A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men

Molecular Basis of Obesity: Current Status and Future Prospects

(2012) Helene Choquet et al.   CURRENT GENOMICS

Prader-Willi Syndrome: Obesity due to Genomic Imprinting

(2012) Merlin G. Butler   CURRENT GENOMICS

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

Reliability of leptin, but not adiponectin, as a biomarker for diet-induced weight loss in humans

(2011) Monica C Klempel et al.   NUTRITION REVIEWS

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism

(2011) G. Horev et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

(2010) Feng Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) Alexandra I. F. Blakemore et al.   Annals of the New York Academy of Sciences

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Revisiting Bleuler: relationship between autism and schizophrenia

(2010) Bernard J. Crespi   BRITISH JOURNAL OF PSYCHIATRY

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome

(2010) Brooke Burns et al.   HUMAN MOLECULAR GENETICS

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

(2010) R. G. Walters et al.   NATURE

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

(2010) Elizabeth K Speliotes et al.   NATURE GENETICS

Chipping Away the ‘Missing Heritability’: GIANT Steps Forward in the Molecular Elucidation of Obesity – but Still Lots to Go

(2010) Johannes Hebebrand et al.   Obesity Facts

HDL miR-ed Down by SREBP Introns

(2010) M. S. Brown et al.   SCIENCE

MicroRNA-33 and the SREBP Host Genes Cooperate to Control Cholesterol Homeostasis

(2010) S. H. Najafi-Shoushtari et al.   SCIENCE

MiR-33 Contributes to the Regulation of Cholesterol Homeostasis

(2010) K. J. Rayner et al.   SCIENCE

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

(2010) Guénola Ricard et al.   PLOS BIOLOGY

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

Mouse models of inherited lipodystrophy

(2009) D. B. Savage   Disease Models & Mechanisms

ORIGINAL ARTICLE: Genomic sister-disorders of neurodevelopment: an evolutionary approach

(2009) Bernard Crespi et al.   Evolutionary Applications

The presence of UCP1 demonstrates that metabolically active adipose tissue in the neck of adult humans truly represents brown adipose tissue

(2009) Maria Cristina Zingaretti et al.   FASEB JOURNAL

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

Large, rare chromosomal deletions associated with severe early-onset obesity

(2009) Elena G. Bochukova et al.   NATURE

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

Genomic disorders ten years on

(2009) James R Lupski   Genome Medicine

The Metabolic Syndrome

(2008) Marc-Andre Cornier et al.   ENDOCRINE REVIEWS

How much is too much? Phenotypic consequences of Rai1 overexpression in mice

(2008) Santhosh Girirajan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Smith–Magenis syndrome

(2008) Sarah H Elsea et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome

(2008) Jessica Molina et al.   HUMAN MOLECULAR GENETICS

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Schizophrenia: Incriminating genomic evidence

(2008) James R. Lupski   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

(2008) Cristen J Willer et al.   NATURE GENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE