Citation Impact
Citing Papers
Characterizing and explaining the impact of disease-associated mutations in proteins without known structures or structural homologs
2022 StandoutNobel
Phosphorylation of Dishevelled by Protein Kinase RIPK4 Regulates Wnt Signaling
2013 Science
A Gene Network Regulating Lysosomal Biogenesis and Function
2009 StandoutScience
Human Genome Sequencing in Health and Disease
2011
The Ensembl Variant Effect Predictor
2016 Standout
Whole-genome resequencing reveals loci under selection during chicken domestication
2010 StandoutNature
Human disease locus discovery and mapping to molecular pathways through phylogenetic profiling
2013 StandoutNobel
The molecular hallmarks of epigenetic control
2016 Standout
The RNA Binding Protein Quaking Regulates Formation of circRNAs
2015 Standout
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs
2016
Regulation of microRNA function in animals
2018 Standout
Osteoporosis
2019 Standout
Generation of Human Melanocytes from Induced Pluripotent Stem Cells
2011 StandoutNobel
Molecular and Clinical Evidence for anARMC5Tumor Syndrome: Concurrent Inactivating Germline and Somatic Mutations Are Associated With Both Primary Macronodular Adrenal Hyperplasia and Meningioma
2014
Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma
2005 StandoutNature
Melanin Pigmentation in Mammalian Skin and Its Hormonal Regulation
2004 Standout
Efficient mapping of mendelian traits in dogs through genome-wide association
2007
Epigenetic modulators, modifiers and mediators in cancer aetiology and progression
2016
The molecular basis of human retinal and vitreoretinal diseases
2010 Standout
The role of genes domesticated from LTR retrotransposons and retroviruses in mammals
2012
Cushing's syndrome
2015 Standout
Macrophages in immunoregulation and therapeutics
2023 Standout
Retinitis Pigmentosa: Genes and Disease Mechanisms
2011 Standout
The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members
2011
Macrophage phenotypes in tissue repair and the foreign body response: Implications for biomaterial-based regenerative medicine strategies
2021
Transcriptional Regulation in Melanoma
2009
Metazoan MicroRNAs
2018 Standout
MITF: master regulator of melanocyte development and melanoma oncogene
2006
Pax3 Down-regulation and Shut-off of Melanogenesis in Melanoma B16/F10.9 by Interleukin-6 Receptor Signaling
2002
MiR-211 is essential for adult cone photoreceptor maintenance and visual function
2017
Avelumab in patients with chemotherapy-refractory metastatic Merkel cell carcinoma: a multicentre, single-group, open-label, phase 2 trial
2016 Standout
“Transcription physiology” of pigment formation in melanocytes: central role of MITF
2010
Diagnosis and treatment of Merkel Cell Carcinoma. European consensus-based interdisciplinary guideline
2015
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
2013
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants
2021
Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
2019
Cystine transporter SLC7A11/xCT in cancer: ferroptosis, nutrient dependency, and cancer therapy
2020 Standout
Wnt/β-Catenin Signaling, Disease, and Emerging Therapeutic Modalities
2017 Standout
Disease-targeted sequencing: a cornerstone in the clinic
2013
Imbalanced Host Response to SARS-CoV-2 Drives Development of COVID-19
2020 Standout
MECHANISMS IN ENDOCRINOLOGY: Genetics of human bone formation
2017
Ionizable Lipid Nanoparticles for In Vivo mRNA Delivery to the Placenta during Pregnancy
2023 StandoutNobel
Melanocytes and theMicrophthalmiaTranscription Factor Network
2004
Lipid Nanoparticles Delivering Constitutively Active STING mRNA to Stimulate Antitumor Immunity
2022 StandoutNobel
Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics
2015
Copper Active Sites in Biology
2014 Standout
The 2021 WHO Classification of Tumors of the Central Nervous System: a summary
2021 Standout
Inactivation of the PBRM1 tumor suppressor gene amplifies the HIF-response in VHL −/− clear cell renal carcinoma
2017 StandoutNobel
Molecular Pathways: SWI/SNF (BAF) Complexes Are Frequently Mutated in Cancer—Mechanisms and Potential Therapeutic Insights
2013
Medulloblastoma genomics in the modern molecular era
2019
Combination therapy in combating cancer
2017 Standout
Single Cell RNA Sequencing Identifies a Unique Inflammatory Macrophage Subset as a Druggable Target for Alleviating Acute Kidney Injury
2022
Claudins and the Modulation of Tight Junction Permeability
2013 Standout
Double-Stranded RNA Sensors and Modulators in Innate Immunity
2019
UV Radiation and the Skin
2013 Standout
Genes and mutations causing retinitis pigmentosa
2013 Standout
Works of James O’Sullivan being referenced
Kidney Single-Cell Atlas Reveals Myeloid Heterogeneity in Progression and Regression of Kidney Disease
2020
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma
2015
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
2012
Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus
2011
Non lethal Raine syndrome and differential diagnosis
2016
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas
2013
Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa
2009
The Transcription Factor Onecut-2 Controls the Microphthalmia-Associated Transcription Factor Gene
2001
Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome
2011
Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth
2011
Unusual cutaneous features associated with a heterozygous gain-of-function mutation inIFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes
2015
Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations
2014