Citation Impact
Citing Papers
An autosomal recessive DNASE1L3 -related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus
2016
Nucleic Acid Immunity
2016
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
2020 Standout
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
2012
The RNA Binding Protein Quaking Regulates Formation of circRNAs
2015 Standout
Investigation of associations between Piezo1 mechanoreceptor gain-of-function variants and glaucoma-related phenotypes in humans and mice
2020 StandoutNobel
Immunogenetics of systemic sclerosis: Defining heritability, functional variants and shared-autoimmunity pathways
2015
AMPK: guardian of metabolism and mitochondrial homeostasis
2017 Standout
A Facile Method for the Removal of dsRNA Contaminant from In Vitro-Transcribed mRNA
2019 StandoutNobel
TLR7 and TLR9 in SLE: when sensing self goes wrong
2012
Systemic sclerosis
2017 Standout
A functional promoter polymorphism of the δ‐globin gene is a specific marker of the Arab‐Indian haplotype
2012
Genetics of systemic sclerosis
2015
Age-related macular degeneration
2018 Standout
Mutations in NOTCH1 Cause Adams-Oliver Syndrome
2014
Sickle-cell disease
2010 Standout
Network biology concepts in complex disease comorbidities
2016
PROTAC targeted protein degraders: the past is prologue
2022 Standout
Defining roles of specific reactive oxygen species (ROS) in cell biology and physiology
2022 Standout
Dock-family exchange factors in cell migration and disease
2014
Risk factors and biomarkers of age-related macular degeneration
2016
Recognition of Endogenous Nucleic Acids by the Innate Immune System
2016
Toll-Like Receptor Signaling Pathways
2014 Standout
Identification of copy number variants in whole-genome data using Reference Coverage Profiles
2015 StandoutNobel
Metabolic regulation of mitochondrial dynamics
2016
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype
2013
Genetics of glaucoma
2017
Peptidic degron for IMiD-induced degradation of heterologous proteins
2019 StandoutNobel
DAMP-sensing receptors in sterile inflammation and inflammatory diseases
2019 Standout
Organelle interplay—peroxisome interactions in health and disease
2019
Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome
2018
DNASE1L3Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome
2013
The return of metabolism: biochemistry and physiology of the pentose phosphate pathway
2014 Standout
The STRING database in 2021: customizable protein–protein networks, and functional characterization of user-uploaded gene/measurement sets
2020 Standout
Genes and mutations causing retinitis pigmentosa
2013 Standout
Works of Mais Hashem being referenced
Exome-based case–control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy
2015
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome
2017
Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome
2011
RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism
2012
Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mapping
2009
Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism
2011
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
2012
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
2011
Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms
2011
Congenital glaucoma and CYP1B1: an old story revisited
2018