Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism

Rare Copy Number Variation in Treatment-Resistant Major Depressive Disorder

(2014) Colm O’Dushlaine et al.   BIOLOGICAL PSYCHIATRY

Carboxypeptidases in disease: Insights from peptidomic studies

(2014) Matthew R. Sapio et al.   Proteomics Clinical Applications

KSR2 Mutations Are Associated with Obesity, Insulin Resistance, and Impaired Cellular Fuel Oxidation

(2013) Laura R. Pearce et al.   CELL

A Homozygous Mutation in theTUBGene Associated with Retinal Dystrophy and Obesity

(2013) Arundhati Dev Borman et al.   HUMAN MUTATION

Emergence of anxiety-like behaviours in depressive-like Cpefat/fat mice

(2013) Ramona M. Rodriguiz et al.   INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY

Genetic association analysis of 30 genes related to obesity in a European American population

(2013) P Li et al.   INTERNATIONAL JOURNAL OF OBESITY

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

(2013) Christian P Schaaf et al.   NATURE GENETICS

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

(2013) M. Asai et al.   SCIENCE

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

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

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Hypothalamic proopiomelanocortin processing and the regulation of energy balance

(2011) Sharon L. Wardlaw   EUROPEAN JOURNAL OF PHARMACOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Absence of carboxypeptidase E leads to adult hippocampal neuronal degeneration and memory deficits

(2008) Alicja Woronowicz et al.   HIPPOCAMPUS

Peptidomics ofCpefat/fatmouse brain regions: implications for neuropeptide processing

(2008) Xin Zhang et al.   JOURNAL OF NEUROCHEMISTRY

Integration of embryonic and fetal skeletal myogenic programs at the myosin light chain 1f/3f locus

(2007) Peter S. Zammit et al.   DEVELOPMENTAL BIOLOGY