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D. Savage · SciRah

Researcher profile · Semantic Scholar

D. Savage

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D. Savage — researcher profile on SciRah

h-index: 62
Works: 147
Citations: 16K

Most-cited papers

The UK10K project identifies rare variants in health and disease
Klaudia Walter, Josine L. Min, Jie Huang, L. Crooks +238 more
2015Nature1,070 citations Open access
Semantic Scholar
Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance
L. Lotta, P. Gulati, F. Day, F. Payne +26 more
2016Nature Genetics545 citations Open access
Semantic Scholar
GDF15 Provides an Endocrine Signal of Nutritional Stress in Mice and Humans
Satish Patel, Anna Alvarez-Guaita, A. Melvin, D. Rimmington +32 more
2019Cell Metabolism429 citations Open access
Semantic Scholar
Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis
L. Lotta, R. Scott, S. Sharp, S. Burgess +24 more
2016PLoS Medicine398 citations Open access
Semantic Scholar
Seipin is required for converting nascent to mature lipid droplets
Hua-Jin Wang, Michel Becuwe, B. Housden, Chandramohan Chitraju +17 more
2016eLife358 citations Open access
Semantic Scholar
Association between LDL-cholesterol lowering genetic variants and risk of type 2 diabetes
L. Lotta, S. Sharp, S. Burgess, J. Perry +37 more
2016Journal of the American Medical Association (JAMA)350 citations Open access
Semantic Scholar
Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy
S. Gandotra, Caroline Le Dour, W. Bottomley, P. Cervera +14 more
2011New England Journal of Medicine290 citations Open access
Semantic Scholar
Prospective functional classification of all possible missense variants in PPARG
Amit R. Majithia, Ben Tsuda, M. Agostini, K. Gnanapradeepan +19 more
2016Nature Genetics217 citations Open access
Semantic Scholar
Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors
L. Lotta, L. Wittemans, V. Zuber, I. Stewart +15 more
2018Journal of the American Medical Association (JAMA)199 citations Open access
Semantic Scholar
Genetic syndromes of severe insulin resistance.
R. Semple, D. Savage, E. Cochran, P. Gorden +1 more
2011Endocrine reviews179 citations Open access
Semantic Scholar
An Activating Mutation of AKT2 and Human Hypoglycemia
K. Hussain, B. Challis, N. Rocha, F. Payne +12 more
2011Science176 citations Open access
Semantic Scholar
Genetic syndromes of severe insulin resistance.
A. Melvin, S. O'Rahilly, D. Savage
2018Current Opinion in Genetics and Development174 citations Open access
Semantic Scholar
Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independently of obesity
R. Scott, T. Fall, D. Pasko, Adam Barker +49 more
2014Diabetes173 citations Open access
Semantic Scholar
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy
M. Weedon, S. Ellard, Marc J. Prindle, R. Caswell +18 more
2013Nature Genetics173 citations Open access
Semantic Scholar
Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis
K. Nead, S. Sharp, D. Thompson, J. Painter +17 more
2015Journal of the National Cancer Institute169 citations Open access
Semantic Scholar
Lipid droplet-organelle interactions: emerging roles in lipid metabolism.
Antonio D. Barbosa, D. Savage, S. Siniossoglou
2015Current Opinion in Cell Biology155 citations Open access
Semantic Scholar
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease
F. Payne, Koini Lim, A. Girousse, Rebecca J. Brown +15 more
2014Proceedings of the National Academy of Sciences of the United States of America146 citations Open access
Semantic Scholar
PCYT1A Regulates Phosphatidylcholine Homeostasis from the Inner Nuclear Membrane in Response to Membrane Stored Curvature Elastic Stress
Afreen Haider, Yu-Chen Wei, Koini Lim, Antonio D. Barbosa +16 more
2018Developmental Cell142 citations Open access
Semantic Scholar
What lipodystrophies teach us about the metabolic syndrome.
J. Mann, D. Savage
2019Journal of Clinical Investigation130 citations Open access
Semantic Scholar
Conserved Amphipathic Helices Mediate Lipid Droplet Targeting of Perilipins 1–3
Emily R. Rowe, M. Mimmack, Antonio D. Barbosa, Afreen Haider +7 more
2016Journal of Biological Chemistry124 citations Open access
Semantic Scholar
Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy
Rebecca J. Brown, E. Oral, E. Cochran, D. Araújo-Vilar +5 more
2018Endocrine103 citations Open access
Semantic Scholar
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
F. Payne, R. Colnaghi, N. Rocha, A. Seth +12 more
2014Journal of Clinical Investigation103 citations Open access
Semantic Scholar
Mitochondrial dysfunction in patients with primary congenital insulin resistance.
A. Sleigh, Philippa Raymond-Barker, Kerrie Thackray, David Porter +13 more
2011Journal of Clinical Investigation100 citations Open access
Semantic Scholar
Human Frame Shift Mutations Affecting the Carboxyl Terminus of Perilipin Increase Lipolysis by Failing to Sequester the Adipose Triglyceride Lipase (ATGL) Coactivator AB-hydrolase-containing 5 (ABHD5)
S. Gandotra, Koini Lim, A. Girousse, V. Saudek +2 more
2011Journal of Biological Chemistry96 citations Open access
Semantic Scholar
Insulin resistance and white adipose tissue inflammation are uncoupled in energetically challenged Fsp27-deficient mice
Lin-Kang Zhou, Shi-Young Park, Li Xu, Xia-Yu Xia +17 more
2015Nature Communications94 citations Open access
