Whole Exome Sequencing of Extreme Morbid Obesity Patients: Translational Implications for Obesity and Related Disorders

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

(2014) Chandree L. Beaulieu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Replication of 6 Obesity Genes in a Meta-Analysis of Genome-Wide Association Studies from Diverse Ancestries

(2014) Li-Jun Tan et al.   PLoS One

Meta-Analysis Reveals the Association of Common Variants in the Uncoupling Protein (UCP) 1–3 Genes with Body Mass Index Variability

(2014) Letícia A. Brondani et al.   PLoS One

Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

(2013) Michael R. Knowles et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

A Forward Genetic Screen in Mice Identifies Mutants with Abnormal Cortical Patterning

(2013) Seungshin Ha et al.   CEREBRAL CORTEX

The promise of whole-exome sequencing in medical genetics

(2013) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunitBBIP1(BBS18)

(2013) Sophie Scheidecker et al.   JOURNAL OF MEDICAL GENETICS

From obesity genetics to the future of personalized obesity therapy

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

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Whole-Exome sequencing identifies novelLEPRmutations in individuals with severe early onset obesity

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Leptin resistance is a secondary consequence of the obesity in ciliopathy mutant mice

(2013) N. F. Berbari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of Function of the Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity

(2013) M. Asai et al.   SCIENCE

Clusterin and LRP2 are critical components of the hypothalamic feeding regulatory pathway

(2013) So Young Gil et al.   Nature Communications

Clinical Application of Whole-Exome Sequencing

(2013) Wendy K. M. Liew et al.   JAMA Neurology

Genetic determinants of common obesity and their value in prediction

(2012) Ruth J.F. Loos   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Uncoupling protein 2 gene polymorphisms are associated with obesity

(2012) Sukma Oktavianthi et al.   Cardiovascular Diabetology

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Global obesity: trends, risk factors and policy implications

(2012) Vasanti S. Malik et al.   Nature Reviews Endocrinology

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Mutation of megalin leads to urinary loss of selenoprotein P and selenium deficiency in serum, liver, kidneys and brain

(2010) Jazmin Chiu-Ugalde et al.   BIOCHEMICAL JOURNAL

A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa

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Ciliary dysfunction and obesity

(2009) CA Mok et al.   CLINICAL GENETICS

Can faulty antennae increase adiposity? The link between cilia proteins and obesity

(2009) Piya Sen Gupta et al.   JOURNAL OF ENDOCRINOLOGY

Role of Neuroepithelial Sonic hedgehog in Hypothalamic Patterning

(2009) N.-E. Szabo et al.   JOURNAL OF NEUROSCIENCE

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

(2009) Vincent Marion et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: Clinical features and differential diagnosis

(2008) Barbara R. Pober et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Megalin mediates the transport of leptin across the blood-CSF barrier

(2007) Marcelo O. Dietrich et al.   NEUROBIOLOGY OF AGING