucleotide-repeat RNA in C. elegans
2014 StandoutNobel
Control of the Embryonic Stem Cell State
2011
m6A RNA Modification Controls Cell Fate Transition in Mammalian Embryonic Stem Cells
2014 Standout
The multidimensional mechanisms of long noncoding RNA function
2017 Standout
TGFβ signalling in context
2012 Standout
The Mediator complex: a central integrator of transcription
2015
The Human Transcription Factors
2018 Standout
Porphyrias
2010 Standout
Liver transplantation for erythropoietic protoporphyria liver disease
2005
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
Super-Enhancers in the Control of Cell Identity and Disease
2013 Standout
Paralytic Ileus and Liver Failure—An Unusual Presentation of Advanced Erythropoietic Protoporphyria
2008
Ubiquitin-dependent regulation of COPII coat size and function
2012 StandoutNatureNobel
Exon-intron circular RNAs regulate transcription in the nucleus
2015 Standout
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
2015 Standout
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
2013 Standout
Guidance of regulatory T cell development by Satb1-dependent super-enhancer establishment
2016 StandoutNobel
Functional mapping and annotation of genetic associations with FUMA
2017 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
Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria
2005
CNV Concordance in 1,097 MZ Twin Pairs
2015
Health Supervision for Children With Down Syndrome
2011 Standout
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
2012
Topological domains in mammalian genomes identified by analysis of chromatin interactions
2012 StandoutNature
American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing
2013
Long Noncoding RNAs: Cellular Address Codes in Development and Disease
2013 Standout
Spatial partitioning of the regulatory landscape of the X-inactivation centre
2012 StandoutNature
Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease
2004
Master Transcription Factors and Mediator Establish Super-Enhancers at Key Cell Identity Genes
2013 Standout
Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma
2015 Standout
Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy
2009
Guidelines on the Use of Therapeutic Apheresis in Clinical Practice – Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Eighth Special Issue
2019 Standout
Mechanisms of Cell Protection by Heme Oxygenase-1
2010 Standout
Liver disease in erythropoietic protoporphyria: insights and implications for management
2007
Sequential Liver and Bone Marrow Transplantation for Treatment of Erythropoietic Protoporphyria
2006
Conversion of antigen-specific effector/memory T cells into Foxp3-expressing T reg cells by inhibition of CDK8/19
2019 StandoutNobel
Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells
2005
The ABC Transporter Abcg2/Bcrp: Role in Hypoxia Mediated Survival
2005
Lethal mitochondrial cardiomyopathy in a hypomorphic Med30 mouse mutant is ameliorated by ketogenic diet
2011 StandoutNobel
Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice
2006
Works of Hiba Risheg being referenced
Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria
2003
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
2007
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay
2011
UPD detection using homozygosity profiling with a SNP genotyping microarray
2011
Molecular Studies of Liver Disease in Erythropoietic Protoporphyria
2005
Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease.
2002