Semantic Scholar
Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy
E. Oral, P. Gorden, E. Cochran, D. Araújo-Vilar +5 more
2019Endocrine81 citations
Semantic Scholar
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
N. Rocha, David A. Bulger, A. Frontini, H. Titheradge +27 more
2017eLife80 citations Open access
Semantic Scholar
Lipodystrophy: A paradigm for understanding the consequences of "overloading" adipose tissue.
Koini Lim, Afreen Haider, C. Adams, A. Sleigh +1 more
2020Physiological Reviews74 citations
Semantic Scholar
PPARγΔ5, a Naturally Occurring Dominant-Negative Splice Isoform, Impairs PPARγ Function and Adipocyte Differentiation.
M. Aprile, Simona Cataldi, M. R. Ambrosio, V. D'Esposito +7 more
2018Cell Reports71 citations Open access
Semantic Scholar
Compartmentalized Synthesis of Triacylglycerol at the Inner Nuclear Membrane Regulates Nuclear Organization
Antonio D. Barbosa, Koini Lim, M. Mari, J. Edgar +9 more
2019Developmental Cell70 citations Open access
Semantic Scholar
Genetically-enhanced LPL mediated lipolysis, LDL cholesterol lowering alleles and risk of coronary disease and type 2 diabetes
L. Lotta, I. Stewart, S. Sharp, F. Day +15 more
2018JAMA cardiology70 citations Open access
Semantic Scholar
Clinical and Molecular Characterization of a Novel PLIN1 Frameshift Mutation Identified in Patients With Familial Partial Lipodystrophy
Kristina Kozusko, V. Tsang, W. Bottomley, Y. Cho +12 more
2014Diabetes70 citations Open access
Semantic Scholar
The genetics of lipid storage and human lipodystrophies.
Ann Robbins, D. Savage
2015Trends in Molecular Medicine67 citations Open access
Semantic Scholar
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations
I. Huang-Doran, P. Tomlinson, F. Payne, A. Gast +20 more
2016JCI Insight65 citations Open access
Semantic Scholar
Perilipins 2 and 3 lack a carboxy-terminal domain present in perilipin 1 involved in sequestering ABHD5 and suppressing basal lipolysis
Satish Patel, Wei Yang, Kristina Kozusko, V. Saudek +1 more
2014Proceedings of the National Academy of Sciences of the United States of America63 citations Open access
Semantic Scholar
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity
A. Hendricks, E. Bochukova, G. Marenne, J. Keogh +266 more
2017Scientific Reports61 citations Open access
Semantic Scholar
Dual binding motifs underpin the hierarchical association of perilipins1–3 with lipid droplets
Dalila Ajjaji, Kalthoum Ben M'barek, M. Mimmack, Cheryl England +8 more
2019Molecular Biology of the Cell58 citations Open access
Semantic Scholar
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
M. Schmidts, Yu-Qing Hou, Claudio R. Cortés, D. A. Mans +183 more
2015Nature Communications55 citations Open access
Semantic Scholar
An amino acid profile to predict diabetes?
C. Langenberg, D. Savage
2011Nature Medicine37 citations
Semantic Scholar
Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy
I. Jéru, M. Vantyghem, E. Bismuth, P. Cervera +6 more
2019Journal of Clinical Endocrinology and Metabolism35 citations Open access
Semantic Scholar
Metabolic insights from extreme human insulin resistance phenotypes.
A. Stears, S. O'Rahilly, R. Semple, D. Savage
2012Best practice & research. Clinical endocrinology & metabolism33 citations
Semantic Scholar
Investigation of clinical characteristics and genome associations in the ‘UK Lipoedema’ cohort
D. Grigoriadis, E. Sackey, K. Riches, M. van Zanten +13 more
2021medRxiv31 citations Open access
Semantic Scholar
Combined genetic deletion of GDF15 and FGF21 has modest effects on body weight, hepatic steatosis and insulin resistance in high fat fed mice
S. Patel, Afreen Haider, Anna Alvarez-Guaita, G. Bidault +12 more
2022Molecular Metabolism30 citations Open access
Semantic Scholar
“We're stuck with what we've got”: The impact of lipodystrophy on body image
C. Adams, A. Stears, D. Savage, C. Deaton
2018Journal of Clinical Nursing30 citations Open access
Semantic Scholar
Mitochondrial Oxidative Phosphorylation Is Impaired in Patients with Congenital Lipodystrophy
A. Sleigh, A. Stears, Kerrie Thackray, L. Watson +10 more
2012Journal of Clinical Endocrinology and Metabolism30 citations Open access
Semantic Scholar
Ovarian Hyperandrogenism and Response to Gonadotropin-releasing Hormone Analogues in Primary Severe Insulin Resistance
I. Huang-Doran, Alexandra B. Kinzer, M. Jimenez-Linan, Kerrie Thackray +9 more
2021Journal of Clinical Endocrinology and Metabolism29 citations Open access
Semantic Scholar
Accumulation of saturated intramyocellular lipid is associated with insulin resistance
D. Savage, L. Watson, K. Carr, C. Adams +6 more
2019Journal of Lipid Research29 citations Open access
Semantic Scholar
Mechanistic insights revealed by lipid profiling in monogenic insulin resistance syndromes
M. Eiden, A. Koulman, M. Hatunic, J. West +11 more
2015Genome Medicine29 citations Open access
Semantic Scholar
The architecture of Cidec-mediated interfaces between lipid droplets
I. Ganeva, Koini Lim, J. Boulanger, Patrick C. Hoffmann +5 more
2021bioRxiv28 citations Open access
Semantic Scholar
Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution
M. Koprulu, Ya-Jie Zhao, E. Wheeler, Liang Dong +26 more
2021Journal of Clinical Endocrinology and Metabolism27 citations Open access
Semantic Scholar

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