Sandy Raeburn

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

Colorectal cancer statistics, 2020

Evaluation of the Preserving Efficacy of Lubricant Eye Drops with a Novel Preservative System

Colorectal cancer statistics, 2023

Human genetic disorders of sphingolipid biosynthesis

Genetics of Neurodegeneration with Brain Iron Accumulation

Fatty acid 2-Hydroxylation in mammalian sphingolipid biology

A Worldwide Assessment of the Frequency of Suicide, Suicide Attempts, or Psychiatric Hospitalization after Predictive Testing for Huntington Disease

Huntington's disease

Changes in Lipidome Composition during Brain Development in Humans, Chimpanzees, and Macaque Monkeys

Neurodegeneration with brain iron accumulation — Clinical syndromes and neuroimaging

Sphingolipids and their metabolism in physiology and disease

Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine

The Roles of PINK1, Parkin, and Mitochondrial Fidelity in Parkinson’s Disease

Global burden of colorectal cancer: emerging trends, risk factors and prevention strategies

RETURNING GENETIC RESEARCH RESULTS TO INDIVIDUALS: POINTS‐TO‐CONSIDER

Clinical practice guidelines for the perioperative nutritional, metabolic, and nonsurgical support of the bariatric surgery patient—2013 update: Cosponsored by american association of clinical endocrinologists, The obesity society, and american society for metabolic & bariatric surgery*

The genetics and neuropathology of Parkinson’s disease

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)

Public interest in genetic testing for susceptibility to heart disease and cancer: a population-based survey in the UK

Colorectal Cancer Disparity in African Americans

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

Current Concepts and Controversies in Neurodegeneration with Brain Iron Accumulation

The role of iron in brain ageing and neurodegenerative disorders

Impact of Informing Overweight Individuals about the Role of Genetics in Obesity: An Online Experimental Study

Preservatives in eyedrops: The good, the bad and the ugly

The Crystal Structure of an Integral Membrane Fatty Acid α-Hydroxylase

Role of Galactosylceramide and Sulfatide in Oligodendrocytes and CNS Myelin: Formation of a Glycosynapse

The Association of Lifestyle and Dietary Factors with the Risk for Serrated Polyps of the Colorectum

Identification of novel mutations by exome sequencing in African American colorectal cancer patients

2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death

The Uneasy Ethical and Legal Underpinnings of Large-Scale Genomic Biobanks

Impact of BRAF, MLH1 on the incidence of microsatellite instability high colorectal cancer in populations based study

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

Predictive testing for Huntington disease: social characteristics and knowledge of applicants, attitudes to the test procedure and decisions made after testing

Genetic information and testing in insurance and employment: technical, social and ethical issues

Autozygosity mapping of Bardet–Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10

Implications of Genetic Testing for the Insurance Industry: The UK Example

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23