Rob Elles

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives

Hallmarks of Cancer: The Next Generation

Ribozyme-mediated reduction of wild-type and mutant cartilage oligomeric matrix protein (COMP) mRNA and protein

Structure of the calcium-rich signature domain of human thrombospondin-2

Population genetic screening programmes: principles, techniques, practices, and policies

Osteoarthritis: A disease of the joint as an organ

A secreted variant of cartilage oligomeric matrix protein carrying a chondrodysplasia‐causing mutation (p.H587R) disrupts collagen fibrillogenesis

Influences of the N700S Thrombospondin-1 Polymorphism on Protein Structure and Stability

The Thrombospondins

The role of the cartilage matrix in osteoarthritis

Lynch Syndrome Patients with Limited Family History Identified in a Laboratory Setting: A Descriptive Study

Thrombospondins: from structure to therapeutics

Molecular Mechanisms of Stress-Responsive Changes in Collagen and Elastin Networks in Skin

Provision of genetic services in Europe: current practices and issues

The Collagen Family

Mutations Targeting Intermodular Interfaces or Calcium Binding Destabilize the Thrombospondin-2 Signature Domain

Unique Matrix Structure in the Rough Endoplasmic Reticulum Cisternae of Pseudoachondroplasia Chondrocytes

Annual report to the nation on the status of cancer, 1975‐2006, featuring colorectal cancer trends and impact of interventions (risk factors, screening, and treatment) to reduce future rates

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

COMP mutations: Domain‐dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes

Genetic and orthopedic aspects of collagen disorders

The hallmarks of cancer

PCR Technologies for Point of Care Testing: Progress and Perspectives

N-Terminal Aliphatic Residues Dictate the Structure, Stability, Assembly, and Small Molecule Binding of the Coiled-Coil Region of Cartilage Oligomeric Matrix Protein

The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments

Wnt signaling and cancer

EQUAL-quant: An International External Quality Assessment Scheme for Real-Time PCR

The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history

Management of adrenal incidentalomas: European Society of Endocrinology Clinical Practice Guideline in collaboration with the European Network for the Study of Adrenal Tumors

Photothermal Nanomaterials: A Powerful Light-to-Heat Converter

Pheochromocytoma and Paraganglioma: An Endocrine Society Clinical Practice Guideline

Molecular Genetic Testing in the United States: Comparison with International Practice

A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

An overview of clinical molecular genetics

Benchmark for Evaluating the Quality of DNA Sequencing: Proposal from an International External Quality Assessment Scheme

Novel and recurrent mutations in the C-terminal domain ofCOMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epiphyseal dysplasia disease group

Molecular Diagnosis of Genetic Diseases

Molecular Diagnosis of Genetic Diseases