A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity

Aberrant methylation and loss of CADM2 tumor suppressor expression is associated with human renal cell carcinoma tumor progression

(2013) Wei He et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Congenital Proprotein Convertase 1/3 Deficiency Causes Malabsorptive Diarrhea and Other Endocrinopathies in a Pediatric Cohort

(2013) Martín G. Martín et al.   GASTROENTEROLOGY

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi–like features

(2013) Amélie Bonnefond et al.   JOURNAL OF CLINICAL INVESTIGATION

Rare variants in single-minded 1 (SIM1) are associated with severe obesity

(2013) Shwetha Ramachandrappa et al.   JOURNAL OF CLINICAL INVESTIGATION

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency

(2013) Graeme R. Frank et al.   MOLECULAR GENETICS AND METABOLISM

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

(2013) Johanna M Seddon et al.   NATURE GENETICS

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

(2013) Hannes Helgason et al.   NATURE GENETICS

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

(2013) Xiaowei Zhan et al.   NATURE GENETICS

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

(2013) Sonja I Berndt et al.   NATURE GENETICS

From obesity genetics to the future of personalized obesity therapy

(2013) Julia S. El-Sayed Moustafa et al.   Nature Reviews Endocrinology

Role of glutaminyl cyclases in thyroid carcinomas

(2012) Astrid Kehlen et al.   ENDOCRINE-RELATED CANCER

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

(2012) Michael E. Doche et al.   JOURNAL OF CLINICAL INVESTIGATION

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

(2012) Amélie Bonnefond et al.   NATURE GENETICS

Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity

(2011) J. W. M. Creemers et al.   DIABETES

Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes

(2011) R. J. Strawbridge et al.   DIABETES

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Genetic approaches to understanding human obesity

(2011) Shwetha Ramachandrappa et al.   JOURNAL OF CLINICAL INVESTIGATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Mutational Analysis of the Pro-opiomelanocortin Gene in French Obese Children Led to the Identification of a Novel Deleterious Heterozygous Mutation Located in the α-Melanocyte Stimulating Hormone Domain

(2009) Beatrice Dubern et al.   PEDIATRIC RESEARCH

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

(2008) F. Stutzmann et al.   DIABETES

Common nonsynonymous variants in PCSK1 confer risk of obesity

(2008) Michael Benzinou et al.   NATURE GENETICS

Brain-Derived Neurotrophic Factor and Obesity in the WAGR Syndrome

(2008) Joan C. Han et al.   NEW ENGLAND JOURNAL OF MEDICINE