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Academic clinician-scientists risk becoming an endangered species

Nature medicine, 2023-12, Vol.29 (12), p.2989-2989

O'Rahilly, Stephen

2023

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Prospective functional classification of all possible missense variants in PPARG

Nature genetics, 2016-12, Vol.48 (12), p.1570-1575

2016

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TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

Nature genetics, 2009-03, Vol.41 (3), p.354-358

2009

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Mapping cis- and trans-regulatory effects across multiple tissues in twins

Nature genetics, 2012-10, Vol.44 (10), p.1084-1089

2012

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Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

Nature genetics, 2013-05, Vol.45 (5), p.513-517

2013

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Divergent effects of central melanocortin signalling on fat and sucrose preference in humans

Nature communications, 2016-10, Vol.7 (1), p.13055-13055, Article 13055

2016

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An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

Nature genetics, 2013-08, Vol.45 (8), p.947-950

2013

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Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference

Nature communications, 2018-02, Vol.9 (1), p.711-11, Article 711

2018

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

Nature medicine, 2021-06, Vol.27 (6), p.1088-1096

2021

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Obesity therapy: altering the energy intake-and-expenditure balance sheet

Nature reviews. Drug discovery, 2002-04, Vol.1 (4), p.276-286

2002

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Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Nature communications, 2019-04, Vol.10 (1), p.1718-14, Article 1718

2019

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Shedding pounds after going under the knife: guts over glory-why diets fail

Nature medicine, 2012-05, Vol.18 (5), p.666-667

2012

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Digenic inheritance of severe insulin resistance in a human pedigree

Nature genetics, 2002-08, Vol.31 (4), p.379-384

2002

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Breaking the spell of food

Nature Medicine, 2009-12, Vol.15 (12), p.1354-1354

O'Rahilly, Stephen

2009

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Timing, rates and spectra of human germline mutation

Nature genetics, 2016-02, Vol.48 (2), p.126-133

2016

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Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function

Nature genetics, 2022-01, Vol.54 (1), p.18-29

2022

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A genome-wide association meta-analysis identifies new childhood obesity loci

Nature genetics, 2012-05, Vol.44 (5), p.526-531

2012

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Differential methylation of the TRPA1 promoter in pain sensitivity

Nature communications, 2014-02, Vol.5 (1), p.2978-2978, Article 2978

2014

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Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants

Nature communications, 2015-05, Vol.6 (1), p.7211-7211, Article 7211

2015

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Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake

Nature genetics, 2023-06, Vol.55 (6), p.973-983

2023

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A frameshift mutation in MC4R associated with dominantly inherited human obesity

Nature genetics, 1998-10, Vol.20 (2), p.111-112

1998

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Academic clinician-scientists risk becoming an endangered species

Prospective functional classification of all possible missense variants in PPARG

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

Mapping cis- and trans-regulatory effects across multiple tissues in twins

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

Divergent effects of central melanocortin signalling on fat and sucrose preference in humans

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference

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

Obesity therapy: altering the energy intake-and-expenditure balance sheet

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Shedding pounds after going under the knife: guts over glory-why diets fail

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance

Digenic inheritance of severe insulin resistance in a human pedigree

Breaking the spell of food

Timing, rates and spectra of human germline mutation

Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

A genome-wide association meta-analysis identifies new childhood obesity loci

Differential methylation of the TRPA1 promoter in pain sensitivity

Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants

Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake

A frameshift mutation in MC4R associated with dominantly inherited human obesity

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