The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

(2019) Caroline F. Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prediction of premature all-cause mortality: A prospective general population cohort study comparing machine-learning and standard epidemiological approaches

(2019) Stephen F. Weng et al.   PLoS One

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

(2019) Amit V. Khera et al.   CELL

Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity

(2019) Luca A. Lotta et al.   CELL

Patients with Obesity Caused by Melanocortin-4 Receptor Mutations Can Be Treated with a Glucagon-like Peptide-1 Receptor Agonist

(2018) Eva W. Iepsen et al.   Cell Metabolism

Genetic obesity: next-generation sequencing results of 1230 patients with obesity

(2018) Lotte Kleinendorst et al.   JOURNAL OF MEDICAL GENETICS

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

(2018) Stephane E. Castel et al.   NATURE GENETICS

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency

(2018) Navneet Matharu et al.   SCIENCE

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

(2017) Valérie Turcot et al.   NATURE GENETICS

Health Effects of Overweight and Obesity in 195 Countries over 25 Years

(2017)   NEW ENGLAND JOURNAL OF MEDICINE

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Trends in adult body-mass index in 200 countries from 1975 to 2014: a pooled analysis of 1698 population-based measurement studies with 19·2 million participants

(2016)   LANCET

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

(2016) Rong Chen et al.   NATURE BIOTECHNOLOGY

Quantifying prion disease penetrance using large population control cohorts

(2016) Eric Vallabh Minikel et al.   Science Translational Medicine

The Hunger Genes: Pathways to Obesity

(2015) Agatha A. van der Klaauw et al.   CELL

Melanocortin-4 receptor signaling is not required for short-term weight loss after sleeve gastrectomy in pediatric patients

(2015) E B Jelin et al.   INTERNATIONAL JOURNAL OF OBESITY

Genetic studies of body mass index yield new insights for obesity biology

(2015) Adam E. Locke et al.   NATURE

Analyses of allele-specific gene expression in highly divergent mouse crosses identifies pervasive allelic imbalance

(2015) James J Crowley et al.   NATURE GENETICS

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

PRSice: Polygenic Risk Score software

(2014) Jack Euesden et al.   BIOINFORMATICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Weight loss after bariatric surgery in morbidly obese adolescents withMC4Rmutations

(2013) Marisa Censani et al.   Obesity

Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

(2012) Alexander G. Bick et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Melanocortin-4 Receptor Signaling Is Required for Weight Loss after Gastric Bypass Surgery

(2012) Ida J. Hatoum et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

What makes UK Biobank special?

(2012) Rory Collins   LANCET

Rescue of Melanocortin 4 Receptor (MC4R) Nonsense Mutations by Aminoglycoside-Mediated Read-Through

(2011) Harald Brumm et al.   Obesity

Deprivation and the Development of Obesity

(2010) Mai Stafford et al.   AMERICAN JOURNAL OF PREVENTIVE MEDICINE

Obesity due to Melanocortin 4 Receptor (MC4R) Deficiency Is Associated with Increased Linear Growth and Final Height, Fasting Hyperinsulinemia, and Incompletely Suppressed Growth Hormone Secretion

(2010) Carlos E. Martinelli et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Prevalence of Melanocortin-4 Receptor Deficiency in Europeans and Their Age-Dependent Penetrance in Multigenerational Pedigrees

(2008) F. Stutzmann et al.   DIABETES

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study

(2008) M. A. Calton et al.   HUMAN MOLECULAR GENETICS

The UK Biobank sample handling and storage protocol for the collection, processing and archiving of human blood and urine

(2008) P. Elliott et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Lifestyle Intervention in Obese Children With Variations in the Melanocortin 4 Receptor Gene

(2008) Thomas Reinehr et al.   Obesity

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE