Citation Impact
Citing Papers
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
2012
The molecular basis of human retinal and vitreoretinal diseases
2010 Standout
Horizontal Gene Transfer from Diverse Bacteria to an Insect Genome Enables a Tripartite Nested Mealybug Symbiosis
2013 Standout
Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects
2020 Standout
Influences of the N700S Thrombospondin-1 Polymorphism on Protein Structure and Stability
2008
Retinitis Pigmentosa: Genes and Disease Mechanisms
2011 Standout
The Thrombospondins
2011 Standout
Discordant Phenotypes in Fraternal Twins Having an Identical Mutation in Exon ORF15 of the RPGR Gene
2008
Selection of reliable reference genes for gene expression studies in peach using real-time PCR
2009 Standout
Lynch Syndrome Patients with Limited Family History Identified in a Laboratory Setting: A Descriptive Study
2015 Standout
Cleft lip and palate: understanding genetic and environmental influences
2011 Standout
Valproic acid in pregnancy: How much are we endangering the embryo and fetus?
2009
Cell-free nucleic acids as biomarkers in cancer patients
2011 Standout
Mutations Targeting Intermodular Interfaces or Calcium Binding Destabilize the Thrombospondin-2 Signature Domain
2008
Unique Matrix Structure in the Rough Endoplasmic Reticulum Cisternae of Pseudoachondroplasia Chondrocytes
2007
COMP mutations: Domain‐dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes
2007
Unique features of long non-coding RNA biogenesis and function
2015 Standout
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay
2008
The biogenesis, biology and characterization of circular RNAs
2019 Standout
Prenatal Valproate Exposure and Risk of Autism Spectrum Disorders and Childhood Autism
2013 Standout
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
2013
Application of CRISPR/Cas9 technologies combined with iPSCs in the study and treatment of retinal degenerative diseases
2018
Prader-Willi syndrome
2012
Quality assurance practices in Europe: a survey of molecular genetic testing laboratories
2012 Nobel
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
2010
Benchmark for Evaluating the Quality of DNA Sequencing: Proposal from an International External Quality Assessment Scheme
2006
Disease-targeted sequencing: a cornerstone in the clinic
2013
Comprehensive qPCR profiling of gene expression in single neuronal cells
2011 StandoutNobel
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
2008
Importance of gene–environment interactions in the etiology of selected birth defects
2009
Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.
2008
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach
2019
Endocrine and Paracrine Regulation of Birth at Term and Preterm*
2000 Standout
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency*
2000
N-Terminal Aliphatic Residues Dictate the Structure, Stability, Assembly, and Small Molecule Binding of the Coiled-Coil Region of Cartilage Oligomeric Matrix Protein
2009
The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments
2009 Standout
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding
2009
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
Genes and mutations causing retinitis pigmentosa
2013 Standout
Pheochromocytoma and Paraganglioma: An Endocrine Society Clinical Practice Guideline
2014 Standout
Works of Simon Ramsden being referenced
Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.
2006
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
2010
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
2012
Quality control in molecular genetic testing
2001 Nobel
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia
2005
Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin
2012
RPGRmutation analysis and disease: an update
2006
Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa
2017
Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero
2007
Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis
1999
EQUAL-quant: An International External Quality Assessment Scheme for Real-Time PCR
2006