Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

(2016) Paul R. Kasher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recent progress in genetics, epigenetics and metagenomics unveils the pathophysiology of human obesity

(2016) M. Pigeyre et al.   CLINICAL SCIENCE

Two patients with chromosome 22q11.2 deletion presenting with childhood obesity and hyperphagia

(2016) J.K. Bassett et al.   European Journal of Medical Genetics

Obesity in adults with 22q11.2 deletion syndrome

(2016) Sarah L. Voll et al.   GENETICS IN MEDICINE

Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome

(2016) Eyal Reinstein et al.   MOLECULAR GENETICS AND METABOLISM

Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016

(2016) Hélène Huvenne et al.   Obesity Facts

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity

(2015) Elisa Biamino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Clinical and molecular delineation of a 16p13.2p13.13 microduplication

(2015) E. Tassano et al.   European Journal of Medical Genetics

Clinically relevant known and candidate genes for obesity and their overlap with human infertility and reproduction

(2015) Merlin G. Butler et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

(2015) Yi-Heng Hao et al.   MOLECULAR CELL

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Notch signaling as a novel regulator of metabolism

(2015) Pengpeng Bi et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

An integrative systems genetics approach reveals potential causal genes and pathways related to obesity

(2015) Lisette J. A. Kogelman et al.   Genome Medicine

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

(2015) Laurent Desch et al.   Molecular Cytogenetics

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity

(2014) Yukiko Kuroda et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing theHMGB1andKATNAL1genes

(2014) Deborah Bartholdi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity

(2014) Marie-Laure Vuillaume et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

(2014) Sarah Vergult et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity

(2014) Carolina Courage et al.   European Journal of Medical Genetics

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

(2014) Nina De Rocker et al.   GENETICS IN MEDICINE

Williams-Beuren Syndrome Is a Genetic Disorder Associated with Impaired Glucose Tolerance and Diabetes in Childhood and Adolescence: New Insights from a Longitudinal Study

(2014) Stefano Stagi et al.   Hormone Research in Paediatrics

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

(2014) A. C. Lionel et al.   HUMAN MOLECULAR GENETICS

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

MACROD2 gene associated with autistic-like traits in a general population sample

(2014) Rachel M. Jones et al.   PSYCHIATRIC GENETICS

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders

(2014) Stefania Gimelli et al.   Molecular Cytogenetics

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes

(2014) Carla S D’Angelo et al.   Molecular Cytogenetics

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder

(2014) Maria Bonaglia et al.   Molecular Cytogenetics

Delineation of a new chromosome 20q11.2 duplication syndrome including theASXL1gene

(2013) Magali Avila et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A cryptic microdeletion includingMBD5occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity

(2013) Minobu Shichiji et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants

(2013) Carla Sustek D'Angelo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome

(2013) Gaetano Terrone et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genome-Wide Association Study Identifies a Novel Locus Contributing to Type 2 Diabetes Susceptibility in Sikhs of Punjabi Origin From India

(2013) R. Saxena et al.   DIABETES

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

(2013) Martine Doco-Fenzy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

(2013) Fady M. Mikhail et al.   GENETICS IN MEDICINE

Recurrent deletions of ULK4 in schizophrenia: a gene crucial for neuritogenesis and neuronal motility

(2013) B. Lang et al.   JOURNAL OF CELL SCIENCE

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

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

Perilipin-2-null mice are protected against diet-induced obesity, adipose inflammation, and fatty liver disease

(2013) James L. McManaman et al.   JOURNAL OF LIPID RESEARCH

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

(2013) Nori Matsunami et al.   PLoS One

Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders

(2013) Maria Tropeano et al.   PLoS One

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

(2013) I. S. Goldlust et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations and obesity

(2012) Christina Halgren et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

(2012) Camille Leroy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Heart defects and other features of the 22q11 distal deletion syndrome

(2012) Christina R. Fagerberg et al.   European Journal of Medical Genetics

1q21.1 Microduplication expression in adults

(2012) Alessia Dolcetti et al.   GENETICS IN MEDICINE

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

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

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

Clinical Tracking of Severely Obese Children: A New Growth Chart

(2012) A. K. Gulati et al.   PEDIATRICS

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

(2011) Sarah Vergult et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome

(2011) Konrad Oexle et al.   European Journal of Medical Genetics

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

(2011) M. H. Willemsen et al.   JOURNAL OF MEDICAL GENETICS

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

(2011) Anne S. Bassett et al.   JOURNAL OF PEDIATRICS

Cytoscape Web: an interactive web-based network browser

(2010) Christian T. Lopes et al.   BIOINFORMATICS

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder

(2010) MT Carter et al.   CLINICAL GENETICS

19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression

(2010) AM Lehman et al.   CLINICAL GENETICS

Large Copy-Number Variations Are Enriched in Cases With Moderate to Extreme Obesity

(2010) K. Wang et al.   DIABETES

Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

(2010) Maria C Bonaglia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Williams–Beuren Syndrome

(2010) Barbara R. Pober   NEW ENGLAND JOURNAL OF MEDICINE

Characterizing extreme values of body mass index–for-age by using the 2000 Centers for Disease Control and Prevention growth charts

(2009) Katherine M Flegal et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenopedia and Genopedia: disease-centered and gene-centered views of the evolving knowledge of human genetic associations

(2009) W. Yu et al.   BIOINFORMATICS

dup(19)(q12q13.2): Array-based Genotype–Phenotype Correlation of a New Possibly Obesity-related Syndrome

(2009) Josef Davidsson et al.   Obesity

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

(2008) Shay Ben-Shachar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p

(2008) Xueya Hauge et al.   GENETICS IN MEDICINE