Related references
Note: Only part of the references are listed.The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
Elliot Sollis et al.
NUCLEIC ACIDS RESEARCH (2023)
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease
Tudor Groza et al.
NUCLEIC ACIDS RESEARCH (2023)
The individual and global impact of copy-number variants on complex human traits
Chiara Auwerx et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2022)
A cross-disorder dosage sensitivity map of the human genome
Ryan L. Collins et al.
CELL (2022)
Quantifying the role of transcript levels in mediating DNA methylation effects on complex traits and diseases
Marie C. Sadler et al.
NATURE COMMUNICATIONS (2022)
Leptin increases hepatic triglyceride export via a vagal mechanism in humans
Matthaus Metz et al.
CELL METABOLISM (2022)
Spns1 is a lysophospholipid transporter mediating lysosomal phospholipid salvage
Menglan He et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2022)
Exome sequencing and analysis of 454,787 UK Biobank participants
Joshua D. Backman et al.
NATURE (2021)
Association of Race/Ethnicity and Social Disadvantage With Autism Prevalence in 7 Million School Children in England
Andres Roman-Urrestarazu et al.
JAMA PEDIATRICS (2021)
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
Urmo Vosa et al.
NATURE GENETICS (2021)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Mid-Gestation lethality ofAtxn2l-Ablated Mice
Jana Key et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Human BDNF/TrkB variants impair hippocampal synaptogenesis and associate with neurobehavioural abnormalities
Takuhiro Sonoyama et al.
SCIENTIFIC REPORTS (2020)
The GTEx Consortium atlas of genetic regulatory effects across human tissues
Francois Aguet et al.
SCIENCE (2020)
Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials
Karine Clement et al.
LANCET DIABETES & ENDOCRINOLOGY (2020)
Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits
Eleonora Porcu et al.
NATURE COMMUNICATIONS (2019)
Phenome-wide Burden of Copy-Number Variation in the UK Biobank
Matthew Aguirre et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Crucial Role of the SH2B1 PH Domain for the Control of Energy Balance
Anabel Flores et al.
DIABETES (2019)
Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank
Karen Crawford et al.
JOURNAL OF MEDICAL GENETICS (2019)
Neural deletion of Sh2b1 results in brain growth retardation and reactive aggression
Lin Jiang et al.
FASEB JOURNAL (2018)
MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency
Karine Clement et al.
NATURE MEDICINE (2018)
Changes in Serum Sphingomyelin After Roux-en-Y Gastric Bypass Surgery Are Related to Diabetes Status
Elin Rebecka Carlsson et al.
FRONTIERS IN ENDOCRINOLOGY (2018)
The UK Biobank resource with deep phenotyping and genomic data
Clare Bycroft et al.
NATURE (2018)
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
Anubha Mahajan et al.
NATURE GENETICS (2018)
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
M. N. Loviglio et al.
MOLECULAR PSYCHIATRY (2017)
Mechanisms, Pathophysiology, and Management of Obesity
Steven B. Heymsfield et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits
Aurelien Mace et al.
NATURE COMMUNICATIONS (2017)
Comparison of Sociodemographic and Health-Related Characteristics of UK Biobank Participants With Those of the General Population
Anna Fry et al.
AMERICAN JOURNAL OF EPIDEMIOLOGY (2017)
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs
Maria Nicla Loviglio et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline
Dennis M. Styne et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)
16p11.2 Deletion and Duplication: Characterizing Neurologic Phenotypes in a Large Clinically Ascertained Cohort
Kyle J. Steinman et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
New quality measure for SNP array based CNV detection
A. Mace et al.
BIOINFORMATICS (2016)
Least-Squares Means: The R Package lsmeans
Russell V. Lenth
JOURNAL OF STATISTICAL SOFTWARE (2016)
Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist
Peter Kuehnen et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
The Hunger Genes: Pathways to Obesity
Agatha A. van der Klaauw et al.
CELL (2015)
Copy Number Variations and Cognitive Phenotypes in Unselected Populations
Katrin Maennik et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2015)
Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu
Liis Leitsalu et al.
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY (2015)
Leptin Mediates the Increase in Blood Pressure Associated with Obesity
Stephanie E. Simonds et al.
CELL (2014)
Functional Characterization of Obesity-Associated Variants Involving the α and β Isoforms of Human SH2B1
Laura R. Pearce et al.
ENDOCRINOLOGY (2014)
CNVs conferring risk of autism or schizophrenia affect cognition in controls
Hreinn Stefansson et al.
NATURE (2014)
Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics
Claudia Giambartolomei et al.
PLOS GENETICS (2014)
Identification of Serum Metabolites Associated With Risk of Type 2 Diabetes Using a Targeted Metabolomic Approach
Anna Floegel et al.
DIABETES (2013)
Estimates of penetrance for recurrent pathogenic copy-number variations
Jill A. Rosenfeld et al.
GENETICS IN MEDICINE (2013)
Rare Genomic Structural Variants in Complex Disease: Lessons from the Replication of Associations with Obesity
Robin G. Walters et al.
PLOS ONE (2013)
Implication of a Rare Deletion at Distal 16p11.2 in Schizophrenia
Saurav Guha et al.
JAMA PSYCHIATRY (2013)
The SH2B1 Adaptor Protein Associates with a Proximal Region of the Erythropoietin Receptor
Mojib Javadi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Human SH2B1 mutations are associated with maladaptive behaviors and obesity
Michael E. Doche et al.
JOURNAL OF CLINICAL INVESTIGATION (2012)
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
Flore Zufferey et al.
JOURNAL OF MEDICAL GENETICS (2012)
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity
Ruxandra Bachmann-Gagescu et al.
GENETICS IN MEDICINE (2010)
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Marwan Shinawi et al.
JOURNAL OF MEDICAL GENETICS (2010)
Large, rare chromosomal deletions associated with severe early-onset obesity
Elena G. Bochukova et al.
NATURE (2010)
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
R. G. Walters et al.
NATURE (2010)
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
A multiple testing correction method for genetic association studies using correlated single nucleotide polymorphisms
Xiaoyi Gao et al.
GENETIC EPIDEMIOLOGY (2008)
Association between microdeletion and microduplication at 16p11.2 and autism
Lauren A. Weiss et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
Kai Wang et al.
GENOME RESEARCH (2007)
A second generation human haplotype map of over 3.1 million SNPs
Kelly A. Frazer et al.
NATURE (2007)
SH2B1 (SH2-B) and JAK2: a multifunctional adaptor protein and kinase made for each other
Travis J. Maures et al.
TRENDS IN ENDOCRINOLOGY AND METABOLISM (2007)
Differential role of SH2-B and APS in regulating energy and glucose homeostasis
M Li et al.
ENDOCRINOLOGY (2006)
Identification of SH2-B as a key regulator of leptin sensitivity, energy balance, and body weight in mice
DC Ren et al.
CELL METABOLISM (2005)
Disruption of the SH2-B gene causes age-dependent insulin resistance and glucose intolerance
CJ Duan et al.
MOLECULAR AND CELLULAR BIOLOGY (2004)
Recent segmental duplications in the human genome
JA Bailey et al.
SCIENCE (2002)