MC3R links nutritional state to childhood growth and the timing of puberty

A cross-platform approach identifies genetic regulators of human metabolism and health

(2021) Luca A. Lotta et al.   NATURE GENETICS

Plasma metabolites to profile pathways in noncommunicable disease multimorbidity

(2021) Maik Pietzner et al.   NATURE MEDICINE

The melanocortin-3 receptor is a pharmacological target for the regulation of anorexia

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Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort

(2021) Kaitlin H. Wade et al.   NATURE MEDICINE

Astrocyte layers in the mammalian cerebral cortex revealed by a single-cell in situ transcriptomic map

(2020) Omer Ali Bayraktar et al.   NATURE NEUROSCIENCE

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

(2020) Cristopher V. Van Hout et al.   NATURE

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

(2020) Maya Ghoussaini et al.   NUCLEIC ACIDS RESEARCH

Genetic architecture of host proteins involved in SARS-CoV-2 infection

(2020) Maik Pietzner et al.   Nature Communications

PhenoScanner V2: an expanded tool for searching human genotype–phenotype associations

(2019) Mihir A Kamat et al.   BIOINFORMATICS

Comprehensive Integration of Single-Cell Data

(2019) Tim Stuart et al.   CELL

Cohort profile: East London genes & health (ELGH), a community-based population genomics and health study of British Bangladeshi and British Pakistani people

(2019) Sarah Finer et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Differential roles of hypothalamic AVPV and arcuate kisspeptin neurons in estradiol feedback regulation of female reproduction

(2019) Luhong Wang et al.   NEUROENDOCRINOLOGY

Descriptive epidemiology of physical activity energy expenditure in UK adults (The Fenland study)

(2019) Tim Lindsay et al.   International Journal of Behavioral Nutrition and Physical Activity

Plasma protein patterns as comprehensive indicators of health

(2019) Stephen A. Williams et al.   NATURE MEDICINE

Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics

(2018) Gregory McInnes et al.   BIOINFORMATICS

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Software Application Profile: PHESANT: a tool for performing automated phenome scans in UK Biobank

(2017) Louise AC Millard et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Rare and low-frequency coding variants alter human adult height

(2017) Eirini Marouli et al.   NATURE

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

(2017) Felix R Day et al.   NATURE GENETICS

A molecular census of arcuate hypothalamus and median eminence cell types

(2017) John N Campbell et al.   NATURE NEUROSCIENCE

Single-Cell RNA-Seq Reveals Hypothalamic Cell Diversity

(2017) Renchao Chen et al.   Cell Reports

Heterogeneity of hypothalamic pro-opiomelanocortin-expressing neurons revealed by single-cell RNA sequencing

(2017) Brian Y.H. Lam et al.   Molecular Metabolism

QuPath: Open source software for digital pathology image analysis

(2017) Peter Bankhead et al.   Scientific Reports

Molecular interrogation of hypothalamic organization reveals distinct dopamine neuronal subtypes

(2016) Roman A Romanov et al.   NATURE NEUROSCIENCE

Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist

(2016) Peter Kühnen et al.   NEW ENGLAND JOURNAL OF MEDICINE

Health and population effects of rare gene knockouts in adult humans with related parents

(2016) V. M. Narasimhan et al.   SCIENCE

Defining a novel leptin–melanocortin–kisspeptin pathway involved in the metabolic control of puberty

(2016) Maria Manfredi-Lozano et al.   Molecular Metabolism

Algorithms for the Capture and Adjudication of Prevalent and Incident Diabetes in UK Biobank

(2016) Sophie V Eastwood et al.   PLoS One

Efficient Bayesian mixed-model analysis increases association power in large cohorts

(2015) Po-Ru Loh et al.   NATURE GENETICS

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

The FNIH Sarcopenia Project: Rationale, Study Description, Conference Recommendations, and Final Estimates

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Defining the role of common variation in the genomic and biological architecture of adult human height

(2014) Andrew R Wood et al.   NATURE GENETICS

Leptin and insulin pathways in POMC and AgRP neurons that modulate energy balance and glucose homeostasis

(2012) Luis Varela et al.   EMBO REPORTS

Direct Regulation of GnRH Neuron Excitability by Arcuate Nucleus POMC and NPY Neuron Neuropeptides in Female Mice

(2012) Juan Roa et al.   ENDOCRINOLOGY

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

Cohort Profile: The ‘Children of the 90s’—the index offspring of the Avon Longitudinal Study of Parents and Children

(2012) Andy Boyd et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Melanocortin-3 receptor regulates the normal fasting response

(2012) B. J. Renquist et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RNASTAR: An RNA STructural Alignment Repository that provides insight into the evolution of natural and artificial RNAs

(2012) J. Widmann et al.   RNA

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

Direct Insulin and Leptin Action on Pro-opiomelanocortin Neurons Is Required for Normal Glucose Homeostasis and Fertility

(2010) Jennifer W. Hill et al.   Cell Metabolism

Kisspeptin Cells in the Ewe Brain Respond to Leptin and Communicate with Neuropeptide Y and Proopiomelanocortin Cells

(2010) Kathryn Backholer et al.   ENDOCRINOLOGY

Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity

(2010) M. Mencarelli et al.   HUMAN MOLECULAR GENETICS

Identification of Three Novel Genetic Variants in the Melanocortin-3 Receptor of Obese Children

(2010) Doreen Zegers et al.   Obesity

Lower Metabolic Rate in Individuals Heterozygous for Either a Frameshift or a Functional Missense MC4R Variant

(2008) J. Krakoff et al.   DIABETES